DOCK10
Basic information
Region (hg38): 2:224765090-225042468
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 DOCK10 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 | 103 | 109 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | 2 | |||
non coding | 0 | |||||
Total | 0 | 0 | 103 | 5 | 4 |
Variants in DOCK10
This is a list of pathogenic ClinVar variants found in the DOCK10 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-224765733-A-C | not specified | Uncertain significance (Nov 21, 2024) | ||
2-224765764-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
2-224765780-T-C | not specified | Uncertain significance (Jun 13, 2023) | ||
2-224765792-A-G | not specified | Uncertain significance (Jul 09, 2024) | ||
2-224765831-C-A | not specified | Likely benign (Feb 28, 2023) | ||
2-224770222-T-C | not specified | Uncertain significance (Apr 07, 2022) | ||
2-224770225-C-T | not specified | Likely benign (Jul 02, 2024) | ||
2-224770227-G-A | not specified | Uncertain significance (Feb 28, 2024) | ||
2-224770237-C-T | not specified | Uncertain significance (Aug 04, 2023) | ||
2-224770248-T-A | not specified | Uncertain significance (Oct 20, 2024) | ||
2-224770333-A-C | not specified | Uncertain significance (Jun 29, 2022) | ||
2-224770336-C-T | not specified | Uncertain significance (Feb 06, 2024) | ||
2-224770558-T-C | not specified | Uncertain significance (Jan 02, 2024) | ||
2-224770614-G-T | not specified | Uncertain significance (Jan 23, 2023) | ||
2-224770617-C-T | not specified | Uncertain significance (Jun 26, 2024) | ||
2-224770618-G-C | not specified | Uncertain significance (Jul 09, 2024) | ||
2-224770628-C-T | not specified | Uncertain significance (Nov 09, 2023) | ||
2-224773259-G-A | Benign (Jul 04, 2018) | |||
2-224774916-G-A | not specified | Uncertain significance (Dec 09, 2024) | ||
2-224774961-G-A | not specified | Uncertain significance (May 01, 2022) | ||
2-224774991-C-T | not specified | Uncertain significance (Apr 23, 2024) | ||
2-224774992-G-T | not specified | Uncertain significance (Apr 04, 2023) | ||
2-224775027-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
2-224775068-G-A | Benign (Jul 06, 2018) | |||
2-224775111-T-C | not specified | Uncertain significance (Dec 02, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DOCK10 | protein_coding | protein_coding | ENST00000258390 | 56 | 277356 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000255 | 1.00 | 124561 | 0 | 79 | 124640 | 0.000317 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.88 | 922 | 1.10e+3 | 0.840 | 0.0000586 | 14382 |
Missense in Polyphen | 331 | 422.94 | 0.78261 | 5444 | ||
Synonymous | 1.31 | 373 | 407 | 0.917 | 0.0000232 | 3959 |
Loss of Function | 7.11 | 34 | 117 | 0.291 | 0.00000584 | 1550 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000560 | 0.000559 |
Ashkenazi Jewish | 0.000102 | 0.0000994 |
East Asian | 0.000280 | 0.000278 |
Finnish | 0.000287 | 0.000278 |
European (Non-Finnish) | 0.000444 | 0.000434 |
Middle Eastern | 0.000280 | 0.000278 |
South Asian | 0.000177 | 0.000163 |
Other | 0.000167 | 0.000165 |
dbNSFP
Source:
- Function
- FUNCTION: Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP. Essential for dendritic spine morphogenesis in Purkinje cells and in hippocampal neurons, via a CDC42-mediated pathway. Sustains B-cell lymphopoiesis in secondary lymphoid tissues and regulates FCER2/CD23 expression. {ECO:0000250|UniProtKB:Q8BZN6}.;
- Pathway
- Factors involved in megakaryocyte development and platelet production;Integrin;Hemostasis;Regulation of CDC42 activity
(Consensus)
Recessive Scores
- pRec
- 0.123
Intolerance Scores
- loftool
- 0.599
- rvis_EVS
- -1.07
- rvis_percentile_EVS
- 7.38
Haploinsufficiency Scores
- pHI
- 0.228
- hipred
- N
- hipred_score
- 0.475
- ghis
- 0.549
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.775
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dock10
- Phenotype
- immune system phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- B cell homeostasis;marginal zone B cell differentiation;small GTPase mediated signal transduction;regulation of cell migration;positive regulation of GTPase activity;dendritic spine morphogenesis
- Cellular component
- nucleus;nucleoplasm;cytoplasm;cytosol;membrane;dendritic spine;extracellular exosome
- Molecular function
- molecular_function;guanyl-nucleotide exchange factor activity