DOCK5

dedicator of cytokinesis 5, the group of MicroRNA protein coding host genes|DOCK family Rho GEFs

Basic information

Region (hg38): 8:25184689-25418082

Links

ENSG00000147459

∙ NCBI:80005 ∙ OMIM:616904 ∙ HGNC:23476 ∙ Uniprot:Q9H7D0 ∙ 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 DOCK5 gene.

not_specified (251 variants)
not_provided (14 variants)
Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOCK5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024940.8. 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				7 clinvar	2 clinvar	9
missense			245 clinvar	9 clinvar	1 clinvar	255
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	245	16	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOCK5	protein_coding	protein_coding	ENST00000276440	52	233361

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.90e-9	1.00	125543	0	93	125636	0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	907	1.00e+3	0.907	0.0000554	12297
Missense in Polyphen		255	329.57	0.77374		4013
Synonymous	0.361	370	379	0.976	0.0000221	3401
Loss of Function	6.40	36	108	0.334	0.00000574	1330

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000916	0.000901
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.000109	0.000109
Finnish	0.000868	0.000832
European (Non-Finnish)	0.000369	0.000361
Middle Eastern	0.000109	0.000109
South Asian	0.000166	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Guanine nucleotide exchange factor (GEF) for Rho and Rac. GEF proteins activate small GTPases by exchanging bound GDP for free GTP (By similarity). Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829). {ECO:0000250|UniProtKB:B2RY04, ECO:0000269|PubMed:19004829}.;
Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Factors involved in megakaryocyte development and platelet production;Integrin;Hemostasis (Consensus)

Recessive Scores

pRec: 0.150

Intolerance Scores

loftool: 0.874
rvis_EVS: -2.35
rvis_percentile_EVS: 1.15

Haploinsufficiency Scores

pHI
hipred: Y
hipred_score: 0.706
ghis: 0.532

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.376

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Dock5
Phenotype: vision/eye phenotype; embryo 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); muscle phenotype;

Zebrafish Information Network

Gene name: dock5
Affected structure: fast muscle cell
Phenotype tag: abnormal
Phenotype quality: mononucleate

Gene ontology

Biological process: small GTPase mediated signal transduction;positive regulation of epithelial cell migration;positive regulation of substrate adhesion-dependent cell spreading;negative regulation of vascular smooth muscle contraction;positive regulation of vascular associated smooth muscle cell migration
Cellular component: cytoplasm;cytosol;plasma membrane
Molecular function: guanyl-nucleotide exchange factor activity;protein binding