{ "url": "https://dantelabs.com/et/genes/unc93b1", "gene": { "slug": "unc93b1", "symbol": "UNC93B1", "name": "unc-93B1 regulator of TLR signaling", "hgnc": "HGNC:13481", "summary": null, "location": "11q13.2", "locusType": "gene with protein product", "aliases": [ "UNC93", "UNC-93B" ], "previousSymbols": [], "ensemblId": "ENSG00000110057", "entrezId": 81622, "omim": [ "608204" ], "uniprot": [ "Q9H1C4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 67991100, "end": 68004097, "strand": "-", "ensemblTranscript": "ENST00000227471.7", "refseqTranscript": "NM_030930.4", "ensemblProtein": "ENSP00000227471.3", "refseqProtein": "NP_112192.2", "exons": [ { "start": 67991100, "end": 67991857 }, { "start": 67993676, "end": 67993794 }, { "start": 67995611, "end": 67995884 }, { "start": 67996602, "end": 67996784 }, { "start": 67997675, "end": 67997799 }, { "start": 67998359, "end": 67998452 }, { "start": 67999173, "end": 67999305 }, { "start": 67999519, "end": 67999680 }, { "start": 68003022, "end": 68003175 }, { "start": 68003657, "end": 68003798 }, { "start": 68003948, "end": 68004097 } ], "cds": { "start": 67991546, "end": 68004043 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 67758575, "end": 67772452, "strand": "-" }, "neighbourhood": { "release": "116", "start": 67497599, "end": 68497598, "genes": [ { "symbol": "PITPNM1", "ensemblId": "ENSG00000110697", "biotype": "protein_coding", "start": 67491075, "end": 67506263, "strand": "-", "slug": "pitpnm1" }, { "symbol": "CDK2AP2", "ensemblId": "ENSG00000167797", "biotype": "protein_coding", "start": 67506490, "end": 67508701, "strand": "-", "slug": "cdk2ap2" }, { "symbol": "CABP2", "ensemblId": "ENSG00000167791", "biotype": "protein_coding", "start": 67518912, "end": 67524517, "strand": "-", "slug": "cabp2" }, { "symbol": "GSTP1", "ensemblId": "ENSG00000084207", "biotype": "protein_coding", "start": 67583523, "end": 67592110, "strand": "+", "slug": "gstp1" }, { "symbol": "NDUFV1", "ensemblId": "ENSG00000167792", "biotype": "protein_coding", "start": 67605653, "end": 67612554, "strand": "+", "slug": "ndufv1" }, { "symbol": "NUDT8", "ensemblId": "ENSG00000167799", "biotype": "protein_coding", "start": 67627937, "end": 67630112, "strand": "-", "slug": "nudt8" }, { "symbol": "TBX10", "ensemblId": "ENSG00000167800", "biotype": "protein_coding", "start": 67631303, "end": 67639767, "strand": "-", "slug": "tbx10" }, { "symbol": "ACY3", "ensemblId": "ENSG00000132744", "biotype": "protein_coding", "start": 67642551, "end": 67650900, "strand": "-", "slug": "acy3" }, { "symbol": "ALDH3B2", "ensemblId": "ENSG00000132746", "biotype": "protein_coding", "start": 67662155, "end": 67681224, "strand": "-", "slug": "aldh3b2" }, { "symbol": "ALDH3B1", "ensemblId": "ENSG00000006534", "biotype": "protein_coding", "start": 68008543, "end": 68029282, "strand": "+", "slug": "aldh3b1" }, { "symbol": "NDUFS8", "ensemblId": "ENSG00000110717", "biotype": "protein_coding", "start": 68030617, "end": 68036649, "strand": "+", "slug": "ndufs8" }, { "symbol": "TCIRG1", "ensemblId": "ENSG00000110719", "biotype": "protein_coding", "start": 68038977, "end": 68050899, "strand": "+", "slug": "tcirg1" }, { "symbol": "CHKA", "ensemblId": "ENSG00000110721", "biotype": "protein_coding", "start": 68052848, "end": 68121449, "strand": "-", "slug": "chka" }, { "symbol": "KMT5B", "ensemblId": "ENSG00000110066", "biotype": "protein_coding", "start": 68154863, "end": 68214134, "strand": "-", "slug": "kmt5b" }, { "symbol": "C11orf24", "ensemblId": "ENSG00000171067", "biotype": "protein_coding", "start": 68261335, "end": 68272001, "strand": "-", "slug": "c11orf24" }, { "symbol": "LRP5", "ensemblId": "ENSG00000162337", "biotype": "protein_coding", "start": 68312430, "end": 68449275, "strand": "+", "slug": "lrp5" }, { "symbol": "PPP6R3", "ensemblId": "ENSG00000110075", "biotype": "protein_coding", "start": 68460475, "end": 68615343, "strand": "+", "slug": "ppp6r3" } ], "truncated": false }, "reports": [ { "slug": "autoimmune-disease", "name": "Autoimmuunhaigus", "diseases": [ { "mondoId": "MONDO:0007179", "name": "Autoimmuunhaigus", "genes": 20, "inheritance": null, "description": "Haigusseisund, mis tuleneb ühe või mitme elundi talitlushäirest või koe hävimisest, mis tekib indiviidi humoraalse või rakulise immuunvastuse tõttu tema enda koe komponentidele. See võib olla süsteemne (nt süsteemne erütematoosne luupus) või elundispetsiifiline (nt türeoidiit).", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/et/conditions/autoimmune-disease" }, { "slug": "systemic-lupus-erythematosus", "name": "Süsteemne erütematoosne luupus", "diseases": [ { "mondoId": "MONDO:0007915", "name": "Süsteemne erütematoosne luupus", "genes": 6, "inheritance": null, "description": "Autoimmuunne mitme organi haigus, mida tavaliselt seostatakse veresoonte kahjustuse ja autoantikehade tootmisega. Enamikul patsientidest esinevad antinukleaarsed antikehad (ANA). Anti-dsDNA või anti-Smith antikehade olemasolu on väga spetsiifiline.", "management": "Tavaline SLE: hüdroksüklorokviin, mükofenolaat, belimumab, anifrolumab; komplemendipuudulik luupus: värske külmutatud plasma asendusravi; interferonopaatia: anifrolumab, JAK-inhibiitorid; kõigil: päikesekaitse, kardiovaskulaarse riski juhtimine, raseduse planeerimine", "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/et/conditions/systemic-lupus-erythematosus" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-brain-morphology", "name": "Abnormal shape of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-brain-morphology" }, { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "addictive-alcohol-use", "name": "Addictive alcohol use", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/addictive-alcohol-use" }, { "slug": "cerebral-edema", "name": "Brain swelling", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-edema" }, { "slug": "chills", "name": "Chills", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chills" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coma" }, { "slug": "csf-lymphocytic-pleiocytosis", "name": "CSF lymphocytic pleiocytosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/csf-lymphocytic-pleiocytosis" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "reduced-consciousness", "name": "Disturbances of consciousness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-consciousness" }, { "slug": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "elevated-circulating-c-reactive-protein-concentration", "name": "Elevated circulating C-reactive protein concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration" }, { "slug": "increased-total-leukocyte-count", "name": "Elevated white blood count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-leukocyte-count" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "excessive-daytime-somnolence", "name": "Excessive daytime sleepiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/excessive-daytime-somnolence" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "focal-aware-seizure", "name": "Focal aware seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-aware-seizure" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "functional-motor-deficit", "name": "Functional motor deficit", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/functional-motor-deficit" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hsv-encephalitis", "name": "HSV encephalitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hsv-encephalitis" }, { "slug": "increased-total-neutrophil-count", "name": "Increased blood neutrophil counts", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-neutrophil-count" }, { "slug": "increased-csf-protein-concentration", "name": "Increased CSF protein concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-csf-protein-concentration" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "loss-of-consciousness", "name": "Loss of consciousness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-consciousness" }, { "slug": "hyponatremia", "name": "Low blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyponatremia" }, { "slug": "hypoglycorrhachia", "name": "Low glucose levels in cerebral spinal fluid", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoglycorrhachia" }, { "slug": "nausea-and-vomiting", "name": "Nausea and vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nausea-and-vomiting" }, { "slug": "nuchal-rigidity", "name": "Nuchal rigidity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nuchal-rigidity" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "respiratory-failure-requiring-assisted-ventilation", "name": "Respiratory failure requiring assisted ventilation", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation" }, { "slug": "recurrent-herpes", "name": "Susceptibility to herpesvirus", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-herpes" } ], "related": [ { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/et/genes/c1qa" }, { "slug": "dnase1l3", "symbol": "DNASE1L3", "name": "deoxyribonuclease 1L3", "shared": 2, "url": "https://dantelabs.com/et/genes/dnase1l3" }, { "slug": "prkcd", "symbol": "PRKCD", "name": "protein kinase C delta", "shared": 2, "url": "https://dantelabs.com/et/genes/prkcd" }, { "slug": "sat1", "symbol": "SAT1", "name": "spermidine/spermine N1-acetyltransferase 1", "shared": 2, "url": "https://dantelabs.com/et/genes/sat1" }, { "slug": "trex1", "symbol": "TREX1", "name": "three prime repair exonuclease 1", "shared": 2, "url": "https://dantelabs.com/et/genes/trex1" }, { "slug": "aire", "symbol": "AIRE", "name": "autoimmune regulator", "shared": 1, "url": "https://dantelabs.com/et/genes/aire" }, { "slug": "atp2c1", "symbol": "ATP2C1", "name": "ATPase secretory pathway Ca2+ transporting 1", "shared": 1, "url": "https://dantelabs.com/et/genes/atp2c1" }, { "slug": "casp10", "symbol": "CASP10", "name": "caspase 10", "shared": 1, "url": "https://dantelabs.com/et/genes/casp10" }, { "slug": "casp8", "symbol": "CASP8", "name": "caspase 8", "shared": 1, "url": "https://dantelabs.com/et/genes/casp8" }, { "slug": "cblb", "symbol": "CBLB", "name": "Cbl proto-oncogene B", "shared": 1, "url": "https://dantelabs.com/et/genes/cblb" }, { "slug": "chrng", "symbol": "CHRNG", "name": "cholinergic receptor nicotinic gamma subunit", "shared": 1, "url": "https://dantelabs.com/et/genes/chrng" }, { "slug": "ctla4", "symbol": "CTLA4", "name": "cytotoxic T-lymphocyte associated protein 4", "shared": 1, "url": "https://dantelabs.com/et/genes/ctla4" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }