DOCK1
Basic information
Region (hg38): 10:126905409-127452517
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOCK1 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 | 3 | |||||
missense | 93 | 95 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 31 | 35 | ||||
Total | 0 | 1 | 126 | 9 | 0 |
Variants in DOCK1
This is a list of pathogenic ClinVar variants found in the DOCK1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-126970717-A-T | not specified | Uncertain significance (Aug 05, 2024) | ||
10-126977966-C-T | not specified | Uncertain significance (May 26, 2024) | ||
10-126981957-A-G | not specified | Uncertain significance (Feb 03, 2023) | ||
10-126987579-C-G | not specified | Uncertain significance (Feb 08, 2023) | ||
10-126990477-G-A | not specified | Uncertain significance (Oct 03, 2023) | ||
10-126990479-A-G | not specified | Uncertain significance (May 10, 2023) | ||
10-126990483-T-G | not specified | Uncertain significance (Feb 17, 2024) | ||
10-126990486-G-A | not specified | Uncertain significance (Dec 21, 2022) | ||
10-126990507-T-C | not specified | Uncertain significance (Apr 28, 2023) | ||
10-126990516-G-A | not specified | Uncertain significance (Feb 03, 2022) | ||
10-126990564-TGAA-T | Inborn genetic diseases | Uncertain significance (May 17, 2017) | ||
10-126996756-A-G | not specified | Uncertain significance (Dec 03, 2024) | ||
10-126996800-C-T | not specified | Uncertain significance (Mar 30, 2024) | ||
10-126996851-A-G | not specified | Uncertain significance (May 03, 2023) | ||
10-126996854-C-G | not specified | Uncertain significance (Oct 04, 2024) | ||
10-126998122-C-G | not specified | Uncertain significance (Mar 22, 2022) | ||
10-126998240-A-C | not specified | Uncertain significance (Sep 20, 2024) | ||
10-126999361-T-C | not specified | Uncertain significance (Oct 05, 2023) | ||
10-127000184-A-G | not specified | Uncertain significance (Jan 17, 2024) | ||
10-127000197-G-T | not specified | Uncertain significance (Sep 20, 2023) | ||
10-127000238-C-T | not specified | Uncertain significance (May 16, 2022) | ||
10-127000256-A-G | not specified | Uncertain significance (Dec 06, 2022) | ||
10-127000278-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
10-127008761-A-G | not specified | Uncertain significance (Oct 06, 2024) | ||
10-127012360-A-G | not specified | Uncertain significance (Jan 16, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DOCK1 | protein_coding | protein_coding | ENST00000280333 | 52 | 656804 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00681 | 0.993 | 124792 | 2 | 353 | 125147 | 0.00142 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.41 | 808 | 1.03e+3 | 0.788 | 0.0000600 | 12276 |
Missense in Polyphen | 105 | 140.93 | 0.74507 | 1388 | ||
Synonymous | 0.0211 | 399 | 400 | 0.999 | 0.0000267 | 3325 |
Loss of Function | 7.49 | 29 | 116 | 0.250 | 0.00000667 | 1336 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0131 | 0.0131 |
Ashkenazi Jewish | 0.000706 | 0.000695 |
East Asian | 0.000228 | 0.000220 |
Finnish | 0.000792 | 0.000788 |
European (Non-Finnish) | 0.000455 | 0.000450 |
Middle Eastern | 0.000228 | 0.000220 |
South Asian | 0.00127 | 0.00121 |
Other | 0.00150 | 0.00148 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829). Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1 (PubMed:8657152). {ECO:0000269|PubMed:19004829, ECO:0000269|PubMed:8657152}.;
- Pathway
- Focal adhesion - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Shigellosis - Homo sapiens (human);Integrin-mediated Cell Adhesion;Androgen Receptor Network in Prostate Cancer;Focal Adhesion;Signaling of Hepatocyte Growth Factor Receptor;Regulation of Actin Cytoskeleton;Developmental Biology;Signaling by PTK6;Signal Transduction;VEGFA-VEGFR2 Pathway;Factors involved in megakaryocyte development and platelet production;Fcgamma receptor (FCGR) dependent phagocytosis;HGF;Innate Immune System;Immune System;DCC mediated attractive signaling;Integrin;EGFR1;Regulation of RAC1 activity;Hemostasis;Regulation of actin dynamics for phagocytic cup formation;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by Non-Receptor Tyrosine Kinases;Netrin-1 signaling;Signaling by VEGF;Axon guidance;Signaling by Receptor Tyrosine Kinases;Neurotrophic factor-mediated Trk receptor signaling;Netrin-mediated signaling events;Signaling events mediated by focal adhesion kinase;Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling;Alpha4 beta1 integrin signaling events
(Consensus)
Recessive Scores
- pRec
- 0.197
Haploinsufficiency Scores
- pHI
- 0.116
- hipred
- Y
- hipred_score
- 0.538
- ghis
- 0.563
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.700
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dock1
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; craniofacial phenotype; muscle phenotype; homeostasis/metabolism phenotype; immune system phenotype; cellular phenotype; respiratory system phenotype; embryo phenotype; neoplasm; 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); hematopoietic system 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); renal/urinary system phenotype; skeleton phenotype;
Zebrafish Information Network
- Gene name
- dock1
- Affected structure
- fast muscle cell
- Phenotype tag
- abnormal
- Phenotype quality
- mononucleate
Gene ontology
- Biological process
- phagocytosis, engulfment;apoptotic process;cytoskeleton organization;signal transduction;integrin-mediated signaling pathway;small GTPase mediated signal transduction;blood coagulation;positive regulation of epithelial cell migration;cell migration;Fc-gamma receptor signaling pathway involved in phagocytosis;positive regulation of GTPase activity;vascular endothelial growth factor receptor signaling pathway;positive regulation of substrate adhesion-dependent cell spreading
- Cellular component
- nucleus;cytoplasm;cytosol;membrane;nuclear speck;guanyl-nucleotide exchange factor complex
- Molecular function
- guanyl-nucleotide exchange factor activity;Rho guanyl-nucleotide exchange factor activity;GTPase activator activity;protein binding;SH3 domain binding