WASH6P

WASP family homolog 6, pseudogene, the group of Wiskott-Aldrich Syndrome protein family|Pseudoautosomal region 2

Basic information

Region (hg38): Y:57207346-57212230

Previous symbols: [ "FAM39A", "CXYorf1" ]

Links

ENSG00000292372 ∙ NCBI:653440 ∙ ∙ HGNC:31685 ∙ Uniprot:Q9NQA3 ∙ 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 WASH6P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WASH6P gene is commonly pathogenic or not. These statistics are base on transcript: . 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						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. {ECO:0000250|UniProtKB:A8K0Z3, ECO:0000250|UniProtKB:C4AMC7}.

Haploinsufficiency Scores

• ghis: 0.472

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.0835

Gene ontology

• Biological process: biological_process;endosomal transport;Arp2/3 complex-mediated actin nucleation;retrograde transport, endosome to Golgi
• Cellular component: early endosome;cytosol;early endosome membrane;recycling endosome;recycling endosome membrane;WASH complex
• Molecular function: molecular_function;actin binding;alpha-tubulin binding