SRSF11

Chr 1

serine and arginine rich splicing factor 11

Also known as: NET2, SFRS11, dJ677H15.2, p54

NCBI Gene: 9295 ENSG00000116754 UniProt: Q05519 OMIM: 602010

This protein may function in pre-mRNA splicing and is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.233). No established disease associations have been reported for mutations in this gene.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternative splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.[provided by RefSeq, Sep 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

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· predicted