Aliases: FACT, FACT80, T160
Chromosome No: 11
Chromosome Band: 11q12.1
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 2
Evidence score: 2
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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
