DAB1
Basic information
Region (hg38): 1:56994778-58546734
Links
Phenotypes
GenCC
Source:
- spinocerebellar ataxia type 37 (Supportive), mode of inheritance: AD
- spinocerebellar ataxia type 37 (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Spinocerebellar ataxia 37 | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 28686858 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (72 variants)
- not_provided (36 variants)
- DAB1-related_disorder (12 variants)
- Spinocerebellar_ataxia_type_37 (5 variants)
- Anophthalmia-microphthalmia_syndrome (1 variants)
- Irido-corneo-trabecular_dysgenesis (1 variants)
- Spastic_ataxia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAB1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001365792.1. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 15 | 16 | ||||
missense | 75 | 11 | 89 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 1 | 76 | 26 | 2 |
Highest pathogenic variant AF is 0.0000025172938
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DAB1 | protein_coding | protein_coding | ENST00000371236 | 13 | 1551956 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.999 | 0.000848 | 125729 | 0 | 14 | 125743 | 0.0000557 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.52 | 245 | 322 | 0.762 | 0.0000176 | 3638 |
Missense in Polyphen | 54 | 107.43 | 0.50264 | 1218 | ||
Synonymous | 0.896 | 110 | 123 | 0.897 | 0.00000785 | 1056 |
Loss of Function | 4.67 | 2 | 29.3 | 0.0683 | 0.00000144 | 336 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000176 | 0.000176 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000743 | 0.0000703 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter molecule functioning in neural development. May regulate SIAH1 activity. {ECO:0000250|UniProtKB:P97318}.;
- Disease
- DISEASE: Spinocerebellar ataxia 37 (SCA37) [MIM:615945]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:28686858}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Splicing factor NOVA regulated synaptic proteins;Developmental Biology;Axon guidance;Reelin signalling pathway;Reelin signaling pathway;Lissencephaly gene (LIS1) in neuronal migration and development
(Consensus)
Recessive Scores
- pRec
- 0.165
Intolerance Scores
- loftool
- 0.268
- rvis_EVS
- -0.02
- rvis_percentile_EVS
- 52.09
Haploinsufficiency Scores
- pHI
- 0.589
- hipred
- Y
- hipred_score
- 0.591
- ghis
- 0.541
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.730
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dab1
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; immune system phenotype; cellular phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype;
Gene ontology
- Biological process
- negative regulation of cell adhesion;small GTPase mediated signal transduction;axon guidance;midgut development;adult walking behavior;dendrite development;ventral spinal cord development;cerebellum structural organization;hippocampus development;cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration;radial glia guided migration of Purkinje cell;response to drug;positive regulation of neuron differentiation;positive regulation of protein kinase activity;negative regulation of JAK-STAT cascade;negative regulation of astrocyte differentiation;negative regulation of axonogenesis;Golgi localization;lateral motor column neuron migration
- Cellular component
- cytosol;brush border;postsynaptic density;membrane;neuron projection;neuronal cell body;intracellular membrane-bounded organelle;apical part of cell;perinuclear region of cytoplasm
- Molecular function
- protein binding;phosphatidylinositol 3-kinase binding