Human Gene Module / Chromosome 11 / SRPRA

SRPRASRP receptor subunit alpha

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

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.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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