DOK3

docking protein 3

Basic information

Region (hg38): 5:177501903-177511274

Links

ENSG00000146094 ∙ NCBI:79930 ∙ OMIM:611435 ∙ HGNC:24583 ∙ Uniprot:Q7L591 ∙ 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 DOK3 gene.

• Inborn genetic diseases (42 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOK3 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						0
missense			34	2		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5	1		6
Total	0	0	39	3	0

Variants in DOK3

This is a list of pathogenic ClinVar variants found in the DOK3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-177503116-G-A		not specified	Uncertain significance (Jul 20, 2021)
5-177503139-T-C		not specified	Uncertain significance (Jul 13, 2021)
5-177503990-C-G		not specified	Uncertain significance (Dec 14, 2023)
5-177503992-G-C		not specified	Uncertain significance (Nov 30, 2022)
5-177503999-G-C		not specified	Uncertain significance (May 04, 2022)
5-177504023-C-T		not specified	Uncertain significance (Aug 02, 2023)
5-177504026-C-T		not specified	Uncertain significance (Nov 20, 2023)
5-177504051-T-C		not specified	Uncertain significance (Nov 21, 2023)
5-177504138-C-T		not specified	Uncertain significance (Jul 12, 2023)
5-177504146-G-A		not specified	Uncertain significance (Jun 24, 2022)
5-177504171-C-T		not specified	Likely benign (Sep 14, 2023)
5-177504218-T-G		not specified	Uncertain significance (Oct 05, 2023)
5-177504248-G-A		not specified	Uncertain significance (May 03, 2023)
5-177504303-G-T		not specified	Uncertain significance (Dec 17, 2021)
5-177504314-C-T		not specified	Uncertain significance (Jul 06, 2021)
5-177504339-C-T		not specified	Uncertain significance (May 23, 2023)
5-177504344-G-A		not specified	Uncertain significance (Nov 21, 2022)
5-177504350-T-G		not specified	Uncertain significance (Feb 10, 2022)
5-177504351-C-A		not specified	Uncertain significance (Apr 25, 2023)
5-177504353-T-C		not specified	Likely benign (Nov 10, 2022)
5-177504377-G-A		not specified	Uncertain significance (Oct 12, 2021)
5-177504422-G-A		not specified	Uncertain significance (Dec 13, 2022)
5-177504536-C-T		not specified	Uncertain significance (Jan 03, 2024)
5-177504537-G-A		not specified	Uncertain significance (Feb 15, 2023)
5-177504650-G-A		not specified	Uncertain significance (Jun 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOK3	protein_coding	protein_coding	ENST00000357198	6	9368

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000905	0.987	125390	4	351	125745	0.00141

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.364	292	310	0.942	0.0000209	3047
Missense in Polyphen		96	110.91	0.86559		1096
Synonymous	0.283	136	140	0.970	0.00000961	1108
Loss of Function	2.20	8	18.1	0.441	9.74e-7	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0183	0.0180
Ashkenazi Jewish	0.000573	0.000496
East Asian	0.00	0.00
Finnish	0.000291	0.000277
European (Non-Finnish)	0.000353	0.000325
Middle Eastern	0.00	0.00
South Asian	0.000293	0.000261
Other	0.000345	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK3 is a negative regulator of JNK signaling in B-cells through interaction with INPP5D/SHIP1. May modulate ABL1 function (By similarity). {ECO:0000250}.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.0980

Intolerance Scores

• loftool: 0.658
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.2

Haploinsufficiency Scores

• pHI: 0.164
• hipred: N
• hipred_score: 0.372
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.281

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dok3
• 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); hematopoietic system phenotype; immune system phenotype; respiratory system phenotype; neoplasm

Gene ontology

• Biological process: Ras protein signal transduction;neutrophil degranulation
• Cellular component: plasma membrane;secretory granule membrane;ficolin-1-rich granule membrane
• Molecular function: protein binding