Human Gene Module / Chromosome 11 / SRPRA

SRPRASRP receptor subunit alpha

SFARI Gene Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
4 / 0
EAGLE Score
4.75
Limited Learn More
Aliases
SRPRA, DP,  SRPR,  Sralpha
Associated Syndromes
-
Chromosome Band
11q24.2
Associated Disorders
-
Genetic Category
Rare Single Gene Mutation
Relevance to Autism

Two de novo protein-truncating variants and two de novo missense variants predicted to be possibly damaging (defined as 1 MPC 2) were identified in the SRPRA gene in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Iossifov et al., 2014; Satterstrom et al., 2020), while two additional protein-truncating variants in this gene were observed in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified SRPRA as a candidate gene with a false discovery rate (FDR) 0.01.

Molecular Function

The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum.

SFARI Genomic Platforms
Reports related to SRPRA (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
2 Recent recommendation Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
Rare Variants   (4)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1397G>A p.Arg466His missense_variant De novo NA Simplex 25363768 Iossifov I et al. (2014)
c.149A>G p.Tyr50Cys missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.1446del p.Gly483AlafsTer49 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.963_964insCA p.Ile322GlnfsTer26 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

Score Delta: Score remained at 1

1

High Confidence

See all Category 1 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2022
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