SRPRASRP receptor subunit alpha
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
6 / 0Chromosome Band
11q24.2Associated Disorders
-Genetic Category
Rare Single Gene MutationRelevance 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.
External Links
SFARI Genomic Platforms
Reports related to SRPRA (3 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 | - |
| 3 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (6)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.645G>A | p.Glu215%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.1679T>C | p.Val560Ala | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.1397G>A | p.Arg466His | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.149A>G | p.Tyr50Cys | missense_variant | De novo | - | Simplex | 31981491 | Satterstrom FK et al. (2020) | |
| c.1446del | p.Gly483AlafsTer49 | frameshift_variant | De novo | - | Simplex | 31981491 | Satterstrom FK et al. (2020) | |
| c.963_964insCA | p.Ile322GlnfsTer26 | frameshift_variant | De novo | - | Simplex | 31981491 | Satterstrom FK et al. (2020) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence
Score Delta: Score remained at 1
criteria met
See SFARI Gene'scoring criteriaWe 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
