DOCK4
Basic information
Region (hg38): 7:111726110-112206407
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (200 variants)
- not_provided (47 variants)
- Neurodevelopmental_disorder (11 variants)
- DOCK4-related_disorder (11 variants)
- Autism_spectrum_disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOCK4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001363540.2. 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 | 14 | 20 | ||||
missense | 220 | 237 | ||||
nonsense | 3 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
Total | 0 | 3 | 226 | 23 | 11 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DOCK4 | protein_coding | protein_coding | ENST00000437633 | 52 | 480301 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.826 | 0.174 | 124611 | 0 | 48 | 124659 | 0.000193 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.52 | 826 | 1.06e+3 | 0.782 | 0.0000599 | 12859 |
Missense in Polyphen | 207 | 333.14 | 0.62136 | 4153 | ||
Synonymous | 0.654 | 380 | 397 | 0.958 | 0.0000233 | 3623 |
Loss of Function | 7.83 | 25 | 116 | 0.216 | 0.00000642 | 1366 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000570 | 0.000568 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000111 | 0.000111 |
Finnish | 0.000139 | 0.000139 |
European (Non-Finnish) | 0.000182 | 0.000177 |
Middle Eastern | 0.000111 | 0.000111 |
South Asian | 0.000198 | 0.000196 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP. {ECO:0000269|PubMed:12628187, ECO:0000269|PubMed:20679435}.;
- Pathway
- Rap1 signaling pathway - Homo sapiens (human);Factors involved in megakaryocyte development and platelet production;Integrin;EGFR1;Hemostasis;PDGFR-beta signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.0997
Intolerance Scores
- loftool
- 0.717
- rvis_EVS
- -0.83
- rvis_percentile_EVS
- 11.53
Haploinsufficiency Scores
- pHI
- 0.358
- hipred
- Y
- hipred_score
- 0.652
- ghis
- 0.535
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.943
Mouse Genome Informatics
- Gene name
- Dock4
- Phenotype
- neoplasm; 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); 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);
Zebrafish Information Network
- Gene name
- dock4a
- Affected structure
- erythroid progenitor cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- small GTPase mediated signal transduction;positive regulation of GTPase activity;cell chemotaxis;negative regulation of vascular smooth muscle contraction;positive regulation of vascular associated smooth muscle cell migration
- Cellular component
- nucleolus;Golgi apparatus;cytosol;plasma membrane;membrane;stereocilium;stereocilium bundle
- Molecular function
- guanyl-nucleotide exchange factor activity;GTPase activator activity;protein binding;SH3 domain binding;PDZ domain binding;receptor tyrosine kinase binding;Rac GTPase binding