{ "url": "https://dantelabs.com/pl/genes/fan1", "gene": { "slug": "fan1", "symbol": "FAN1", "name": "FANCD2 and FANCI associated nuclease 1", "hgnc": "HGNC:29170", "summary": null, "location": "15q13.3", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "KIAA1018", "MTMR15" ], "ensemblId": "ENSG00000198690", "entrezId": 22909, "omim": [ "613534" ], "uniprot": [ "Q9Y2M0" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 30903915, "end": 30943108, "strand": "+", "ensemblTranscript": "ENST00000362065.9", "refseqTranscript": "NM_014967.5", "ensemblProtein": "ENSP00000354497.4", "refseqProtein": "NP_055782.3", "exons": [ { "start": 30903915, "end": 30904011 }, { "start": 30904512, "end": 30905897 }, { "start": 30908118, "end": 30908258 }, { "start": 30910614, "end": 30910815 }, { "start": 30913858, "end": 30914091 }, { "start": 30918164, "end": 30918295 }, { "start": 30920545, "end": 30920653 }, { "start": 30922235, "end": 30922354 }, { 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{ "symbol": "", "ensemblId": "ENSG00000284906", "biotype": "protein_coding", "start": 30624548, "end": 30773002, "strand": "+" }, { "symbol": "MTMR10", "ensemblId": "ENSG00000166912", "biotype": "protein_coding", "start": 30918719, "end": 30991979, "strand": "-", "slug": "mtmr10" }, { "symbol": "TRPM1", "ensemblId": "ENSG00000134160", "biotype": "protein_coding", "start": 31001065, "end": 31161160, "strand": "-", "slug": "trpm1" }, { "symbol": "KLF13", "ensemblId": "ENSG00000169926", "biotype": "protein_coding", "start": 31326687, "end": 31435665, "strand": "+", "slug": "klf13" } ], "truncated": false }, "reports": [ { "slug": "dna-repair-disease", "name": "Choroba naprawy DNA", "diseases": [ { "mondoId": "MONDO:0021190", "name": "Choroba naprawy DNA", "genes": 43, "inheritance": "autosomal-recessive", "description": "Choroba, której podłożem jest zaburzenie mechanizmów naprawy DNA.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/dna-repair-disease" }, { "slug": "hemolytic-uremic-syndrome-interstitial-nephritis", "name": "Zespół hemolityczno-mocznicowy, śródmiąższowe zapalenie nerek", "diseases": [ { "mondoId": "MONDO:0001085", "name": "Śródmiąższowe zapalenie nerek", "genes": 1, "inheritance": null, "description": "Zapalenie kanalików nerkowych oraz tkanek podtrzymujących nerkę.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0013898", "name": "Karyomegaliczne śródmiąższowe zapalenie nerek", "genes": 1, "inheritance": "autosomal-recessive", "description": "Każde śródmiąższowe zapalenie nerek, w którym przyczyną choroby jest mutacja genu FAN1.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/hemolytic-uremic-syndrome-interstitial-nephritis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "elevated-circulating-creatinine-concentration", "name": "Elevated creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration" }, { "slug": "glycosuria", "name": "Glucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glycosuria" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "increased-blood-urea-nitrogen", "name": "Increased blood urea nitrogen", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-blood-urea-nitrogen" }, { "slug": "nephronophthisis", "name": "Nephronophthisis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nephronophthisis" }, { "slug": "renal-interstitial-fibrosis", "name": "Renal interstitial fibrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-interstitial-fibrosis" }, { "slug": "renal-tubular-cyst", "name": "Renal tubular cyst", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-tubular-cyst" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "tubulointerstitial-nephritis", "name": "Tubulointerstitial nephritis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tubulointerstitial-nephritis" } ], "related": [ { "slug": "aptx", "symbol": "APTX", "name": "aprataxin", "shared": 1, "url": "https://dantelabs.com/pl/genes/aptx" }, { "slug": "brca1", "symbol": "BRCA1", "name": "BRCA1 DNA repair associated", "shared": 1, "url": "https://dantelabs.com/pl/genes/brca1" }, { "slug": "brca2", "symbol": "BRCA2", "name": "BRCA2 DNA repair associated", "shared": 1, "url": "https://dantelabs.com/pl/genes/brca2" }, { "slug": "brip1", "symbol": "BRIP1", "name": "BRCA1 interacting DNA helicase 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/brip1" }, { "slug": "coa7", "symbol": "COA7", "name": "cytochrome c oxidase assembly factor 7", "shared": 1, "url": "https://dantelabs.com/pl/genes/coa7" }, { "slug": "dclre1c", "symbol": "DCLRE1C", "name": "DNA cross-link repair 1C", "shared": 1, "url": "https://dantelabs.com/pl/genes/dclre1c" }, { "slug": "ddb2", "symbol": "DDB2", "name": "damage specific DNA binding protein 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/ddb2" }, { "slug": "ercc1", "symbol": "ERCC1", "name": "ERCC excision repair 1, endonuclease non-catalytic subunit", "shared": 1, "url": "https://dantelabs.com/pl/genes/ercc1" }, { "slug": "ercc2", "symbol": "ERCC2", "name": "ERCC excision repair 2, TFIIH core complex helicase subunit", "shared": 1, "url": "https://dantelabs.com/pl/genes/ercc2" }, { "slug": "ercc3", "symbol": "ERCC3", "name": "ERCC excision repair 3, TFIIH core complex helicase subunit", "shared": 1, "url": "https://dantelabs.com/pl/genes/ercc3" }, { "slug": "ercc4", "symbol": "ERCC4", "name": "ERCC excision repair 4, endonuclease catalytic subunit", "shared": 1, "url": "https://dantelabs.com/pl/genes/ercc4" }, { "slug": "ercc5", "symbol": "ERCC5", "name": "ERCC excision repair 5, endonuclease", "shared": 1, "url": "https://dantelabs.com/pl/genes/ercc5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }