DOCK10

dedicator of cytokinesis 10, the group of Armadillo like helical domain containing|Pleckstrin homology domain containing|MicroRNA protein coding host genes|DOCK family Rho GEFs

Basic information

Region (hg38): 2:224765089-225042468

Links

ENSG00000135905 ∙ NCBI:55619 ∙ OMIM:611518 ∙ HGNC:23479 ∙ Uniprot:Q96BY6 ∙ 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 DOCK10 gene.

• Inborn genetic diseases (77 variants)
• not provided (7 variants)

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	3
missense			74	4	1	79
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	74	4	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
2-224765764-G-A		not specified	Uncertain significance (Oct 04, 2022)
2-224765780-T-C		not specified	Uncertain significance (Jun 13, 2023)
2-224765831-C-A		not specified	Likely benign (Feb 28, 2023)
2-224770222-T-C		not specified	Uncertain significance (Apr 07, 2022)
2-224770227-G-A		not specified	Uncertain significance (Feb 28, 2024)
2-224770237-C-T		not specified	Uncertain significance (Aug 04, 2023)
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 (May 25, 2022)
2-224770628-C-T		not specified	Uncertain significance (Nov 09, 2023)
2-224773259-G-A			Benign (Jul 04, 2018)
2-224774961-G-A		not specified	Uncertain significance (May 01, 2022)
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)
2-224778263-C-T		not specified	Uncertain significance (Dec 06, 2021)
2-224787126-C-T		not specified	Uncertain significance (Feb 23, 2023)
2-224789163-G-C		not specified	Uncertain significance (Dec 01, 2022)
2-224793015-G-C		not specified	Uncertain significance (Feb 14, 2023)
2-224793016-G-A		not specified	Uncertain significance (Feb 01, 2023)
2-224793441-A-T		not specified	Uncertain significance (Sep 26, 2023)
2-224795031-T-A		not specified	Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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