DOCK9

dedicator of cytokinesis 9, the group of DOCK family Rho GEFs|Armadillo like helical domain containing|Pleckstrin homology domain containing

Basic information

Region (hg38): 13:98793429-99086625

Links

ENSG00000088387 ∙ NCBI:23348 ∙ OMIM:607325 ∙ HGNC:14132 ∙ Uniprot:Q9BZ29 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• keratoconus (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DOCK9 gene.

• not_specified (212 variants)
• not_provided (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOCK9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001366683.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				9	3	12
missense			205	2		207
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	205	11	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOCK9	protein_coding	protein_coding	ENST00000376460	56	293139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	5.07e-9	124642	0	23	124665	0.0000923

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.10	821	1.11e+3	0.739	0.0000622	13623
Missense in Polyphen		340	532.62	0.63835		6650
Synonymous	0.125	444	447	0.992	0.0000289	3742
Loss of Function	8.70	14	114	0.122	0.00000556	1478

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.000401	0.000397
East Asian	0.00	0.00
Finnish	0.000141	0.000139
European (Non-Finnish)	0.0000896	0.0000885
Middle Eastern	0.00	0.00
South Asian	0.0000369	0.0000327
Other	0.000173	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation. {ECO:0000269|PubMed:12172552, ECO:0000269|PubMed:19745154}.
• Pathway: Factors involved in megakaryocyte development and platelet production;Integrin;Hemostasis;Regulation of CDC42 activity (Consensus)

Recessive Scores

• pRec: 0.101

Intolerance Scores

• rvis_EVS: -2.78
• rvis_percentile_EVS: 0.67

Haploinsufficiency Scores

• pHI: 0.355
• hipred: Y
• hipred_score: 0.793
• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.909

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dock9

Gene ontology

• Biological process: small GTPase mediated signal transduction;blood coagulation;biological_process;positive regulation of GTPase activity
• Cellular component: cytosol;endomembrane system;membrane
• Molecular function: guanyl-nucleotide exchange factor activity;protein binding;cadherin binding