PPP1R9Bprotein phosphatase 1 regulatory subunit 9B
Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants3 / 0
AliasesPPP1R9B, PPP1R6, PPP1R9, SPINO, Spn
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Three de novo missense variants, including two that were predicted to be damaging (defined as MPC 2), were identified in the PPP1R9B gene in ASD probands from the Autism Sequencing Consortium (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 PPP1R9B as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).
This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system.
Reports related to PPP1R9B (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism||Satterstrom FK et al. (2020)||Yes||-|
Rare Variants (3)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.1800G>A||p.Arg600=||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
|c.2107T>G||p.Trp703Gly||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
|c.2254G>A||p.Ala752Thr||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
No common variants reported.