AP2S1adaptor related protein complex 2 subunit sigma 1
Autism Reports / Total Reports2 / 2
Rare Variants / Common Variants2 / 0
AliasesAP2S1, AP17, CLAPS2, FBH3, FBHOk, HHC3
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Two de novo missense variants that were predicted to be probably damaging (defined as MPC 2) were identified in the AP2S1 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 AP2S1 as a candidate gene with a false discovery rate (FDR) 0.01.
One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex.
Reports related to AP2S1 (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 (2)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.191G>A||p.Gly64Asp||missense_variant||De novo||NA||Simplex||25363768||Iossifov I et al. (2014)|
|c.76C>T||p.Arg26Trp||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
No common variants reported.