DOK1

docking protein 1

Basic information

Region (hg38): 2:74549026-74557551

Links

ENSG00000115325 ∙ NCBI:1796 ∙ OMIM:602919 ∙ HGNC:2990 ∙ Uniprot:Q99704 ∙ 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 DOK1 gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOK1 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			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	1		69	54	2	126
Total	1	0	91	54	2

Variants in DOK1

This is a list of pathogenic ClinVar variants found in the DOK1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-74549350-G-T			Likely benign (Nov 04, 2023)
2-74549370-T-A			Uncertain significance (Jun 10, 2022)
2-74549374-G-A			Likely benign (Nov 14, 2021)
2-74549377-G-A		LOXL3-related disorder	Likely benign (Jun 09, 2023)
2-74549381-G-A			Uncertain significance (Jul 18, 2022)
2-74549384-T-C			Uncertain significance (Aug 15, 2022)
2-74549391-T-C		not specified	Uncertain significance (Oct 20, 2023)
2-74549403-G-A		LOXL3-related disorder	Uncertain significance (Nov 29, 2023)
2-74549427-C-T			Uncertain significance (Dec 29, 2021)
2-74549464-TTGCGAC-T			Uncertain significance (Nov 03, 2022)
2-74549466-GC-G		Myopia 28, autosomal recessive	Pathogenic (Mar 07, 2022)
2-74549467-C-A			Likely benign (May 17, 2023)
2-74549467-C-G			Likely benign (Oct 07, 2022)
2-74549468-G-T			Uncertain significance (Jul 19, 2022)
2-74549473-G-A			Uncertain significance (Aug 23, 2021)
2-74549475-C-T			Uncertain significance (Mar 10, 2022)
2-74549482-A-G		LOXL3-related disorder	Likely benign (Dec 20, 2023)
2-74549498-A-G			Uncertain significance (Nov 26, 2021)
2-74549500-C-A			Likely benign (Aug 21, 2022)
2-74549500-C-T			Likely benign (Sep 03, 2022)
2-74549502-C-T			Uncertain significance (Sep 07, 2021)
2-74549506-C-T			Likely benign (Nov 10, 2023)
2-74549512-G-A			Likely benign (Mar 14, 2022)
2-74549513-G-A			Uncertain significance (May 22, 2022)
2-74549514-G-T		not specified	Uncertain significance (Aug 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOK1	protein_coding	protein_coding	ENST00000233668	5	8529

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0290	0.969	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0926	278	282	0.984	0.0000161	3073
Missense in Polyphen		71	78.692	0.90225		866
Synonymous	-0.0126	122	122	1.00	0.00000683	1039
Loss of Function	2.71	6	18.6	0.322	8.17e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000279	0.000275
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000981	0.0000980
Other	0.00	0.00

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. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3. {ECO:0000269|PubMed:18156175}.
• Pathway: Measles - Homo sapiens (human);Kit receptor signaling pathway;VEGFA-VEGFR2 Signaling Pathway;Developmental Biology;Signaling by PTK6;Signal Transduction;TCR;Ghrelin;KitReceptor;PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1;BCR;IL1;EGFR1;BCR signaling pathway;Signaling by Non-Receptor Tyrosine Kinases;Signaling events regulated by Ret tyrosine kinase;IL3;RET signaling;Axon guidance;TNFalpha;Insulin Pathway;Fc-epsilon receptor I signaling in mast cells;Signaling events mediated by Stem cell factor receptor (c-Kit);PDGFR-beta signaling pathway;Signaling events mediated by PTP1B (Consensus)

Recessive Scores

• pRec: 0.224

Intolerance Scores

• loftool: 0.529
• rvis_EVS: -0.69
• rvis_percentile_EVS: 15.12

Haploinsufficiency Scores

• pHI: 0.436
• hipred: Y
• hipred_score: 0.553
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.987

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dok1
• Phenotype: respiratory system phenotype; neoplasm; hematopoietic system 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); homeostasis/metabolism phenotype; immune system phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: signal transduction;cell surface receptor signaling pathway;transmembrane receptor protein tyrosine kinase signaling pathway;Ras protein signal transduction;axon guidance;macrophage colony-stimulating factor signaling pathway;positive regulation of epidermal growth factor receptor signaling pathway
• Cellular component: nucleus;cytosol;perinuclear region of cytoplasm
• Molecular function: protein binding