{ "url": "https://dantelabs.com/nl/genes/capns1", "gene": { "slug": "capns1", "symbol": "CAPNS1", "name": "calpain small subunit 1", "hgnc": "HGNC:1481", "summary": null, "location": "19q13.12", "locusType": "gene with protein product", "aliases": [ "CANP", "CANPS", "30K", "CDPS" ], "previousSymbols": [ "CAPN4" ], "ensemblId": "ENSG00000126247", "entrezId": 826, "omim": [ "114170" ], "uniprot": [ "P04632" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 36140066, "end": 36150353, "strand": "+", "ensemblTranscript": "ENST00000246533.8", "refseqTranscript": "NM_001749.4", "ensemblProtein": "ENSP00000246533.2", "refseqProtein": "NP_001740.1", "exons": [ { "start": 36140066, "end": 36140157 }, { "start": 36140997, "end": 36141220 }, { "start": 36142300, "end": 36142333 }, { "start": 36142652, "end": 36142741 }, { "start": 36142909, "end": 36142966 }, { "start": 36143064, "end": 36143128 }, { "start": 36145806, "end": 36145874 }, { "start": 36145976, "end": 36146054 }, { "start": 36146196, "end": 36146312 }, { "start": 36149578, "end": 36149636 }, { "start": 36149813, "end": 36150353 } ], "cds": { "start": 36141012, "end": 36149839 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 36630477, "end": 36641255, "strand": "+" }, "neighbourhood": { "release": "116", "start": 35645210, "end": 36645209, "genes": [ { "symbol": "COX6B1", "ensemblId": "ENSG00000126267", "biotype": "protein_coding", "start": 35648230, "end": 35662890, "strand": "+", "slug": "cox6b1" }, { "symbol": "UPK1A", "ensemblId": "ENSG00000105668", "biotype": "protein_coding", "start": 35666516, "end": 35678481, "strand": "+", "slug": "upk1a" }, { "symbol": "ZBTB32", "ensemblId": "ENSG00000011590", "biotype": "protein_coding", "start": 35704558, "end": 35717048, "strand": "+", "slug": "zbtb32" }, { "symbol": "KMT2B", "ensemblId": "ENSG00000272333", "biotype": "protein_coding", "start": 35717973, "end": 35738880, "strand": "+", "slug": "kmt2b" }, { "symbol": "IGFLR1", "ensemblId": "ENSG00000126246", "biotype": "protein_coding", "start": 35738798, "end": 35742459, "strand": "-", "slug": "igflr1" }, { "symbol": "", "ensemblId": "ENSG00000267120", "biotype": "protein_coding", "start": 35739252, "end": 35745432, "strand": "-" }, { "symbol": "U2AF1L4", "ensemblId": "ENSG00000161265", "biotype": "protein_coding", "start": 35742464, "end": 35745460, "strand": "-", "slug": "u2af1l4" }, { "symbol": "PSENEN", "ensemblId": "ENSG00000205155", "biotype": "protein_coding", "start": 35745070, "end": 35747519, "strand": "+", "slug": "psenen" }, { "symbol": "", "ensemblId": "ENSG00000188223", "biotype": "protein_coding", "start": 35745678, "end": 35754519, "strand": "+" }, { "symbol": "LIN37", "ensemblId": "ENSG00000267796", "biotype": "protein_coding", "start": 35748361, "end": 35754519, "strand": "+", "slug": "lin37" }, { "symbol": "HSPB6", "ensemblId": "ENSG00000004776", "biotype": "protein_coding", "start": 35754566, "end": 35758079, "strand": "-", "slug": "hspb6" }, { "symbol": "PROSER3", "ensemblId": "ENSG00000167595", "biotype": "protein_coding", "start": 35758143, "end": 35771398, "strand": "+", "slug": "proser3" }, { "symbol": "ARHGAP33", "ensemblId": "ENSG00000004777", "biotype": "protein_coding", "start": 35774532, "end": 35788822, "strand": "+", "slug": "arhgap33" }, { "symbol": "PRODH2", "ensemblId": "ENSG00000250799", "biotype": "protein_coding", "start": 35799975, "end": 35813299, "strand": "-", "slug": "prodh2" }, { "symbol": "NPHS1", "ensemblId": "ENSG00000161270", "biotype": "protein_coding", "start": 35825372, "end": 35869287, "strand": "-", "slug": "nphs1" }, { "symbol": "KIRREL2", "ensemblId": "ENSG00000126259", "biotype": "protein_coding", "start": 35851369, "end": 35867145, "strand": "+", "slug": "kirrel2" }, { "symbol": "APLP1", "ensemblId": "ENSG00000105290", "biotype": "protein_coding", "start": 35867899, "end": 35879803, "strand": "+", "slug": "aplp1" }, { "symbol": "NFKBID", "ensemblId": "ENSG00000167604", "biotype": "protein_coding", "start": 35887129, "end": 35902303, "strand": "-", "slug": "nfkbid" }, { "symbol": "HCST", "ensemblId": "ENSG00000126264", "biotype": "protein_coding", "start": 35899017, "end": 35904377, "strand": "+", "slug": "hcst" }, { "symbol": "TYROBP", "ensemblId": "ENSG00000011600", "biotype": "protein_coding", "start": 35904398, "end": 35908318, "strand": "-", "slug": "tyrobp" }, { "symbol": "LRFN3", "ensemblId": "ENSG00000126243", "biotype": "protein_coding", "start": 35935358, "end": 35946624, "strand": "+", "slug": "lrfn3" }, { "symbol": "SDHAF1", "ensemblId": "ENSG00000205138", "biotype": "protein_coding", "start": 35995188, "end": 35996312, "strand": "+", "slug": "sdhaf1" }, { "symbol": "SYNE4", "ensemblId": "ENSG00000181392", "biotype": "protein_coding", "start": 36000545, "end": 36008831, "strand": "-", "slug": "syne4" }, { "symbol": "ALKBH6", "ensemblId": "ENSG00000239382", "biotype": "protein_coding", "start": 36009113, "end": 36014297, "strand": "-", "slug": "alkbh6" }, { "symbol": "CLIP3", "ensemblId": "ENSG00000105270", "biotype": "protein_coding", "start": 36014660, "end": 36033343, "strand": "-", "slug": "clip3" }, { "symbol": "THAP8", "ensemblId": "ENSG00000161277", "biotype": "protein_coding", "start": 36033393, "end": 36054739, "strand": "-", "slug": "thap8" }, { "symbol": "WDR62", "ensemblId": "ENSG00000075702", "biotype": "protein_coding", "start": 36054649, "end": 36105112, "strand": "+", "slug": "wdr62" }, { "symbol": "OVOL3", "ensemblId": "ENSG00000105261", "biotype": "protein_coding", "start": 36111116, "end": 36113711, "strand": "+", "slug": "ovol3" }, { "symbol": "POLR2I", "ensemblId": "ENSG00000105258", "biotype": "protein_coding", "start": 36111817, "end": 36115213, "strand": "-", "slug": "polr2i" }, { "symbol": "TBCB", "ensemblId": "ENSG00000105254", "biotype": "protein_coding", "start": 36114289, "end": 36125948, "strand": "+", "slug": "tbcb" }, { "symbol": "COX7A1", "ensemblId": "ENSG00000161281", "biotype": "protein_coding", "start": 36150287, "end": 36152699, "strand": "-", "slug": "cox7a1" }, { "symbol": "ZNF565", "ensemblId": "ENSG00000196357", "biotype": "protein_coding", "start": 36181542, "end": 36246257, "strand": "-", "slug": "znf565" }, { "symbol": "ZNF146", "ensemblId": "ENSG00000167635", "biotype": "protein_coding", "start": 36214602, "end": 36239969, "strand": "+", "slug": "znf146" }, { "symbol": "ZFP14", "ensemblId": "ENSG00000142065", "biotype": "protein_coding", "start": 36334453, "end": 36379208, "strand": "-", "slug": "zfp14" }, { "symbol": "ZFP82", "ensemblId": "ENSG00000181007", "biotype": "protein_coding", "start": 36383120, "end": 36418924, "strand": "-", "slug": "zfp82" }, { "symbol": "ZNF566", "ensemblId": "ENSG00000186017", "biotype": "protein_coding", "start": 36445119, "end": 36489902, "strand": "-", "slug": "znf566" }, { "symbol": "ZNF260", "ensemblId": "ENSG00000254004", "biotype": "protein_coding", "start": 36510687, "end": 36528696, "strand": "-", "slug": "znf260" }, { "symbol": "ZNF529", "ensemblId": "ENSG00000186020", "biotype": "protein_coding", "start": 36534774, "end": 36605554, "strand": "-", "slug": "znf529" }, { "symbol": "ZNF382", "ensemblId": "ENSG00000161298", "biotype": "protein_coding", "start": 36604817, "end": 36634114, "strand": "+", "slug": "znf382" }, { "symbol": "ZNF461", "ensemblId": "ENSG00000197808", "biotype": "protein_coding", "start": 36636618, "end": 36666853, "strand": "-", "slug": "znf461" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "alveolar-septal-thickening", "name": "Alveolar septal thickening", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/alveolar-septal-thickening" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/apnea" }, { "slug": "atrial-flutter", "name": "Atrial flutter", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-flutter" }, { "slug": "cyanosis", "name": "Blue discoloration of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cyanosis" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "elevated-circulating-nt-probnp-concentration", "name": "Elevated circulating NT-proBNP concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-nt-probnp-concentration" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "ground-glass-opacification", "name": "Ground-glass opacification", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ground-glass-opacification" }, { "slug": "hemosiderin-laden-macrophages-in-bronchoalveolar-fluid", "name": "Hemosiderin-laden macrophages in bronchoalveolar fluid", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hemosiderin-laden-macrophages-in-bronchoalveolar-fluid" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "slug": "atrioventricular-block", "name": "Interruption of electrical communication between upper and lower chambers of heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrioventricular-block" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "pulmonary-capillary-hemangiomatosis", "name": "Pulmonary capillary hemangiomatosis", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pulmonary-capillary-hemangiomatosis" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "right-ventricular-failure", "name": "Right ventricular failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/right-ventricular-failure" }, { "slug": "right-ventricular-hypertrophy", "name": "Right ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }