{ "url": "https://dantelabs.com/hu/genes/isg15", "gene": { "slug": "isg15", "symbol": "ISG15", "name": "ISG15 ubiquitin like modifier", "hgnc": "HGNC:4053", "summary": null, "location": "1p36.33", "locusType": "gene with protein product", "aliases": [ "IFI15", "UCRP" ], "previousSymbols": [ "G1P2" ], "ensemblId": "ENSG00000187608", "entrezId": 9636, "omim": [ "147571" ], "uniprot": [ "P05161" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 1013497, "end": 1014540, "strand": "+", "ensemblTranscript": "ENST00000649529.1", "refseqTranscript": "NM_005101.4", "ensemblProtein": "ENSP00000496832.1", "refseqProtein": "NP_005092.1", "exons": [ { "start": 1013497, "end": 1013576 }, { "start": 1013984, "end": 1014540 } ], "cds": { "start": 1013574, "end": 1014478 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 948803, "end": 949920, "strand": "+" }, "neighbourhood": { "release": "116", "start": 514019, "end": 1514018, "genes": [ { "symbol": "OR4F16", "ensemblId": "ENSG00000284662", "biotype": "protein_coding", "start": 685716, "end": 686654, "strand": "-", "slug": "or4f16" }, { "symbol": "SAMD11", "ensemblId": "ENSG00000187634", "biotype": "protein_coding", "start": 923895, "end": 944590, "strand": "+", "slug": "samd11" }, { "symbol": "NOC2L", "ensemblId": "ENSG00000188976", "biotype": "protein_coding", "start": 943527, "end": 960714, "strand": "-", "slug": "noc2l" }, { "symbol": "KLHL17", "ensemblId": "ENSG00000187961", "biotype": "protein_coding", "start": 960555, "end": 965721, "strand": "+", "slug": "klhl17" }, { "symbol": "PLEKHN1", "ensemblId": "ENSG00000187583", "biotype": "protein_coding", "start": 966437, "end": 975865, "strand": "+", "slug": "plekhn1" }, { "symbol": "PERM1", "ensemblId": "ENSG00000187642", "biotype": "protein_coding", "start": 975194, "end": 982137, "strand": "-", "slug": "perm1" }, { "symbol": "HES4", "ensemblId": "ENSG00000188290", "biotype": "protein_coding", "start": 998962, "end": 1000825, "strand": "-", "slug": "hes4" }, { "symbol": "AGRN", "ensemblId": "ENSG00000188157", "biotype": "protein_coding", "start": 1020069, "end": 1056119, "strand": "+", "slug": "agrn" }, { "symbol": "RNF223", "ensemblId": "ENSG00000237330", "biotype": "protein_coding", "start": 1070967, "end": 1074306, "strand": "-", "slug": "rnf223" }, { "symbol": "C1orf159", "ensemblId": "ENSG00000131591", "biotype": "protein_coding", "start": 1081811, "end": 1116361, "strand": "-", "slug": "c1orf159" }, { "symbol": "TTLL10", "ensemblId": "ENSG00000162571", "biotype": "protein_coding", "start": 1173880, "end": 1197940, "strand": "+", "slug": "ttll10" }, { "symbol": "TNFRSF18", "ensemblId": "ENSG00000186891", "biotype": "protein_coding", "start": 1203508, "end": 1206814, "strand": "-", "slug": "tnfrsf18" }, { "symbol": "TNFRSF4", "ensemblId": "ENSG00000186827", "biotype": "protein_coding", "start": 1211326, "end": 1214153, "strand": "-", "slug": "tnfrsf4" }, { "symbol": "SDF4", "ensemblId": "ENSG00000078808", "biotype": "protein_coding", "start": 1216887, "end": 1240964, "strand": "-", "slug": "sdf4" }, { "symbol": "B3GALT6", "ensemblId": "ENSG00000176022", "biotype": "protein_coding", "start": 1232237, "end": 1235041, "strand": "+", "slug": "b3galt6" }, { "symbol": "C1QTNF12", "ensemblId": "ENSG00000184163", "biotype": "protein_coding", "start": 1242446, "end": 1246934, "strand": "-", "slug": "c1qtnf12" }, { "symbol": "UBE2J2", "ensemblId": "ENSG00000160087", "biotype": "protein_coding", "start": 1253907, "end": 1274477, "strand": "-", "slug": "ube2j2" }, { "symbol": "SCNN1D", "ensemblId": "ENSG00000162572", "biotype": "protein_coding", "start": 1280436, "end": 1292029, "strand": "+", "slug": "scnn1d" }, { "symbol": "ACAP3", "ensemblId": "ENSG00000131584", "biotype": "protein_coding", "start": 1292376, "end": 1309609, "strand": "-", "slug": "acap3" }, { "symbol": "PUSL1", "ensemblId": "ENSG00000169972", "biotype": "protein_coding", "start": 1308547, "end": 1311679, "strand": "+", "slug": "pusl1" }, { "symbol": "INTS11", "ensemblId": "ENSG00000127054", "biotype": "protein_coding", "start": 1311585, "end": 1324688, "strand": "-", "slug": "ints11" }, { "symbol": "CPTP", "ensemblId": "ENSG00000224051", "biotype": "protein_coding", "start": 1324756, "end": 1328897, "strand": "+", "slug": "cptp" }, { "symbol": "TAS1R3", "ensemblId": "ENSG00000169962", "biotype": "protein_coding", "start": 1331275, "end": 1335314, "strand": "+", "slug": "tas1r3" }, { "symbol": "DVL1", "ensemblId": "ENSG00000107404", "biotype": "protein_coding", "start": 1335275, "end": 1349962, "strand": "-", "slug": "dvl1" }, { "symbol": "MXRA8", "ensemblId": "ENSG00000162576", "biotype": "protein_coding", "start": 1352683, "end": 1361800, "strand": "-", "slug": "mxra8" }, { "symbol": "AURKAIP1", "ensemblId": "ENSG00000175756", "biotype": "protein_coding", "start": 1373710, "end": 1375521, "strand": "-", "slug": "aurkaip1" }, { "symbol": "CCNL2", "ensemblId": "ENSG00000221978", "biotype": "protein_coding", "start": 1385709, "end": 1400909, "strand": "-", "slug": "ccnl2" }, { "symbol": "MRPL20", "ensemblId": "ENSG00000242485", "biotype": "protein_coding", "start": 1401907, "end": 1407306, "strand": "-", "slug": "mrpl20" }, { "symbol": "ANKRD65", "ensemblId": "ENSG00000235098", "biotype": "protein_coding", "start": 1415637, "end": 1421769, "strand": "-", "slug": "ankrd65" }, { "symbol": "TMEM278", "ensemblId": "ENSG00000205116", "biotype": "protein_coding", "start": 1425871, "end": 1430255, "strand": "+", "slug": "tmem278" }, { "symbol": "VWA1", "ensemblId": "ENSG00000179403", "biotype": "protein_coding", "start": 1434861, "end": 1446012, "strand": "+", "slug": "vwa1" }, { "symbol": "ATAD3C", "ensemblId": "ENSG00000215915", "biotype": "protein_coding", "start": 1449689, "end": 1470163, "strand": "+", "slug": "atad3c" }, { "symbol": "ATAD3B", "ensemblId": "ENSG00000160072", "biotype": "protein_coding", "start": 1471742, "end": 1497848, "strand": "+", "slug": "atad3b" }, { "symbol": "ATAD3A", "ensemblId": "ENSG00000197785", "biotype": "protein_coding", "start": 1512118, "end": 1534689, "strand": "+", "slug": "atad3a" } ], "truncated": false }, "reports": [ { "slug": "mendelian-susceptibility-to-mycobacterial-disease", "name": "Mendelian Susceptibility to Mycobacterial Disease (MSMD)", "diseases": [ { "mondoId": "MONDO:0019146", "name": "Mendelian susceptibility to mycobacterial disease", "genes": 8, "inheritance": null, "description": "Inherited defects in the IL-12/interferon-gamma pathway, caused by genes such as IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 and RORC.", "management": "Affected people and at-risk relatives should avoid BCG and other live vaccines, infections need prolonged treatment, and some forms respond to interferon-gamma.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/mendelian-susceptibility-to-mycobacterial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "axillary-lymphadenopathy", "name": "Axillary lymphadenopathy", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/axillary-lymphadenopathy" }, { "slug": "basal-ganglia-calcification", "name": "Basal ganglia calcification", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/basal-ganglia-calcification" }, { "slug": "bcgitis", "name": "BCGitis", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bcgitis" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "inguinal-lymphadenopathy", "name": "Inguinal lymphadenopathy", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inguinal-lymphadenopathy" }, { "slug": "recurrent-mycobacterial-infections", "name": "Recurrent mycobacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" } ], "related": [ { "slug": "ifngr1", "symbol": "IFNGR1", "name": "interferon gamma receptor 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/ifngr1" }, { "slug": "il12b", "symbol": "IL12B", "name": "interleukin 12B", "shared": 1, "url": "https://dantelabs.com/hu/genes/il12b" }, { "slug": "il12rb1", "symbol": "IL12RB1", "name": "interleukin 12 receptor subunit beta 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/il12rb1" }, { "slug": "il23r", "symbol": "IL23R", "name": "interleukin 23 receptor", "shared": 1, "url": "https://dantelabs.com/hu/genes/il23r" }, { "slug": "irf8", "symbol": "IRF8", "name": "interferon regulatory factor 8", "shared": 1, "url": "https://dantelabs.com/hu/genes/irf8" }, { "slug": "rorc", "symbol": "RORC", "name": "RAR related orphan receptor C", "shared": 1, "url": "https://dantelabs.com/hu/genes/rorc" }, { "slug": "stat1", "symbol": "STAT1", "name": "signal transducer and activator of transcription 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/stat1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }