{ "url": "https://dantelabs.com/pl/genes/rigi", "gene": { "slug": "rigi", "symbol": "RIGI", "name": "RNA sensor RIG-I", "hgnc": "HGNC:19102", "summary": null, "location": "9p21.1", "locusType": "gene with protein product", "aliases": [ "RIG-I", "FLJ13599", "DKFZp434J1111", "RIG-1", "RIG1" ], "previousSymbols": [ "DDX58" ], "ensemblId": "ENSG00000107201", "entrezId": 23586, "omim": [ "609631" ], "uniprot": [ "O95786" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 32455302, "end": 32526196, "strand": "-", "ensemblTranscript": "ENST00000379883.3", "refseqTranscript": "NM_014314.4", "ensemblProtein": "ENSP00000369213.2", "refseqProtein": "NP_055129.2", "exons": [ { "start": 32455302, "end": 32457418 }, { "start": 32459371, "end": 32459514 }, { "start": 32466290, "end": 32466441 }, { "start": 32467762, "end": 32467932 }, { "start": 32472975, "end": 32473065 }, { "start": 32476983, "end": 32477131 }, { "start": 32480219, "end": 32480354 }, { "start": 32481340, "end": 32481497 }, { "start": 32485175, "end": 32485279 }, { "start": 32487471, "end": 32487633 }, { "start": 32487945, "end": 32488203 }, { "start": 32488734, "end": 32488887 }, { "start": 32489344, "end": 32489451 }, { "start": 32491301, "end": 32491420 }, { "start": 32492391, "end": 32492538 }, { "start": 32493761, "end": 32493942 }, { "start": 32500805, "end": 32500939 }, { "start": 32526061, "end": 32526196 } ], "cds": { "start": 32457122, "end": 32526166 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "9", "start": 32455300, "end": 32526322, "strand": "-" }, "neighbourhood": { "release": "116", "start": 31990749, "end": 32990748, "genes": [ { "symbol": "ACO1", "ensemblId": "ENSG00000122729", "biotype": "protein_coding", "start": 32384592, "end": 32485290, "strand": "+", "slug": "aco1" }, { "symbol": "", "ensemblId": "ENSG00000288684", "biotype": "protein_coding", "start": 32455323, "end": 32552603, "strand": "-" }, { "symbol": "TOPORS", "ensemblId": "ENSG00000197579", "biotype": "protein_coding", "start": 32540544, "end": 32552611, "strand": "-", "slug": "topors" }, { "symbol": "TZMP1", "ensemblId": "ENSG00000235453", "biotype": "protein_coding", "start": 32551144, "end": 32568621, "strand": "+", "slug": "tzmp1" }, { "symbol": "NDUFB6", "ensemblId": "ENSG00000165264", "biotype": "protein_coding", "start": 32552903, "end": 32573189, "strand": "-", "slug": "ndufb6" }, { "symbol": "TAF1L", "ensemblId": "ENSG00000122728", "biotype": "protein_coding", "start": 32629454, "end": 32635669, "strand": "-", "slug": "taf1l" }, { "symbol": "TMEM215", "ensemblId": "ENSG00000188133", "biotype": "protein_coding", "start": 32783535, "end": 32789201, "strand": "+", "slug": "tmem215" }, { "symbol": "APTX", "ensemblId": "ENSG00000137074", "biotype": "protein_coding", "start": 32886601, "end": 33025176, "strand": "-", "slug": "aptx" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Osteogenesis Imperfecta", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Osteogenesis Imperfecta", "genes": 34, "inheritance": null, "description": "Grupa dziedzicznych zaburzeń tkanki łącznej powodujących kruche kości, które łatwo ulegają złamaniu, często z niebieskawymi twardówkami, utratą słuchu i problemami stomatologicznymi.", "management": "Cykliczne dożylne bisfosfoniany (pamidronian, zoledronian); wprowadzanie prętów domszpikowych do długich kości; fizjoterapia; denosumab (stosowany klinicznie w OI u dzieci); romosozumab (w fazie badań); monitorowanie słuchu; opieka stomatologiczna w przypadku dentinogenesis imperfecta", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/osteogenesis-imperfecta" }, { "slug": "rare-monogenic-autoinflammatory-diseases", "name": "Rzadkie jednogenowe choroby autozapalne", "diseases": [ { "mondoId": "MONDO:0957018", "name": "Autozapalenie i autoimmunizacja związane z PTPN2", "genes": 22, "inheritance": "autosomal-dominant", "description": "Wczesna choroba zapalna i autoimmunologiczna, w tym zapalenie okrężnicy i zapalenie stawów, spowodowana wariantami w genie PTPN2.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/rare-monogenic-autoinflammatory-diseases" }, { "slug": "type-1-interferonopathies", "name": "Interferonopatie typu I", "diseases": [ { "mondoId": "MONDO:0014575", "name": "Zespół Singletona-Mertena 2", "genes": 1, "inheritance": "autosomal-dominant", "description": "Łagodniejsza postać zespołu Singletona-Mertena spowodowana wariantami DDX58 (RIG-I).", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/type-1-interferonopathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "aortic-valve-calcification", "name": "Aortic valve calcification", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aortic-valve-calcification" }, { "slug": "osteolytic-defects-of-the-phalanges-of-the-hand", "name": "Breakdown of small bones of fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteolytic-defects-of-the-phalanges-of-the-hand" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "joint-subluxation", "name": "Joint subluxation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-subluxation" }, { "slug": "aortic-valve-stenosis", "name": "Narrowing of aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-valve-stenosis" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "psoriasiform-lesion", "name": "Psoriasiform lesion", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/psoriasiform-lesion" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" } ], "related": [ { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 2, "url": "https://dantelabs.com/pl/genes/ifih1" }, { "slug": "acp5", "symbol": "ACP5", "name": "acid phosphatase 5, tartrate resistant", "shared": 1, "url": "https://dantelabs.com/pl/genes/acp5" }, { "slug": "ada2", "symbol": "ADA2", "name": "adenosine deaminase 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/ada2" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/pl/genes/adar" }, { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/pl/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp6v0a2" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/bmp1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/pl/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/pl/genes/col1a2" }, { "slug": "copa", "symbol": "COPA", "name": "coat protein complex I subunit alpha", "shared": 1, "url": "https://dantelabs.com/pl/genes/copa" }, { "slug": "creb3l1", "symbol": "CREB3L1", "name": "cAMP responsive element binding protein 3 like 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/creb3l1" }, { "slug": "crtap", "symbol": "CRTAP", "name": "cartilage associated protein", "shared": 1, "url": "https://dantelabs.com/pl/genes/crtap" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }