WBP4
Chr 13ARWW domain binding protein 4
Also known as: FBP21, NEDHFDB
The protein functions as a component of the spliceosome involved in pre-mRNA splicing and may facilitate cross-intron bridging of U1 and U2 snRNPs in the spliceosomal A complex. Mutations cause a neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities with autosomal recessive inheritance. The gene shows extreme intolerance to loss-of-function variants (pLI near zero), indicating it is highly constrained in the population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
37 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 33 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 2 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 1 |
| Total | — | 37 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WBP4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools