{ "url": "https://dantelabs.com/lt/genes/dab1", "gene": { "slug": "dab1", "symbol": "DAB1", "name": "DAB adaptor protein 1", "hgnc": "HGNC:2661", "summary": null, "location": "1p32.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000173406", "entrezId": 1600, "omim": [ "603448" ], "uniprot": [ "O75553" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 56994778, "end": 57424060, "strand": "-", "ensemblTranscript": "ENST00000371236.7", "refseqTranscript": "NM_001365792.1", "ensemblProtein": "ENSP00000360280.1", "refseqProtein": "NP_001352721.1", "exons": [ { "start": 56994778, "end": 56998128 }, { "start": 57010680, "end": 57010790 }, { "start": 57011145, "end": 57011272 }, { "start": 57014883, "end": 57015431 }, { "start": 57023531, "end": 57023639 }, { "start": 57025981, "end": 57026043 }, { "start": 57062884, "end": 57062943 }, { "start": 57069360, "end": 57069425 }, { "start": 57071023, "end": 57071061 }, { "start": 57071522, "end": 57071641 }, { "start": 57072283, "end": 57072414 }, { "start": 57136543, "end": 57136641 }, { "start": 57145290, "end": 57145429 }, { "start": 57290964, "end": 57291166 }, { "start": 57423930, "end": 57424060 } ], "cds": { "start": 57010695, "end": 57291030 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 57460451, "end": 59012406, "strand": "-" }, "neighbourhood": { "release": "116", "start": 56565495, "end": 57853343, "genes": [ { "symbol": "PLPP3", "ensemblId": "ENSG00000162407", "biotype": "protein_coding", "start": 56494751, "end": 56645301, "strand": "-", "slug": "plpp3" }, { "symbol": "PRKAA2", "ensemblId": "ENSG00000162409", "biotype": "protein_coding", "start": 56645206, "end": 56715335, "strand": "+", "slug": "prkaa2" }, { "symbol": "FYB2", "ensemblId": "ENSG00000187889", "biotype": "protein_coding", "start": 56718789, "end": 56819735, "strand": "-", "slug": "fyb2" }, { "symbol": "C8A", "ensemblId": "ENSG00000157131", "biotype": "protein_coding", "start": 56854752, "end": 56918223, "strand": "+", "slug": "c8a" }, { "symbol": "C8B", "ensemblId": "ENSG00000021852", "biotype": "protein_coding", "start": 56928282, "end": 56974383, "strand": "-", "slug": "c8b" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Autosominės dominantinės smegenėlių ataksijos (SCA ir DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Autosominė dominantinė smegenėlių ataksija", "genes": 36, "inheritance": "autosomal-dominant", "description": "Dominuojančiai paveldimų ataksijų grupė, įskaitant SCA1, SCA2, SCA3 (Machado-Joseph liga), SCA6, SCA7, SCA17, SCA27B ir DRPLA, kurias sukelia pasikartojančių sekų išplitimai arba taškiniai variantai tokiuose genuose kaip ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 ir FGF14.", "management": "Genetinė konsultacija ir presimptominis tyrimas giminaičiams, fizioterapija bei simptomų valdymas; kai kurioms formoms, pavyzdžiui SCA27B, gali padėti specifinis gydymas vaistais.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/autosomal-dominant-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-conjugate-eye-movement", "name": "Abnormal conjugate eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-conjugate-eye-movement" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "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": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "cogwheel-rigidity", "name": "Cogwheel rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cogwheel-rigidity" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "diffuse-cerebellar-atrophy", "name": "Diffuse cerebellar atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diffuse-cerebellar-atrophy" }, { "slug": "scanning-speech", "name": "Explosive speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scanning-speech" }, { "slug": "falls", "name": "Falls", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/falls" }, { "slug": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "somatic-sensory-dysfunction", "name": "Somatic sensory dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "limb-dysmetria", "name": "Uncoordinated limb movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-dysmetria" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unsteady-gait" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 1, "url": "https://dantelabs.com/lt/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/atxn3" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 1, "url": "https://dantelabs.com/lt/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 1, "url": "https://dantelabs.com/lt/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 1, "url": "https://dantelabs.com/lt/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/camta1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }