{ "url": "https://dantelabs.com/fi/genes/serpinf1", "gene": { "slug": "serpinf1", "symbol": "SERPINF1", "name": "serpin family F member 1", "hgnc": "HGNC:8824", "summary": null, "location": "17p13.3", "locusType": "gene with protein product", "aliases": [ "EPC-1", "PIG35" ], "previousSymbols": [ "PEDF" ], "ensemblId": "ENSG00000132386", "entrezId": 5176, "omim": [ "172860" ], "uniprot": [ "P36955" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 1762060, "end": 1777565, "strand": "+", "ensemblTranscript": "ENST00000254722.9", "refseqTranscript": "NM_002615.7", "ensemblProtein": "ENSP00000254722.4", "refseqProtein": "NP_002606.3", "exons": [ { "start": 1762060, "end": 1762113 }, { "start": 1766903, "end": 1766994 }, { "start": 1769852, "end": 1770050 }, { "start": 1771029, "end": 1771184 }, { "start": 1771872, "end": 1772075 }, { "start": 1775058, "end": 1775200 }, { "start": 1776532, "end": 1776742 }, { "start": 1777187, "end": 1777565 } ], "cds": { "start": 1766911, "end": 1777446 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 1665253, "end": 1680868, "strand": "+" }, "neighbourhood": { "release": "116", "start": 1269813, "end": 2269812, "genes": [ { "symbol": "BHLHA9", "ensemblId": "ENSG00000205899", "biotype": "protein_coding", "start": 1270444, "end": 1271815, "strand": "+", "slug": "bhlha9" }, { "symbol": "TRARG1", "ensemblId": "ENSG00000184811", "biotype": "protein_coding", "start": 1279554, "end": 1300978, "strand": "+", "slug": "trarg1" }, { "symbol": "YWHAE", "ensemblId": "ENSG00000108953", "biotype": "protein_coding", "start": 1344275, "end": 1400326, "strand": "-", "slug": "ywhae" }, { "symbol": "CRK", "ensemblId": "ENSG00000167193", "biotype": "protein_coding", "start": 1420689, "end": 1463162, "strand": "-", "slug": "crk" }, { "symbol": "MYO1C", "ensemblId": "ENSG00000197879", "biotype": "protein_coding", "start": 1464186, "end": 1492707, "strand": "-", "slug": "myo1c" }, { "symbol": "INPP5K", "ensemblId": "ENSG00000132376", "biotype": "protein_coding", "start": 1494571, "end": 1516759, "strand": "-", "slug": "inpp5k" }, { "symbol": "PITPNA", "ensemblId": "ENSG00000174238", "biotype": "protein_coding", "start": 1517718, "end": 1562861, "strand": "-", "slug": "pitpna" }, { "symbol": "SLC43A2", "ensemblId": "ENSG00000167703", "biotype": "protein_coding", "start": 1569268, "end": 1630103, "strand": "-", "slug": "slc43a2" }, { "symbol": "SCARF1", "ensemblId": "ENSG00000074660", "biotype": "protein_coding", "start": 1633848, "end": 1646122, "strand": "-", "slug": "scarf1" }, { "symbol": "RILP", "ensemblId": "ENSG00000167705", "biotype": "protein_coding", "start": 1646138, "end": 1650083, "strand": "-", "slug": "rilp" }, { "symbol": "PRPF8", "ensemblId": "ENSG00000174231", "biotype": "protein_coding", "start": 1650624, "end": 1684909, "strand": "-", "slug": "prpf8" }, { "symbol": "TLCD2", "ensemblId": "ENSG00000185561", "biotype": "protein_coding", "start": 1688598, "end": 1710639, "strand": "-", "slug": "tlcd2" }, { "symbol": "WDR81", "ensemblId": "ENSG00000167716", "biotype": "protein_coding", "start": 1716523, "end": 1738599, "strand": "+", "slug": "wdr81" }, { "symbol": "SERPINF2", "ensemblId": "ENSG00000167711", "biotype": "protein_coding", "start": 1742069, "end": 1755271, "strand": "+", "slug": "serpinf2" }, { "symbol": "SMYD4", "ensemblId": "ENSG00000186532", "biotype": "protein_coding", "start": 1779485, "end": 1830634, "strand": "-", "slug": "smyd4" }, { "symbol": "RPA1", "ensemblId": "ENSG00000132383", "biotype": "protein_coding", "start": 1829702, "end": 1900082, "strand": "+", "slug": "rpa1" }, { "symbol": "RTN4RL1", "ensemblId": "ENSG00000185924", "biotype": "protein_coding", "start": 1934677, "end": 2025355, "strand": "-", "slug": "rtn4rl1" }, { "symbol": "DPH1", "ensemblId": "ENSG00000108963", "biotype": "protein_coding", "start": 2030136, "end": 2043898, "strand": "+", "slug": "dph1" }, { "symbol": "OVCA2", "ensemblId": "ENSG00000262664", "biotype": "protein_coding", "start": 2042022, "end": 2043898, "strand": "+", "slug": "ovca2" }, { "symbol": "HIC1", "ensemblId": "ENSG00000177374", "biotype": "protein_coding", "start": 2054154, "end": 2063241, "strand": "+", "slug": "hic1" }, { "symbol": "SMG6", "ensemblId": "ENSG00000070366", "biotype": "protein_coding", "start": 2059839, "end": 2303934, "strand": "-", "slug": "smg6" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Osteogenesis Imperfecta", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Osteogenesis Imperfecta", "genes": 34, "inheritance": null, "description": "Joukko perinnöllisiä sidekudossairauksia, jotka aiheuttavat hauraita luita, jotka murtuvat helposti. Oireisiin kuuluu usein sinertävä sklera, kuulonalenema ja hammasongelmia.", "management": "Syklinen laskimonsisäinen bisfosfonaattihoito (pamidronaatti, zoledronaatti); pitkien luiden ortopedinen tukeminen tankoin; fysioterapia; denosumabi (käytössä kliinisesti lasten OI:n hoidossa); romosotsumabi (kehitteillä); kuulon seuranta; hampaiden hoito dentinogenesis imperfectan vuoksi", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/osteogenesis-imperfecta" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "protrusio-acetabuli", "name": "Abnormally indented hip sockets", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/protrusio-acetabuli" }, { "slug": "beaking-of-vertebral-bodies", "name": "Beaking of vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/beaking-of-vertebral-bodies" }, { "slug": "biconcave-vertebral-bodies", "name": "Biconcave vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/biconcave-vertebral-bodies" }, { "slug": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/blue-sclerae" }, { "slug": "bowing-of-the-legs", "name": "Bowed legs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bowing-of-the-legs" }, { "slug": "bowing-of-the-arm", "name": "Bowing of the arm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bowing-of-the-arm" }, { "slug": "vertebral-compression-fracture", "name": "Compression fracture of a vertebral body", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vertebral-compression-fracture" }, { "slug": "coxa-vara", "name": "Coxa vara", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/coxa-vara" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "elevated-circulating-deoxypyridinoline-concentration", "name": "Elevated circulating deoxypyridinoline concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-deoxypyridinoline-concentration" }, { "slug": "increased-susceptibility-to-fractures", "name": "Increased susceptibility to fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fractures" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/fi/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/fi/genes/atp6v0a2" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/bmp1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/fi/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/fi/genes/col1a2" }, { "slug": "creb3l1", "symbol": "CREB3L1", "name": "cAMP responsive element binding protein 3 like 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/creb3l1" }, { "slug": "crtap", "symbol": "CRTAP", "name": "cartilage associated protein", "shared": 1, "url": "https://dantelabs.com/fi/genes/crtap" }, { "slug": "fkbp10", "symbol": "FKBP10", "name": "FKBP prolyl isomerase 10", "shared": 1, "url": "https://dantelabs.com/fi/genes/fkbp10" }, { "slug": "gorab", "symbol": "GORAB", "name": "golgin, RAB6 interacting", "shared": 1, "url": "https://dantelabs.com/fi/genes/gorab" }, { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/ifih1" }, { "slug": "ifitm5", "symbol": "IFITM5", "name": "interferon induced transmembrane protein 5", "shared": 1, "url": "https://dantelabs.com/fi/genes/ifitm5" }, { "slug": "kdelr2", "symbol": "KDELR2", "name": "KDEL endoplasmic reticulum protein retention receptor 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/kdelr2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }