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Relevance to Autism

A de novo missense variant in the SSRP1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014; this variant was subsequently reported as predicted to be damaging in Sanders et al., 2015, and it was further reported to be a postzygotic mosaic mutation (with an allele fraction of 37%) in Lim et al., 2017. A de novo mosaic nonsense variant in this gene (with an allele fraction of 9%) was identified in an ASD proband from the Simons Simplex Collection in Krupp et al., 2017.

Molecular Function

The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Recent Recommendation
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN977R001 
 missense_variant 
 c.947G>C 
 p.Arg316Pro 
 De novo 
  
 Simplex 
 GEN977R002 
 stop_gained 
 c.159G>A 
 p.Trp53Ter 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 11
 
11
Duplication
 5
 

No Animal Model Data Available

 

No Interactions Available
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