{ "url": "https://dantelabs.com/et/genes/cyp3a5", "gene": { "slug": "cyp3a5", "symbol": "CYP3A5", "name": "cytochrome P450 family 3 subfamily A member 5", "hgnc": "HGNC:2638", "summary": null, "location": "7q22.1", "locusType": "gene with protein product", "aliases": [ "PCN3", "P450PCN3", "CP35" ], "previousSymbols": [], "ensemblId": "ENSG00000106258", "entrezId": 1577, "omim": [ "605325" ], "uniprot": [ "P20815" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 99648194, "end": 99679996, "strand": "-", "ensemblTranscript": "ENST00000222982.8", "refseqTranscript": "NM_000777.5", "ensemblProtein": "ENSP00000222982.4", "refseqProtein": "NP_000768.1", "exons": [ { "start": 99648194, "end": 99648400 }, { "start": 99650073, "end": 99650232 }, { "start": 99652553, "end": 99652779 }, { "start": 99660499, "end": 99660659 }, { "start": 99662816, "end": 99662882 }, { "start": 99663968, "end": 99664095 }, { "start": 99665166, "end": 99665314 }, { "start": 99666601, "end": 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"ATP5MF", "ensemblId": "ENSG00000241468", "biotype": "protein_coding", "start": 99448475, "end": 99466201, "strand": "-", "slug": "atp5mf" }, { "symbol": "ZNF789", "ensemblId": "ENSG00000198556", "biotype": "protein_coding", "start": 99472794, "end": 99503650, "strand": "+", "slug": "znf789" }, { "symbol": "ZNF394", "ensemblId": "ENSG00000160908", "biotype": "protein_coding", "start": 99473877, "end": 99504918, "strand": "-", "slug": "znf394" }, { "symbol": "ZKSCAN5", "ensemblId": "ENSG00000196652", "biotype": "protein_coding", "start": 99504634, "end": 99535360, "strand": "+", "slug": "zkscan5" }, { "symbol": "ZBED8L", "ensemblId": "ENSG00000221909", "biotype": "protein_coding", "start": 99546204, "end": 99559392, "strand": "-", "slug": "zbed8l" }, { "symbol": "ZNF655", "ensemblId": "ENSG00000197343", "biotype": "protein_coding", "start": 99558389, "end": 99578948, "strand": "+", "slug": "znf655" }, { "symbol": "", "ensemblId": "ENSG00000272647", "biotype": "protein_coding", "start": 99558695, "end": 99607810, "strand": "+" }, { "symbol": "TMEM225B", "ensemblId": "ENSG00000244219", "biotype": "protein_coding", "start": 99597868, "end": 99611045, "strand": "+", "slug": "tmem225b" }, { "symbol": "ZSCAN25", "ensemblId": "ENSG00000197037", "biotype": "protein_coding", "start": 99616623, "end": 99738531, "strand": "+", "slug": "zscan25" }, { "symbol": "CYP3A7-CYP3A51P", "ensemblId": "ENSG00000282301", "biotype": "protein_coding", "start": 99684957, "end": 99735102, "strand": "-", "slug": "cyp3a7-cyp3a51p" }, { "symbol": "CYP3A7", "ensemblId": "ENSG00000160870", "biotype": "protein_coding", "start": 99704105, "end": 99735196, "strand": "-", "slug": "cyp3a7" }, { "symbol": "CYP3A4", "ensemblId": "ENSG00000160868", "biotype": "protein_coding", "start": 99756954, "end": 99784327, "strand": "-", "slug": "cyp3a4" }, { "symbol": "CYP3A43", "ensemblId": "ENSG00000021461", "biotype": "protein_coding", "start": 99827922, "end": 99867801, "strand": "+", "slug": "cyp3a43" }, { "symbol": "OR2AE1", "ensemblId": "ENSG00000244623", "biotype": "protein_coding", "start": 99876062, "end": 99877033, "strand": "-", "slug": "or2ae1" }, { "symbol": "TRIM4", "ensemblId": "ENSG00000146833", "biotype": "protein_coding", "start": 99876958, "end": 99919604, "strand": "-", "slug": "trim4" }, { "symbol": "GJC3", "ensemblId": "ENSG00000176402", "biotype": "protein_coding", "start": 99923266, "end": 99929620, "strand": "-", "slug": "gjc3" }, { "symbol": "AZGP1", "ensemblId": "ENSG00000160862", "biotype": "protein_coding", "start": 99966720, "end": 99976074, "strand": "-", "slug": "azgp1" }, { "symbol": "ZKSCAN1", "ensemblId": "ENSG00000106261", "biotype": "protein_coding", "start": 100015570, "end": 100047430, "strand": "+", "slug": "zkscan1" }, { "symbol": "ZSCAN21", "ensemblId": "ENSG00000166529", "biotype": "protein_coding", "start": 100049767, "end": 100081304, "strand": "+", "slug": "zscan21" }, { "symbol": "ZNF3", "ensemblId": "ENSG00000166526", "biotype": "protein_coding", "start": 100056868, "end": 100082706, "strand": "-", "slug": "znf3" }, { "symbol": "COPS6", "ensemblId": "ENSG00000168090", "biotype": "protein_coding", "start": 100088948, "end": 100095185, "strand": "+", "slug": "cops6" }, { "symbol": "MCM7", "ensemblId": "ENSG00000166508", "biotype": "protein_coding", "start": 100092233, "end": 100101940, "strand": "-", "slug": "mcm7" }, { "symbol": "AP4M1", "ensemblId": "ENSG00000221838", "biotype": "protein_coding", "start": 100100841, "end": 100110345, "strand": "+", "slug": "ap4m1" }, { "symbol": "TAF6", "ensemblId": "ENSG00000106290", "biotype": "protein_coding", "start": 100106876, "end": 100127187, "strand": "-", "slug": "taf6" }, { "symbol": "CNPY4", "ensemblId": "ENSG00000166997", "biotype": "protein_coding", "start": 100119614, "end": 100125511, "strand": "+", "slug": "cnpy4" }, { "symbol": "MBLAC1", "ensemblId": "ENSG00000214309", "biotype": "protein_coding", "start": 100126694, "end": 100128498, "strand": "+", "slug": "mblac1" }, { "symbol": "LAMTOR4", "ensemblId": "ENSG00000188186", "biotype": "protein_coding", "start": 100148888, "end": 100155945, "strand": "+", "slug": "lamtor4" }, { "symbol": "TRAPPC14", "ensemblId": "ENSG00000146826", "biotype": "protein_coding", "start": 100154420, "end": 100158737, "strand": "-", "slug": "trappc14" }, { "symbol": "GAL3ST4", "ensemblId": "ENSG00000197093", "biotype": "protein_coding", "start": 100159244, "end": 100168953, "strand": "-", "slug": "gal3st4" } ], "truncated": false }, "reports": [], "pharmacogenomics": [ { "slug": "pharmacogenomics", "title": "Takroliimuse kliirens", "summary": "CYP3A5 eliminееrib siirdamisjärgset immunosupressanti takroliimust. Enamikul inimestel on kaks mittefunktsionaalse *3 alleeli koopiat ning nad eemaldavad ravimi aeglaselt; ensüümi ekspresseerivad inimesed eemaldavad selle kiiresti ja saavutavad standardannuse korral madalamad veretasemed.", "actionable": [ "Oluline ainult siirdamisjärgse immunosupressiooni korral; takroliimuse annustamist juhib alati vere taseme jälgimine.", "Mitteekspresseerija on Euroopa päritoluga inimestel tavaline tulemus — see ei ole puudulikkus." ], "caveat": "Määrab *3, *6 ja *7. *3 on enamikus populatsioonides levinud alleel, seega on enamik Euroopa päritoluga inimesi mitteekspresseerijad; *6 ja *7 on olulised peamiselt Aafrika päritoluga populatsioonides. Harvemad alleelid ei ole hinnatud.", "alleles": [ { "name": "*3", "function": "No function", "reference": false }, { "name": "*6", "function": "No function", "reference": false }, { "name": "*7", "function": "No function", "reference": false }, { "name": "*1", "function": "Normal function", "reference": true } ], "phenotypes": [ "Normal Metabolizer", "Intermediate Metabolizer", "Poor Metabolizer", "Possible Intermediate Metabolizer", "Indeterminate" ], "drugs": [ { "name": "tacrolimus", "cpicLevel": "A", "clinpgxLevel": "1A", "guideline": { "name": "CYP3A5 and Tacrolimus", "url": "https://www.clinpgx.org/guideline/PA166251451" } }, { "name": "atorvastatin", "cpicLevel": "C", "clinpgxLevel": "3", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "cyclosporine", "cpicLevel": "C", "clinpgxLevel": "3" }, { "name": "fluvastatin", "cpicLevel": "C", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "lovastatin", "cpicLevel": "C", "clinpgxLevel": "3", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "pitavastatin", "cpicLevel": "C", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "pravastatin", "cpicLevel": "C", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "rosuvastatin", "cpicLevel": "C", "clinpgxLevel": "3", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "simvastatin", "cpicLevel": "C", "clinpgxLevel": "4", "guideline": { "name": "SLCO1B1, ABCG2, CYP2C9, and Statins", "url": "https://www.clinpgx.org/guideline/PA166264281" } }, { "name": "sirolimus", "cpicLevel": "C", "clinpgxLevel": "3" }, { "name": "midazolam", "cpicLevel": "C/D", "clinpgxLevel": "3" } ], "name": "Farmakogenomika", "url": "https://dantelabs.com/et/whole-genome-sequencing/pharmacogenomics" } ], "traits": [], "phenotypes": [ { "slug": "elevated-diastolic-blood-pressure", "name": "Elevated diastolic blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/elevated-diastolic-blood-pressure" }, { "slug": "elevated-mean-arterial-pressure", "name": "Elevated mean arterial pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/elevated-mean-arterial-pressure" }, { "slug": "elevated-systolic-blood-pressure", "name": "Elevated systolic blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/elevated-systolic-blood-pressure" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }