WDFY4
Chr 10WDFY family member 4
Also known as: C10orf64
The WDFY4 protein regulates cross-presentation of viral and tumor antigens in dendritic cells and plays a role in B-cell survival through autophagy regulation. Mutations cause autosomal recessive primary immunodeficiency with susceptibility to viral infections and potential tumor predisposition. The gene is highly constrained against loss-of-function variants (LOEUF 0.304), suggesting that complete protein loss is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 155 | 1 | 0 | 156 |
Likely Benign | 0 | 12 | 0 | 3 | 15 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 167 | 1 | 3 | 171 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDFY4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools