{ "url": "https://dantelabs.com/et/genes/cyp2c9", "gene": { "slug": "cyp2c9", "symbol": "CYP2C9", "name": "cytochrome P450 family 2 subfamily C member 9", "hgnc": "HGNC:2623", "summary": null, "location": "10q23.33", "locusType": "gene with protein product", "aliases": [ "P450IIC9" ], "previousSymbols": [ "CYP2C10" ], "ensemblId": "ENSG00000138109", "entrezId": 1559, "omim": [ "601130" ], "uniprot": [ "P11712" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 94938658, "end": 94990091, "strand": "+", "ensemblTranscript": "ENST00000260682.8", "refseqTranscript": "NM_000771.4", "ensemblProtein": "ENSP00000260682.6", "refseqProtein": "NP_000762.2", "exons": [ { "start": 94938658, "end": 94938850 }, { "start": 94941858, "end": 94942020 }, { "start": 94942192, "end": 94942341 }, { "start": 94947779, "end": 94947939 }, { "start": 94949108, "end": 94949284 }, { "start": 94972104, "end": 94972245 }, { "start": 94981183, "end": 94981370 }, { "start": 94986033, "end": 94986174 }, { "start": 94988847, "end": 94990091 } ], "cds": { "start": 94938683, "end": 94989028 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 96698415, "end": 96749147, "strand": "+" }, "neighbourhood": { "release": "116", "start": 94464375, "end": 95464374, "genes": [ { "symbol": "TBC1D12", "ensemblId": "ENSG00000108239", "biotype": "protein_coding", "start": 94402377, "end": 94537452, "strand": "+", "slug": "tbc1d12" }, { "symbol": "HELLS", "ensemblId": "ENSG00000119969", "biotype": "protein_coding", "start": 94545329, "end": 94613905, "strand": "+", "slug": "hells" }, { "symbol": "CYP2C18", "ensemblId": "ENSG00000108242", "biotype": "protein_coding", "start": 94682860, "end": 94736241, "strand": "+", "slug": "cyp2c18" }, { "symbol": "", "ensemblId": "ENSG00000276490", "biotype": "protein_coding", "start": 94688154, "end": 94853073, "strand": "+" }, { "symbol": "CYP2C19", "ensemblId": "ENSG00000165841", "biotype": "protein_coding", "start": 94762536, "end": 94922264, "strand": "+", "slug": "cyp2c19" }, { "symbol": "CYP2C8", "ensemblId": "ENSG00000138115", "biotype": "protein_coding", "start": 95034359, "end": 95069603, "strand": "-", "slug": "cyp2c8" }, { "symbol": "ACSM6", "ensemblId": "ENSG00000173124", "biotype": "protein_coding", "start": 95194200, "end": 95228929, "strand": "+", "slug": "acsm6" }, { "symbol": "PDLIM1", "ensemblId": "ENSG00000107438", "biotype": "protein_coding", "start": 95237569, "end": 95291126, "strand": "-", "slug": "pdlim1" }, { "symbol": "SORBS1", "ensemblId": "ENSG00000095637", "biotype": "protein_coding", "start": 95311390, "end": 95561469, "strand": "-", "slug": "sorbs1" } ], "truncated": false }, "reports": [], "pharmacogenomics": [ { "slug": "pharmacogenomics", "title": "Varfariini ja MSPVA-de metabolism", "summary": "CYP2C9 eemaldab varfariini, fenütoiini ja paljusid MSPVA-sid — sealhulgas tselekoksiibi, ibuprofeeni, meloksikaami ja piroksikaami. Vähenenud funktsiooniga alleelid aeglustavad seda eemaldamist, vähendades vajalikku varfariini annust ning suurendades teiste ravimite ekspositsiooni.", "actionable": [ "Kui teile kunagi määratakse varfariin, võib genotüübil põhinev annustamine (CYP2C9 + VKORC1 + CYP4F2) lühendada aega stabiilse annuseni jõudmiseks.", "MSPVA-de, nagu tselekoksiib, ibuprofeen, flurbiprofeen, meloksikaam ja piroksikaam, puhul võivad halvad metaboliseerijad vajada madalamat annust või alternatiivi — eriti pikaajalisel kasutamisel.", "Oluline krambivastaste ravimite fenütoiini ja fosfenütoiini puhul, mille korral vähenenud aktiivsus suurendab toksilisuse riski.", "Siponimod, skleroosi ravim, nõuab enne väljakirjutamist CYP2C9 genotüpiseerimist ning seda ei kasutata inimestel, kellel on kaks *3 koopiat." ], "caveat": "Määrab *2 ja *3 ning *5, *6, *8 ja *11 alleelid, mis on Aafrika päritoluga populatsioonides kõige olulisemad. CYP2C-klastri variant rs12777823, mis selles rühmas samuti informeerib varfariini annustamist, ei ole siin hinnatud.", "alleles": [ { "name": "*3", "function": "No function", "reference": false }, { "name": "*6", "function": "No function", "reference": false }, { "name": "*5", "function": "Decreased function", "reference": false }, { "name": "*11", "function": "Decreased function", "reference": false }, { "name": "*1", "function": "Normal function", "reference": true }, { "name": "*2", "function": "Decreased function", "reference": false }, { "name": "*8", "function": "Decreased function", "reference": false } ], "phenotypes": [ "Poor Metabolizer", "Indeterminate", "Normal Metabolizer", "Intermediate Metabolizer" ], "drugs": [ { "name": "celecoxib", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Actionable PGx", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "flurbiprofen", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Actionable PGx", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "fluvastatin", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "fosphenytoin", "cpicLevel": "A", "pgxTesting": "Actionable PGx", "guideline": { "name": "CYP2C9, HLA-B and Phenytoin", "url": "https://www.clinpgx.org/guideline/PA166251461" } }, { "name": "ibuprofen", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "lornoxicam", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "meloxicam", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Informative PGx", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "phenytoin", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Actionable PGx", "guideline": { "name": "CYP2C9, HLA-B and Phenytoin", "url": "https://www.clinpgx.org/guideline/PA166251461" } }, { "name": "piroxicam", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Actionable PGx", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "siponimod", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Testing Required" }, { "name": "tenoxicam", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "warfarin", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Actionable PGx", "guideline": { "name": "CYP2C9, VKORC1, CYP4F2 and Warfarin", "url": "https://www.clinpgx.org/guideline/PA166251465" } }, { "name": "acenocoumarol", "cpicLevel": "B", "clinpgxLevel": "1B" }, { "name": "avatrombopag", "cpicLevel": "B/C", "pgxTesting": "Informative PGx" }, { "name": "dronabinol", "cpicLevel": "B/C", "pgxTesting": "Actionable PGx" }, { "name": "erdafitinib", "cpicLevel": "B/C", "pgxTesting": "Actionable PGx" }, { "name": "lesinurad", "cpicLevel": "B/C", "pgxTesting": "Actionable PGx" }, { "name": "aceclofenac", "cpicLevel": "C", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "aspirin", "cpicLevel": "C", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "diclofenac", "cpicLevel": "C", "clinpgxLevel": "3", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "flibanserin", "cpicLevel": "C", "pgxTesting": "Informative PGx" }, { "name": "indomethacin", "cpicLevel": "C", "clinpgxLevel": "3", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "lumiracoxib", "cpicLevel": "C", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "nabumetone", "cpicLevel": "C", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } }, { "name": "naproxen", "cpicLevel": "C", "clinpgxLevel": "3", "guideline": { "name": "CYP2C9 and NSAIDs", "url": "https://www.clinpgx.org/guideline/PA166251464" } } ], "name": "Farmakogenomika", "url": "https://dantelabs.com/et/whole-genome-sequencing/pharmacogenomics" } ], "traits": [], "phenotypes": [ { "slug": "abnormality-of-blood-and-blood-forming-tissues", "name": "Abnormality of blood and blood-forming tissues", "systems": [], "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }