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

ENSG00000147459NCBI:80005OMIM:616904HGNC:23476Uniprot:Q9H7D0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
2
clinvar
8
missense
110
clinvar
5
clinvar
2
clinvar
117
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
1
clinvar
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)2327008
8-25243680-A-G not specified Uncertain significance (Nov 04, 2022)2380578
8-25243689-A-G not specified Uncertain significance (May 16, 2023)2570072
8-25243703-G-T not specified Uncertain significance (Oct 30, 2023)3085060
8-25243754-G-A not specified Uncertain significance (Mar 22, 2023)2512861
8-25268850-T-C not specified Uncertain significance (Jan 30, 2024)3085028
8-25275432-A-G not specified Uncertain significance (May 26, 2023)2552343
8-25278622-C-G not specified Uncertain significance (Feb 26, 2024)3085038
8-25278642-G-A not specified Uncertain significance (Apr 26, 2024)3273373
8-25278645-A-G not specified Uncertain significance (Apr 08, 2022)2384995
8-25292031-A-G not specified Uncertain significance (Feb 21, 2024)3085042
8-25292115-A-G not specified Uncertain significance (May 01, 2023)2522280
8-25292157-T-C not specified Uncertain significance (Jan 08, 2024)3085051
8-25292161-T-A not specified Uncertain significance (Mar 16, 2024)3273367
8-25292168-A-C not specified Uncertain significance (Sep 30, 2024)3504499
8-25296527-A-G not specified Uncertain significance (Dec 19, 2022)2229138
8-25296539-G-A not specified Uncertain significance (Jul 17, 2024)3504479
8-25296564-C-A not specified Uncertain significance (Mar 01, 2024)3085058
8-25296583-A-G not specified Likely benign (Dec 28, 2023)3085059
8-25296586-G-C not specified Uncertain significance (Apr 06, 2022)2281382
8-25296596-A-G not specified Uncertain significance (Jul 13, 2022)2301278
8-25296606-G-A Likely benign (Oct 01, 2022)2658489
8-25296607-G-A not specified Likely benign (May 16, 2022)2289842
8-25298969-G-A not specified Uncertain significance (May 23, 2024)3273354
8-25298975-A-G not specified Uncertain significance (Apr 27, 2023)2541527

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DOCK5protein_codingprotein_codingENST00000276440 52233361
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.90e-91.001255430931256360.000370
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.059071.00e+30.9070.000055412297
Missense in Polyphen255329.570.773744013
Synonymous0.3613703790.9760.00002213401
Loss of Function6.40361080.3340.000005741330

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009160.000901
Ashkenazi Jewish0.00009940.0000993
East Asian0.0001090.000109
Finnish0.0008680.000832
European (Non-Finnish)0.0003690.000361
Middle Eastern0.0001090.000109
South Asian0.0001660.000163
Other0.0001630.000163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

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