This gene is involved in both MAPK cascade regulation and histone modification, and it interacts in the described PPI network with genes previously reported in association with autism, such as COPS3, RBX1, and PSMD11. Deletions in the 2q37.3 region have been previously reported in affected individuals with autism43 and other NDDs44,45 but COPS8 had never been associated as a critical gene for this region. This evidence concerns the gene COPS8 and autism.