Aliases: BM-011, MRT70, SFRS21, SRrp53
Chromosome No: 3
Chromosome Band: 3q25.32
Genetic Category: Syndromic-Genetic association-Genetic association/Functional
ASD Reports: 7
Recent Reports: 1
Annotated variants: 13
Associated CNVs: 9
Evidence score: null
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Relevance to Autism
Homozygous variants in the RSRC1 gene are responsible for a form of autosomal recessive intellectual disability [autosomal recessive intellectual developmental disorder-70 (MRT70); OMIM 618402); behavioral abnormalities including ASD or ADHD are frequently observed in affected individuals (Perez et al., 2018; Scala et al., 2020). Cross-trait meta-analysis of genome-wide studies on schizophrenia, bipolar disorder, autism spectrum disorder, ADHD, and depression identified an intronic variant in the RSRC1 gene (rs1589526) that reached genome-wide association with ASD following MTAG analysis (P-value 1.62E-08) (Wu et al., 2020); SNPs in the RSRC1 gene have previously been shown to reach genome-wide significance for association with depression (Wray et al., 2018; Li et al., 2018; Howard et al., 2019).
Molecular Function
This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing.
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