DAB1

DAB adaptor protein 1

Basic information

Region (hg38): 1:56994778-58546734

Links

ENSG00000173406

∙ NCBI:1600 ∙ OMIM:603448 ∙ HGNC:2661 ∙ Uniprot:O75553 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

spinocerebellar ataxia type 37 (Supportive), mode of inheritance: AD
spinocerebellar ataxia type 37 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

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 ClinVar and linked to the DAB1 gene.

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			1 clinvar	15 clinvar		16
missense		1 clinvar	75 clinvar	11 clinvar	2 clinvar	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

Loading clinvar variants...

GnomAD

Source: gnomAD

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: dbNSFP

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