Aliases: NET2, SFRS11, dJ677H15.2, p54
Chromosome No: 1
Chromosome Band: 1p31.1
Genetic Category: Rare single gene variant
ASD Reports: 6
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
A de novo loss-of-function (LoF) variant in the SRSF11 gene was first identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a multiplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), SRSF11 was determined to be an ASD candidate gene in Yuen et al., 2017.
Molecular Function
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.
External Links
