DeNovoWest analysis of an integrated cohort of over 40,000 ASD cases across unpublished and published global cohort in Tan et al., 2026 identified PPP1R10 as an ASD risk gene with a false discovery rate of <0.05; among the ASD-associated variants used in this analysis were seven de novo missense variants identified in probands from the Autism Sequencing Consortium and the SPARK cohort. Additional ASD-associated de novo variants in PPP1R10 that were not included in the Tan et al., 2026 analysis include a de novo loss-of-function variant identified in a Simons Simplex Collection proband in Wilfert et al., 2021 and a de novo missense variant in a MSSNG proband in Zhou et al., 2022.
Molecular Function
This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.
