WBP4

Chr 13

WW domain binding protein 4

ENSG00000120688 UniProt: O75554

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.

ResearchSummary from RefSeq, OMIM, UniProt

Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:19592703, PubMed:28781166, PubMed:9724750). May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex (PubMed:9724750)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (3)

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