SRSF1

Chr 17

serine and arginine rich splicing factor 1

Also known as: ASF, NEDFBA, SF2, SF2p33, SFRS1, SRp30a

NCBI Gene: 6426 ENSG00000136450 UniProt: Q07955

The protein is an arginine/serine-rich splicing factor that prevents exon skipping and regulates alternative splicing by forming bridges between splice site components and binding to purine-rich RNA sequences. Mutations cause autosomal dominant intellectual disability with seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating mutations are likely to have significant clinical consequences.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

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

105

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)