CELF4

Chr 18

CUGBP Elav-like family member 4

Also known as: BRUNOL4, CELF-4

NCBI Gene: 56853 ENSG00000101489 UniProt: Q9BZC1 OMIM: 612679

This protein regulates pre-mRNA alternative splicing and may also be involved in mRNA editing and translation through its three RNA recognition motif domains. Loss-of-function mutations in CELF4 cause neurodevelopmental disorders with an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variants, indicating that haploinsufficiency is the likely pathogenic mechanism.

OMIM ResearchSummary from RefSeq, UniProt, Mechanism

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.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

0.23

LOEUF· LoF intol.

LOF

Mechanism· G2P