DOCK4

dedicator of cytokinesis 4, the group of DOCK family Rho GEFs

Basic information

Region (hg38): 7:111726110-112206407

Links

ENSG00000128512

∙ NCBI:9732 ∙ OMIM:607679 ∙ HGNC:19192 ∙ Uniprot:Q8N1I0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DOCK4 gene.

not_specified (200 variants)
not_provided (47 variants)
Neurodevelopmental_disorder (11 variants)
DOCK4-related_disorder (11 variants)
Autism_spectrum_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOCK4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001363540.2. 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				14 clinvar	6 clinvar	20
missense		3 clinvar	220 clinvar	9 clinvar	5 clinvar	237
nonsense			3 clinvar			3
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	3	226	23	11

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOCK4	protein_coding	protein_coding	ENST00000437633	52	480301

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.826	0.174	124611	0	48	124659	0.000193

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.52	826	1.06e+3	0.782	0.0000599	12859
Missense in Polyphen		207	333.14	0.62136		4153
Synonymous	0.654	380	397	0.958	0.0000233	3623
Loss of Function	7.83	25	116	0.216	0.00000642	1366

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000570	0.000568
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000182	0.000177
Middle Eastern	0.000111	0.000111
South Asian	0.000198	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP. {ECO:0000269|PubMed:12628187, ECO:0000269|PubMed:20679435}.;
Pathway: Rap1 signaling pathway - Homo sapiens (human);Factors involved in megakaryocyte development and platelet production;Integrin;EGFR1;Hemostasis;PDGFR-beta signaling pathway (Consensus)

Recessive Scores

pRec: 0.0997

Intolerance Scores

loftool: 0.717
rvis_EVS: -0.83
rvis_percentile_EVS: 11.53

Haploinsufficiency Scores

pHI: 0.358
hipred: Y
hipred_score: 0.652
ghis: 0.535

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.943

Mouse Genome Informatics

Gene name: Dock4
Phenotype: neoplasm; 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);

Zebrafish Information Network

Gene name: dock4a
Affected structure: erythroid progenitor cell
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: small GTPase mediated signal transduction;positive regulation of GTPase activity;cell chemotaxis;negative regulation of vascular smooth muscle contraction;positive regulation of vascular associated smooth muscle cell migration
Cellular component: nucleolus;Golgi apparatus;cytosol;plasma membrane;membrane;stereocilium;stereocilium bundle
Molecular function: guanyl-nucleotide exchange factor activity;GTPase activator activity;protein binding;SH3 domain binding;PDZ domain binding;receptor tyrosine kinase binding;Rac GTPase binding