About ExonSkipDB

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 frame shifting of open reading frame (ORF) and noticed as therapeutic targets. To date, systematic and intensive annotations of ES events based on the functional impacts of skipped exon units in cancer and normal tissues are not available. Here, we built ExonSkipDB, the ES annotation database available aiming to provide a resource and reference for functional annotation of ES events in cancer to identify therapeutically targetable genes in individual exon units. We collected 14 272 genes that have 90 616 and 89 845 ES events across 33 cancer types and 31 normal tissues from The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx). For the ES events from TCGA, we performed multiple functional annotations. These include ORF assignment of exon skipped transcript, studies of lost protein functional features due to ES events, and studies of exon skipping events associated with mutations and methylations based on multi-omics evidence. ExonSkipDB will be a unique resource for cancer and drug research communities to identify therapeutically targetable exon skipping events.