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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6	2	8
missense			110	5	2	117
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					1	1
Total	0	0	110	11	5

Variants in DOCK5

This is a list of pathogenic ClinVar variants found in the DOCK5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-25243674-C-T		not specified	Uncertain significance (Nov 17, 2022)
8-25243680-A-G		not specified	Uncertain significance (Nov 04, 2022)
8-25243689-A-G		not specified	Uncertain significance (May 16, 2023)
8-25243703-G-T		not specified	Uncertain significance (Oct 30, 2023)
8-25243754-G-A		not specified	Uncertain significance (Mar 22, 2023)
8-25268850-T-C		not specified	Uncertain significance (Jan 30, 2024)
8-25275432-A-G		not specified	Uncertain significance (May 26, 2023)
8-25278622-C-G		not specified	Uncertain significance (Feb 26, 2024)
8-25278642-G-A		not specified	Uncertain significance (Apr 26, 2024)
8-25278645-A-G		not specified	Uncertain significance (Apr 08, 2022)
8-25292031-A-G		not specified	Uncertain significance (Feb 21, 2024)
8-25292115-A-G		not specified	Uncertain significance (May 01, 2023)
8-25292157-T-C		not specified	Uncertain significance (Jan 08, 2024)
8-25292161-T-A		not specified	Uncertain significance (Mar 16, 2024)
8-25292168-A-C		not specified	Uncertain significance (Sep 30, 2024)
8-25296527-A-G		not specified	Uncertain significance (Dec 19, 2022)
8-25296539-G-A		not specified	Uncertain significance (Jul 17, 2024)
8-25296564-C-A		not specified	Uncertain significance (Mar 01, 2024)
8-25296583-A-G		not specified	Likely benign (Dec 28, 2023)
8-25296586-G-C		not specified	Uncertain significance (Apr 06, 2022)
8-25296596-A-G		not specified	Uncertain significance (Jul 13, 2022)
8-25296606-G-A			Likely benign (Oct 01, 2022)
8-25296607-G-A		not specified	Likely benign (May 16, 2022)
8-25298969-G-A		not specified	Uncertain significance (May 23, 2024)
8-25298975-A-G		not specified	Uncertain significance (Apr 27, 2023)

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

• 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