Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways

Abstract

Mutual exclusivity analysis of genomic mutations has proven useful for detecting driver alterations in cancer patient cohorts.Here we demonstrate, for the first time, that this pattern is also present among de novo mutations in autism spectrum disorder. We analyzed three large whole genome sequencing studies and identified mutual exclusivity patterns within the most confident set of autism-related genes, as well as in the circadian clock and PI3K/AKT signaling pathways.

Pathway Commons: 2019 Update

“…Mutex uses signaling relations in PC to reduce its search space to the gene groups with a common downstream target (56) . A derivative of Mutex detected which pathways are targeted by functional mutations in autism spectrum disorder de novo mutations (57) . The Enrichment Map pathway enrichment analysis workflow incorporates all PC pathways represented as gene sets (30) .…”