{ "url": "https://dantelabs.com/fi/genes/il1rapl1", "gene": { "slug": "il1rapl1", "symbol": "IL1RAPL1", "name": "interleukin 1 receptor accessory protein like 1", "hgnc": "HGNC:5996", "summary": null, "location": "Xp21.3-p21.2", "locusType": "gene with protein product", "aliases": [ "OPHN4", "TIGIRR-2", "IL1R8", "IL1RAPL-1" ], "previousSymbols": [ "IL1RAPL", "MRX34", "MRX21", "MRX10" ], "ensemblId": "ENSG00000169306", "entrezId": 11141, "omim": [ "300206" ], "uniprot": [ "Q9NZN1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 28587446, "end": 29956718, "strand": "+", "ensemblTranscript": "ENST00000378993.6", "refseqTranscript": "NM_014271.4", "ensemblProtein": "ENSP00000368278.1", "refseqProtein": "NP_055086.1", "exons": [ { "start": 28587446, "end": 28588047 }, { "start": 28789320, "end": 28789425 }, { "start": 29282938, "end": 29283217 }, { "start": 29396258, "end": 29396444 }, { "start": 29399155, "end": 29399308 }, { "start": 29668430, "end": 29668504 }, { "start": 29917464, "end": 29917596 }, { "start": 29919949, "end": 29920094 }, { "start": 29941651, "end": 29941794 }, { "start": 29954522, "end": 29954692 }, { "start": 29955102, "end": 29956718 } ], "cds": { "start": 28789344, "end": 29955820 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 28605516, "end": 29974840, "strand": "+" }, "neighbourhood": { "release": "116", "start": 27218173, "end": 31325991, "genes": [ { "symbol": "PPP4R3C", "ensemblId": "ENSG00000224960", "biotype": "protein_coding", "start": 27460207, "end": 27463341, "strand": "-", "slug": "ppp4r3c" }, { "symbol": "DCAF8L2", "ensemblId": "ENSG00000189186", "biotype": "protein_coding", "start": 27590281, "end": 27749942, "strand": "+", "slug": "dcaf8l2" }, { "symbol": "MAGEB10", "ensemblId": "ENSG00000177689", "biotype": "protein_coding", "start": 27807990, "end": 27823014, "strand": "+", "slug": "mageb10" }, { "symbol": "DCAF8L1", "ensemblId": "ENSG00000226372", "biotype": "protein_coding", "start": 27977992, "end": 27981449, "strand": "-", "slug": "dcaf8l1" }, { "symbol": "MAGEB2", "ensemblId": "ENSG00000099399", "biotype": "protein_coding", "start": 30215552, "end": 30220089, "strand": "+", "slug": "mageb2" }, { "symbol": "MAGEB3", "ensemblId": "ENSG00000198798", "biotype": "protein_coding", "start": 30230657, "end": 30237495, "strand": "+", "slug": "mageb3" }, { "symbol": "MAGEB4", "ensemblId": "ENSG00000120289", "biotype": "protein_coding", "start": 30242000, "end": 30244187, "strand": "+", "slug": "mageb4" }, { "symbol": "MAGEB1", "ensemblId": "ENSG00000214107", "biotype": "protein_coding", "start": 30243715, "end": 30252041, "strand": "+", "slug": "mageb1" }, { "symbol": "NR0B1", "ensemblId": "ENSG00000169297", "biotype": "protein_coding", "start": 30304206, "end": 30309394, "strand": "-", "slug": "nr0b1" }, { "symbol": "TASL", "ensemblId": "ENSG00000120280", "biotype": "protein_coding", "start": 30557703, "end": 30577921, "strand": "-", "slug": "tasl" }, { "symbol": "GK", "ensemblId": "ENSG00000198814", "biotype": "protein_coding", "start": 30653336, "end": 30733182, "strand": "+", "slug": "gk" }, { "symbol": "TAB3", "ensemblId": "ENSG00000157625", "biotype": "protein_coding", "start": 30827442, "end": 30975084, "strand": "-", "slug": "tab3" }, { "symbol": "FTHL17", "ensemblId": "ENSG00000132446", "biotype": "protein_coding", "start": 31071233, "end": 31072041, "strand": "-", "slug": "fthl17" }, { "symbol": "DMD", "ensemblId": "ENSG00000198947", "biotype": "protein_coding", "start": 31097677, "end": 33339609, "strand": "-", "slug": "dmd" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsia (laaja paneeli)", "diseases": [ { "mondoId": "MONDO:0100148", "name": "X-kromosomaalisesti periytyvä monimutkainen neurokehityksellinen häiriö", "genes": 25, "inheritance": null, "description": "Monimutkainen neurokehityksellinen häiriö, joka periytyy X-kromosomaalisesti ja jonka tunnusomaisia piirteitä ovat älyllinen kehitysvammaisuus, autismi ja epilepsia.", "management": null, "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/epilepsy-report" }, { "slug": "intellectual-disability", "name": "Älyllinen kehitysvammaisuus", "diseases": [ { "mondoId": "MONDO:0001071", "name": "älyllinen kehitysvammaisuus", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/fi/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/autism" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "impulsivity", "name": "Impulsivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impulsivity" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "macroorchidism", "name": "Large testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macroorchidism" }, { "slug": "synophrys", "name": "Monobrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/synophrys" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "hypernasal-speech", "name": "Nasal speech", "systems": [ "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypernasal-speech" }, { "slug": "open-mouth", "name": "Open mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/open-mouth" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "slug": "uplifted-earlobe", "name": "Uplifted earlobe", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/uplifted-earlobe" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 2, "url": "https://dantelabs.com/fi/genes/arhgef9" }, { "slug": "clcn4", "symbol": "CLCN4", "name": "Cl-/H+ antiporter 4", "shared": 2, "url": "https://dantelabs.com/fi/genes/clcn4" }, { "slug": "cnksr2", "symbol": "CNKSR2", "name": "connector enhancer of kinase suppressor of Ras 2", "shared": 2, "url": "https://dantelabs.com/fi/genes/cnksr2" }, { "slug": "frmpd4", "symbol": "FRMPD4", "name": "FERM and PDZ domain containing 4", "shared": 2, "url": "https://dantelabs.com/fi/genes/frmpd4" }, { "slug": "ftsj1", "symbol": "FTSJ1", "name": "FtsJ RNA 2'-O-methyltransferase 1", "shared": 2, "url": "https://dantelabs.com/fi/genes/ftsj1" }, { "slug": "gria3", "symbol": "GRIA3", "name": "glutamate ionotropic receptor AMPA type subunit 3", "shared": 2, "url": "https://dantelabs.com/fi/genes/gria3" }, { "slug": "hnrnph2", "symbol": "HNRNPH2", "name": "heterogeneous nuclear ribonucleoprotein H2", "shared": 2, "url": "https://dantelabs.com/fi/genes/hnrnph2" }, { "slug": "iqsec2", "symbol": "IQSEC2", "name": "IQ motif and Sec7 domain ArfGEF 2", "shared": 2, "url": "https://dantelabs.com/fi/genes/iqsec2" }, { "slug": "kdm5c", "symbol": "KDM5C", "name": "lysine demethylase 5C", "shared": 2, "url": "https://dantelabs.com/fi/genes/kdm5c" }, { "slug": "nexmif", "symbol": "NEXMIF", "name": "neurite extension and migration factor", "shared": 2, "url": "https://dantelabs.com/fi/genes/nexmif" }, { "slug": "pak3", "symbol": "PAK3", "name": "p21 (RAC1) activated kinase 3", "shared": 2, "url": "https://dantelabs.com/fi/genes/pak3" }, { "slug": "pcdh19", "symbol": "PCDH19", "name": "protocadherin 19", "shared": 2, "url": "https://dantelabs.com/fi/genes/pcdh19" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }