{ "url": "https://dantelabs.com/genes/ubtf", "gene": { "slug": "ubtf", "symbol": "UBTF", "name": "upstream binding transcription factor", "hgnc": "HGNC:12511", "summary": null, "location": "17q21.31", "locusType": "gene with protein product", "aliases": [ "UBF", "NOR-90", "UBF1", "UBF2" ], "previousSymbols": [], "ensemblId": "ENSG00000108312", "entrezId": 7343, "omim": [ "600673" ], "uniprot": [ "P17480" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 44205040, "end": 44219675, "strand": "-", "ensemblTranscript": "ENST00000436088.6", "refseqTranscript": "NM_014233.4", "ensemblProtein": "ENSP00000390669.1", "refseqProtein": "NP_055048.1", "exons": [ { "start": 44205040, "end": 44207367 }, { "start": 44207454, "end": 44207597 }, { "start": 44207699, "end": 44207770 }, { "start": 44207864, "end": 44207911 }, { "start": 44209352, "end": 44209541 }, { "start": 44209645, "end": 44209733 }, { "start": 44210124, "end": 44210234 }, { "start": 44210318, "end": 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"protein_coding", "start": 43763629, "end": 43779000, "strand": "-", "slug": "dusp3" }, { "symbol": "CFAP97D1", "ensemblId": "ENSG00000231256", "biotype": "protein_coding", "start": 43780426, "end": 43787620, "strand": "+", "slug": "cfap97d1" }, { "symbol": "MPP3", "ensemblId": "ENSG00000161647", "biotype": "protein_coding", "start": 43800795, "end": 43833203, "strand": "-", "slug": "mpp3" }, { "symbol": "CD300LG", "ensemblId": "ENSG00000161649", "biotype": "protein_coding", "start": 43847114, "end": 43863639, "strand": "+", "slug": "cd300lg" }, { "symbol": "MPP2", "ensemblId": "ENSG00000108852", "biotype": "protein_coding", "start": 43875352, "end": 43909711, "strand": "-", "slug": "mpp2" }, { "symbol": "PPY", "ensemblId": "ENSG00000108849", "biotype": "protein_coding", "start": 43940804, "end": 43952444, "strand": "-", "slug": "ppy" }, { "symbol": "PYY", "ensemblId": "ENSG00000131096", "biotype": "protein_coding", "start": 43952733, "end": 44004469, "strand": "-", "slug": "pyy" }, { "symbol": "NAGS", "ensemblId": "ENSG00000161653", "biotype": "protein_coding", "start": 44004581, "end": 44011213, "strand": "+", "slug": "nags" }, { "symbol": "TMEM101", "ensemblId": "ENSG00000091947", "biotype": "protein_coding", "start": 44008986, "end": 44023946, "strand": "-", "slug": "tmem101" }, { "symbol": "LSM12", "ensemblId": "ENSG00000161654", "biotype": "protein_coding", "start": 44033931, "end": 44067619, "strand": "-", "slug": "lsm12" }, { "symbol": "G6PC3", "ensemblId": "ENSG00000141349", "biotype": "protein_coding", "start": 44070620, "end": 44094678, "strand": "+", "slug": "g6pc3" }, { "symbol": "HDAC5", "ensemblId": "ENSG00000108840", "biotype": "protein_coding", "start": 44076746, "end": 44123702, "strand": "-", "slug": "hdac5" }, { "symbol": "HROB", "ensemblId": "ENSG00000125319", "biotype": "protein_coding", "start": 44141903, "end": 44162481, "strand": "+", "slug": "hrob" }, { "symbol": "ASB16", "ensemblId": "ENSG00000161664", "biotype": "protein_coding", "start": 44170447, "end": 44179373, "strand": "+", "slug": "asb16" }, { "symbol": "TMUB2", "ensemblId": "ENSG00000168591", "biotype": "protein_coding", "start": 44186955, "end": 44191931, "strand": "+", "slug": "tmub2" }, { "symbol": "ATXN7L3", "ensemblId": "ENSG00000087152", "biotype": "protein_coding", "start": 44191804, "end": 44200961, "strand": "-", "slug": "atxn7l3" }, { "symbol": "SLC4A1", "ensemblId": "ENSG00000004939", "biotype": "protein_coding", "start": 44248390, "end": 44268162, "strand": "-", "slug": "slc4a1" }, { "symbol": "RUNDC3A", "ensemblId": "ENSG00000108309", "biotype": "protein_coding", "start": 44307945, "end": 44318675, "strand": "+", "slug": "rundc3a" }, { "symbol": "SLC25A39", "ensemblId": "ENSG00000013306", "biotype": "protein_coding", "start": 44316821, "end": 44326639, "strand": "-", "slug": "slc25a39" }, { "symbol": "GRN", "ensemblId": "ENSG00000030582", "biotype": "protein_coding", "start": 44345108, "end": 44353106, "strand": "+", "slug": "grn" }, { "symbol": "FAM171A2", "ensemblId": "ENSG00000161682", "biotype": "protein_coding", "start": 44353215, "end": 44363875, "strand": "-", "slug": "fam171a2" }, { "symbol": "ITGA2B", "ensemblId": "ENSG00000005961", "biotype": "protein_coding", "start": 44372177, "end": 44389649, "strand": "-", "slug": "itga2b" }, { "symbol": "GPATCH8", "ensemblId": "ENSG00000186566", "biotype": "protein_coding", "start": 44395281, "end": 44503639, "strand": "-", "slug": "gpatch8" }, { "symbol": "FZD2", "ensemblId": "ENSG00000180340", "biotype": "protein_coding", "start": 44557484, "end": 44561262, "strand": "+", "slug": "fzd2" }, { "symbol": "MEIOC", "ensemblId": "ENSG00000180336", "biotype": "protein_coding", "start": 44656363, "end": 44690308, "strand": "+", "slug": "meioc" }, { "symbol": "CCDC43", "ensemblId": "ENSG00000180329", "biotype": "protein_coding", "start": 44671063, "end": 44689831, "strand": "-", "slug": "ccdc43" }, { "symbol": "DBF4B", "ensemblId": "ENSG00000161692", "biotype": "protein_coding", "start": 44708595, "end": 44752269, "strand": "+", "slug": "dbf4b" } ], "truncated": false }, "reports": [ { "slug": "ubtf-related-neuroregression", "name": "UBTF-Related Neuroregression", "diseases": [ { "mondoId": "MONDO:0044701", "name": "UBTF-Related Neuroregression", "genes": 1, "inheritance": "autosomal-dominant", "description": "Caused by a specific change in one copy of the UBTF gene (most often p.Glu210Lys), which alters control of ribosomal RNA production in brain cells. Almost all cases arise de novo, meaning the change is new in the child.", "management": "Care is supportive, including neurology follow-up, physiotherapy, communication aids, nutrition and treatment of movement symptoms. Specific treatments are still being researched. Most cases arise de novo, but genetic counselling and parental testing help clarify recurrence risk.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/conditions/ubtf-related-neuroregression" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "axonal-loss", "name": "Axonal loss", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/axonal-loss" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chorea" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "decreased-body-weight", "name": "Decreased body weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/decreased-body-weight" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/floppy-infant" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "secondary-microcephaly", "name": "Development of small head that was not present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/secondary-microcephaly" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "aphasia", "name": "Difficulty finding words", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aphasia" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "gastrostomy-tube-feeding-in-infancy", "name": "Gastrostomy tube feeding in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "hyperintensity-of-cerebral-white-matter-on-mri", "name": "Hyperintensity of cerebral white matter on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri" }, { "slug": "impaired-pain-sensation", "name": "Impaired pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-pain-sensation" }, { "slug": "impulsivity", "name": "Impulsivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impulsivity" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "limb-hypertonia", "name": "Increased muscle tone of arm or leg", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limb-hypertonia" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "neurodegeneration", "name": "Ongoing loss of nerve cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/neurodegeneration" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "peripheral-demyelination", "name": "Peripheral demyelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-demyelination" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }