{ "url": "https://dantelabs.com/fr/genes/fyb1", "gene": { "slug": "fyb1", "symbol": "FYB1", "name": "FYN binding protein 1", "hgnc": "HGNC:4036", "summary": null, "location": "5p13.1", "locusType": "gene with protein product", "aliases": [ "SLAP-130", "FYB-120/130", "ADAP" ], "previousSymbols": [ "FYB" ], "ensemblId": "ENSG00000082074", "entrezId": 2533, "omim": [ "602731" ], "uniprot": [ "O15117" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 39105252, "end": 39219563, "strand": "-", "ensemblTranscript": "ENST00000512982.4", "refseqTranscript": "NM_001465.6", "ensemblProtein": "ENSP00000425845.3", "refseqProtein": "NP_001456.3", "exons": [ { "start": 39105252, "end": 39107465 }, { "start": 39108231, "end": 39108262 }, { "start": 39110356, "end": 39110389 }, { "start": 39118874, "end": 39119036 }, { "start": 39119535, "end": 39119634 }, { "start": 39122336, "end": 39122402 }, { "start": 39124253, "end": 39124278 }, { "start": 39125998, "end": 39126135 }, { "start": 39127741, "end": 39127807 }, { "start": 39130590, "end": 39130612 }, { "start": 39134208, "end": 39134349 }, { "start": 39134855, "end": 39135014 }, { "start": 39137600, "end": 39137720 }, { "start": 39138657, "end": 39138691 }, { "start": 39139233, "end": 39139252 }, { "start": 39141095, "end": 39141141 }, { "start": 39153448, "end": 39153604 }, { "start": 39201826, "end": 39202987 }, { "start": 39219443, "end": 39219563 } ], "cds": { "start": 39107443, "end": 39202960 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 39105338, "end": 39274630, "strand": "-" }, "neighbourhood": { "release": "116", "start": 38662408, "end": 39662407, "genes": [ { "symbol": "OSMR", "ensemblId": "ENSG00000145623", "biotype": "protein_coding", "start": 38845826, "end": 38945596, "strand": "+", "slug": "osmr" }, { "symbol": "RICTOR", "ensemblId": "ENSG00000164327", "biotype": "protein_coding", "start": 38937920, "end": 39074544, "strand": "-", "slug": "rictor" }, { "symbol": "C9", "ensemblId": "ENSG00000113600", "biotype": "protein_coding", "start": 39283911, "end": 39371365, "strand": "-", "slug": "c9" }, { "symbol": "DAB2", "ensemblId": "ENSG00000153071", "biotype": "protein_coding", "start": 39371675, "end": 39462300, "strand": "-", "slug": "dab2" } ], "truncated": false }, "reports": [ { "slug": "inherited-thrombocytopenias", "name": "Thrombocytopénies héréditaires", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Thrombocytopénie héréditaire", "genes": 33, "inheritance": null, "description": "Groupe de maladies entraînant une numération plaquettaire basse tout au long de la vie, liées à des gènes tels que MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 et MECOM, et transmises selon des modes dominant, récessif ou lié à l’X.", "management": "Un diagnostic génétique permet d’éviter une erreur de diagnostic de thrombocytopénie immunologique, avec des traitements stéroïdiens ou une ablation de la rate inutiles, et oriente la surveillance des problèmes rénaux, auditifs ou sanguins associés.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "menorrhagia", "name": "Abnormally heavy bleeding during menstruation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/menorrhagia" }, { "slug": "gingival-bleeding", "name": "Bleeding gums", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gingival-bleeding" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "purpura", "name": "Blood spots", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/purpura" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "petechiae", "name": "Petechiae", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/petechiae" }, { "slug": "prolonged-bleeding-time", "name": "Prolonged bleeding time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-bleeding-time" }, { "slug": "decreased-mean-platelet-volume", "name": "Small platelet size", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-mean-platelet-volume" }, { "slug": "spontaneous-hematomas", "name": "Spontaneous hematomas", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spontaneous-hematomas" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/fr/genes/actb" }, { "slug": "actn1", "symbol": "ACTN1", "name": "actinin alpha 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/actn1" }, { "slug": "adamts13", "symbol": "ADAMTS13", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13", "shared": 1, "url": "https://dantelabs.com/fr/genes/adamts13" }, { "slug": "ankrd26", "symbol": "ANKRD26", "name": "ankyrin repeat domain 26", "shared": 1, "url": "https://dantelabs.com/fr/genes/ankrd26" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/fr/genes/arpc1b" }, { "slug": "cdc42", "symbol": "CDC42", "name": "cell division cycle 42", "shared": 1, "url": "https://dantelabs.com/fr/genes/cdc42" }, { "slug": "cycs", "symbol": "CYCS", "name": "cytochrome c, somatic", "shared": 1, "url": "https://dantelabs.com/fr/genes/cycs" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/diaph1" }, { "slug": "etv6", "symbol": "ETV6", "name": "ETS variant transcription factor 6", "shared": 1, "url": "https://dantelabs.com/fr/genes/etv6" }, { "slug": "fli1", "symbol": "FLI1", "name": "Fli-1 proto-oncogene, ETS transcription factor", "shared": 1, "url": "https://dantelabs.com/fr/genes/fli1" }, { "slug": "gale", "symbol": "GALE", "name": "UDP-galactose-4-epimerase", "shared": 1, "url": "https://dantelabs.com/fr/genes/gale" }, { "slug": "gata1", "symbol": "GATA1", "name": "GATA binding protein 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/gata1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }