{ "url": "https://dantelabs.com/tr/genes/irf1", "gene": { "slug": "irf1", "symbol": "IRF1", "name": "interferon regulatory factor 1", "hgnc": "HGNC:6116", "summary": null, "location": "5q31.1", "locusType": "gene with protein product", "aliases": [ "MAR" ], "previousSymbols": [], "ensemblId": "ENSG00000125347", "entrezId": 3659, "omim": [ "147575" ], "uniprot": [ "P10914" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 132481609, "end": 132490773, "strand": "-", "ensemblTranscript": "ENST00000245414.9", "refseqTranscript": "NM_002198.3", "ensemblProtein": "ENSP00000245414.4", "refseqProtein": "NP_002189.1", "exons": [ { "start": 132481609, "end": 132484075 }, { "start": 132484362, "end": 132484497 }, { "start": 132485667, "end": 132485716 }, { "start": 132486251, "end": 132486373 }, { "start": 132486557, "end": 132486686 }, { "start": 132486795, "end": 132486844 }, { "start": 132486954, "end": 132487130 }, { "start": 132487926, "end": 132488025 }, { "start": 132489392, "end": 132489483 }, { "start": 132490545, "end": 132490773 } ], "cds": { "start": 132483951, "end": 132489478 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 131817301, "end": 131826490, "strand": "-" }, "neighbourhood": { "release": "116", "start": 131986191, "end": 132986190, "genes": [ { "symbol": "", "ensemblId": "ENSG00000281938", "biotype": "protein_coding", "start": 131807143, "end": 132011637, "strand": "-" }, { "symbol": "ACSL6", "ensemblId": "ENSG00000164398", "biotype": "protein_coding", "start": 131949973, "end": 132012243, "strand": "-", "slug": "acsl6" }, { "symbol": "IL3", "ensemblId": "ENSG00000164399", "biotype": "protein_coding", "start": 132060655, "end": 132063204, "strand": "+", "slug": "il3" }, { "symbol": "CSF2", "ensemblId": "ENSG00000164400", "biotype": "protein_coding", "start": 132073784, "end": 132076170, "strand": "+", "slug": "csf2" }, { "symbol": "P4HA2", "ensemblId": "ENSG00000072682", "biotype": "protein_coding", 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"ensemblId": "ENSG00000169194", "biotype": "protein_coding", "start": 132656263, "end": 132661110, "strand": "+", "slug": "il13" }, { "symbol": "IL4", "ensemblId": "ENSG00000113520", "biotype": "protein_coding", "start": 132673986, "end": 132682678, "strand": "+", "slug": "il4" }, { "symbol": "KIF3A", "ensemblId": "ENSG00000131437", "biotype": "protein_coding", "start": 132688806, "end": 132737638, "strand": "-", "slug": "kif3a" }, { "symbol": "CCNI2", "ensemblId": "ENSG00000205089", "biotype": "protein_coding", "start": 132747319, "end": 132765178, "strand": "+", "slug": "ccni2" }, { "symbol": "SEPTIN8", "ensemblId": "ENSG00000164402", "biotype": "protein_coding", "start": 132750138, "end": 132807241, "strand": "-", "slug": "septin8" }, { "symbol": "SOWAHA", "ensemblId": "ENSG00000198944", "biotype": "protein_coding", "start": 132813302, "end": 132816786, "strand": "+", "slug": "sowaha" }, { "symbol": "SHROOM1", "ensemblId": "ENSG00000164403", "biotype": "protein_coding", "start": 132821271, "end": 132830924, "strand": "-", "slug": "shroom1" }, { "symbol": "GDF9", "ensemblId": "ENSG00000164404", "biotype": "protein_coding", "start": 132861181, "end": 132866884, "strand": "-", "slug": "gdf9" }, { "symbol": "UQCRQ", "ensemblId": "ENSG00000164405", "biotype": "protein_coding", "start": 132866623, "end": 132868847, "strand": "+", "slug": "uqcrq" }, { "symbol": "LEAP2", "ensemblId": "ENSG00000164406", "biotype": "protein_coding", "start": 132873444, "end": 132899343, "strand": "+", "slug": "leap2" }, { "symbol": "AFF4", "ensemblId": "ENSG00000072364", "biotype": "protein_coding", "start": 132875395, "end": 132963931, "strand": "-", "slug": "aff4" } ], "truncated": false }, "reports": [ { "slug": "immunodeficiency-disease", "name": "Diğer Doğuştan İmmün Yetmezlikler", "diseases": [ { "mondoId": "MONDO:0021094", "name": "İmmün Yetmezlik Hastalığı", "genes": 170, "inheritance": null, "description": "Hücresel veya humoral bağışıklık mekanizmalarında eksiklik ya da bozukluk bulunan hastalık.", "management": "Ağır kombine immün yetmezlik (SCID) ve ağır primer immün yetmezlikler için HSCT; antikor eksikliklerinde immünoglobulin replasmanı (IVIG/SCIG); APDS için lenyolisib (Joenja, FDA 2023); ADA-SCID için gen tedavisi; CTLA4/LRBA eksikliği için abatasept; profilaktik antibiyotikler; KGH için G-CSF", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "alveolar-cell-carcinoma", "name": "Alveolar cell carcinoma", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "url": "https://dantelabs.com/traits/alveolar-cell-carcinoma" }, { "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": "bcgitis", "name": "BCGitis", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bcgitis" }, { "slug": "bcgosis", "name": "BCGosis", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bcgosis" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "clubbing", "name": "Clubbing of fingers and toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clubbing" }, { "slug": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "decreased-central-memory-cd8-t-cell-proportion", "name": "Decreased central memory CD8+ T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-central-memory-cd8-t-cell-proportion" }, { "slug": "decreased-naive-cd8-t-cell-proportion", "name": "Decreased naive CD8+ T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-naive-cd8-t-cell-proportion" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "disseminated-non-tuberculous-mycobacterial-infection", "name": "Disseminated non-tuberculous mycobacterial infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/disseminated-non-tuberculous-mycobacterial-infection" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fever" }, { "slug": "increased-cd8-temra-t-cell-proportion", "name": "Increased CD8+ TEMRA T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-cd8-temra-t-cell-proportion" }, { "slug": "increased-circulating-iga-concentration", "name": "Increased circulating IgA concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration" }, { "slug": "increased-effector-memory-cd8-t-cell-proportion", "name": "Increased effector memory CD8+ T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-effector-memory-cd8-t-cell-proportion" }, { "slug": "increased-level-of-l-fucose-in-urine", "name": "Increased level of L-fucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/increased-level-of-l-fucose-in-urine" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "increased-transitional-b-cell-proportion", "name": "Increased transitional B cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-transitional-b-cell-proportion" }, { "slug": "lymphadenitis", "name": "Inflammation of the lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lymphadenitis" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "decreased-total-t-cell-count", "name": "Low T cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-t-cell-count" }, { "slug": "lung-adenocarcinoma", "name": "Lung adenocarcinoma", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "url": "https://dantelabs.com/traits/lung-adenocarcinoma" }, { "slug": "non-small-cell-lung-carcinoma", "name": "Non-small cell lung carcinoma", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "url": "https://dantelabs.com/traits/non-small-cell-lung-carcinoma" }, { "slug": "nontuberculous-mycobacterial-pulmonary-infection", "name": "Nontuberculous mycobacterial pulmonary infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nontuberculous-mycobacterial-pulmonary-infection" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "positive-mycobacterium-avium-sputum-culture", "name": "Positive Mycobacterium avium sputum culture", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/positive-mycobacterium-avium-sputum-culture" }, { "slug": "pustular-rash", "name": "Pustular rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pustular-rash" }, { "slug": "recurrent-lower-respiratory-tract-infections", "name": "Recurrent chest infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections" }, { "slug": "recurrent-mycobacterial-infections", "name": "Recurrent mycobacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections" }, { "slug": "reduced-total-natural-killer-cell-count", "name": "Reduced total natural killer cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count" }, { "slug": "sinusitis", "name": "Sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sinusitis" }, { "slug": "stomach-cancer", "name": "Stomach cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/stomach-cancer" }, { "slug": "mediastinal-lymphadenopathy", "name": "Swollen lymph nodes in center of chest", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system", "abnormality-of-the-thoracic-cavity" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mediastinal-lymphadenopathy" }, { "slug": "unusual-histoplasma-capsulatum-infection", "name": "Unusual Histoplasma capsulatum infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unusual-histoplasma-capsulatum-infection" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/tr/genes/ada" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/tr/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/ak2" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/tr/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/tr/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/tr/genes/atm" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/atp6ap1" }, { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "shared": 1, "url": "https://dantelabs.com/tr/genes/b2m" }, { "slug": "bach2", "symbol": "BACH2", "name": "BACH transcriptional regulator 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/bach2" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/tr/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 1, "url": "https://dantelabs.com/tr/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 1, "url": "https://dantelabs.com/tr/genes/blnk" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }