{ "url": "https://dantelabs.com/de/genes/slco1b1", "gene": { "slug": "slco1b1", "symbol": "SLCO1B1", "name": "solute carrier organic anion transporter family member 1B1", "hgnc": "HGNC:10959", "summary": null, "location": "12p12.1", "locusType": "gene with protein product", "aliases": [ "OATP-C", "LST-1", "OATP1B1" ], "previousSymbols": [ "SLC21A6" ], "ensemblId": "ENSG00000134538", "entrezId": 10599, "omim": [ "604843" ], "uniprot": [ "Q9Y6L6" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 21131194, "end": 21239796, "strand": "+", "ensemblTranscript": "ENST00000256958.3", "refseqTranscript": "NM_006446.5", "ensemblProtein": "ENSP00000256958.2", "refseqProtein": "NP_006437.3", "exons": [ { "start": 21131194, "end": 21131236 }, { "start": 21141514, "end": 21141658 }, { "start": 21172650, "end": 21172791 }, { "start": 21174577, "end": 21174709 }, { "start": 21176776, "end": 21176897 }, { "start": 21178576, "end": 21178722 }, { "start": 21178922, "end": 21179020 }, { "start": 21196946, "end": 21197188 }, { "start": 21200508, "end": 21200672 }, { "start": 21202491, "end": 21202686 }, { "start": 21205868, "end": 21206033 }, { "start": 21217119, "end": 21217303 }, { "start": 21222300, "end": 21222364 }, { "start": 21224722, "end": 21224839 }, { "start": 21238979, "end": 21239796 } ], "cds": { "start": 21141575, "end": 21239189 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 21284136, "end": 21392180, "strand": "+" }, "neighbourhood": { "release": "116", "start": 20685495, "end": 21685494, "genes": [ { "symbol": "PDE3A", "ensemblId": "ENSG00000172572", "biotype": "protein_coding", "start": 20368322, "end": 20688583, "strand": "+", "slug": "pde3a" }, { "symbol": "SLCO1C1", "ensemblId": "ENSG00000139155", "biotype": "protein_coding", "start": 20695332, "end": 20753386, "strand": "+", "slug": "slco1c1" }, { "symbol": "SLCO1B3", "ensemblId": "ENSG00000111700", "biotype": "protein_coding", "start": 20806645, "end": 20918230, "strand": "+", "slug": "slco1b3" }, { "symbol": "SLCO1B3-SLCO1B7", "ensemblId": "ENSG00000257046", "biotype": "protein_coding", "start": 20815674, "end": 21090245, "strand": "+", "slug": "slco1b3-slco1b7" }, { "symbol": "", "ensemblId": "ENSG00000257062", "biotype": "protein_coding", "start": 21047179, "end": 21176895, "strand": "+" }, { "symbol": "SLCO1A2", "ensemblId": "ENSG00000084453", "biotype": "protein_coding", "start": 21264600, "end": 21419676, "strand": "-", "slug": "slco1a2" }, { "symbol": "IAPP", "ensemblId": "ENSG00000121351", "biotype": "protein_coding", "start": 21354959, "end": 21379980, "strand": "+", "slug": "iapp" }, { "symbol": "PYROXD1", "ensemblId": "ENSG00000121350", "biotype": "protein_coding", "start": 21437591, "end": 21471250, "strand": "+", "slug": "pyroxd1" }, { "symbol": "RECQL", "ensemblId": "ENSG00000004700", "biotype": "protein_coding", "start": 21464720, "end": 21501669, "strand": "-", "slug": "recql" }, { "symbol": "GOLT1B", "ensemblId": "ENSG00000111711", "biotype": "protein_coding", "start": 21501781, "end": 21518408, "strand": "+", "slug": "golt1b" }, { "symbol": "SPX", "ensemblId": "ENSG00000134548", "biotype": "protein_coding", "start": 21526296, "end": 21541249, "strand": "+", "slug": "spx" }, { "symbol": "GYS2", "ensemblId": "ENSG00000111713", "biotype": "protein_coding", "start": 21531545, "end": 21604951, "strand": "-", "slug": "gys2" }, { "symbol": "", "ensemblId": "ENSG00000285854", "biotype": "protein_coding", "start": 21536203, "end": 21657798, "strand": "-" }, { "symbol": "LDHB", "ensemblId": "ENSG00000111716", "biotype": "protein_coding", "start": 21635339, "end": 21757890, "strand": "-", "slug": "ldhb" } ], "truncated": false }, "reports": [], "pharmacogenomics": [ { "slug": "pharmacogenomics", "title": "Risiko einer Statin-Myopathie", "summary": "SLCO1B1 transportiert Statine in die Leber. Allele mit eingeschränkter Funktion erhöhen den Statinspiegel im Blut und damit das Risiko von Muskelnebenwirkungen – am ausgeprägtesten ist dies bei simvastatin, doch CPIC gibt auch Empfehlungen für atorvastatin, fluvastatin, lovastatin, pitavastatin, pravastatin und rosuvastatin.", "actionable": [ "Sollten Sie ein Statin einnehmen oder neu damit beginnen und Muskelschmerzen bemerken, besprechen Sie dieses Ergebnis mit der verschreibenden ärztlichen Praxis.", "Das Risiko ist bei simvastatin am größten. CPIC definiert für jedes Statin eine Höchstdosis, sodass eine niedrigere Dosis oder der Wechsel auf ein anderes Statin meist ausreicht." ], "caveat": null, "alleles": [ { "name": "*5", "function": "No function", "reference": false }, { "name": "*1", "function": "Normal function", "reference": true } ], "phenotypes": [ "Possible Decreased Function", "Decreased Function", "Increased Function", "Indeterminate", "Normal Function", "Poor Function" ], "drugs": [ { "name": "atorvastatin", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "fluvastatin", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "lovastatin", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "pitavastatin", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "pravastatin", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "rosuvastatin", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Informative PGx", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "simvastatin", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "elagolix", "cpicLevel": "B/C", "pgxTesting": "Informative PGx" }, { "name": "methotrexate", "cpicLevel": "C", "clinpgxLevel": "3" } ], "name": "Pharmakogenomik", "url": "https://dantelabs.com/de/whole-genome-sequencing/pharmacogenomics" } ], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-enzyme-concentration-or-activity", "name": "Abnormal circulating enzyme concentration or activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity" }, { "slug": "abnormal-skin-pigmentation", "name": "Abnormal skin pigmentation", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation" }, { "slug": "abnormality-of-the-skeletal-system", "name": "Abnormality of the skeletal system", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system" }, { "slug": "bilirubinuria", "name": "Bilirubinuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilirubinuria" }, { "slug": "conjugated-hyperbilirubinemia", "name": "Conjugated hyperbilirubinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia" }, { "slug": "hyperbilirubinemia", "name": "High blood bilirubin levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperbilirubinemia" }, { "slug": "intermittent-jaundice", "name": "Intermittent yellow skin", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intermittent-jaundice" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "porphyrinuria", "name": "Porphyrinuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/porphyrinuria" }, { "slug": "storage-in-hepatocytes", "name": "Storage in hepatocytes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/storage-in-hepatocytes" }, { "slug": "conjunctival-icterus", "name": "Yellowing of the whites of the eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/conjunctival-icterus" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }