About ExonSkipAD

Exon skipping (ES), the most common alternative splicing event, has been reported to contribute to diverse human diseases due to the loss of functional domains/sites or frameshifting of the open reading frame (ORF) and noticed as therapeutic targets. Accumulating transcriptomic studies of aging brains show the splicing disruption is a widespread hallmark of Alzheimer's disease (AD). To date, systematic and intensive annotations of ES events based on the functional impacts of skipped exon units in AD are not available. Here, we built ExonSkipAD, the ES annotation database aiming to provide a resource and reference for functional annotation of ES events in AD and identify therapeutic targets in individual exon units. We have 16,413 genes that have ~156K, ~ 69K, ~ 231K ES events from ROSMAP, MSBB, and Mayo, respectively. For all the ES events, we performed multiple functional annotations including ES-inducing SNP and methylation studies, ORF annotation, functional feature retention in ES loci AD, and miRNA binding site changes, etc. ExonSkipAD will be a unique resource for AD research communities to advance developing therapeutic targets for AD.