DOK5

docking protein 5, the group of Pleckstrin homology domain containing

Basic information

Region (hg38): 20:54475593-54651169

Previous symbols: [ "C20orf180" ]

Links

ENSG00000101134 ∙ NCBI:55816 ∙ OMIM:608334 ∙ HGNC:16173 ∙ Uniprot:Q9P104 ∙ 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 DOK5 gene.

• not_specified (41 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOK5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018431.5. 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						0
missense			40	1		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOK5	protein_coding	protein_coding	ENST00000262593	8	175575

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000226	0.982	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.917	151	186	0.811	0.0000112	2004
Missense in Polyphen		41	56.128	0.73047		591
Synonymous	0.903	59	68.5	0.861	0.00000424	565
Loss of Function	2.10	9	18.8	0.478	9.97e-7	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000155	0.0000936
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.0000710	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
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. DOK5 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway. Putative link with downstream effectors of RET in neuronal differentiation.
• Pathway: Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Developmental Biology;BDNF;Signaling events regulated by Ret tyrosine kinase;RET signaling;Axon guidance (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.325
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.44

Haploinsufficiency Scores

• pHI: 0.487
• hipred: Y
• hipred_score: 0.750
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.956

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dok5

Gene ontology

• Biological process: transmembrane receptor protein tyrosine kinase signaling pathway;axon guidance;positive regulation of MAPK cascade;regulation of neurotrophin TRK receptor signaling pathway
• Cellular component: cytosol