Splice site mutations are one of the well-known classes of genetic alterations playing an important role in biology. Splice site mutations in cancer are most frequently observed as inactivating alterations in tumor suppressor genes (for example, TP53 or RB1) and to a lesser degree as activating alterations in oncogenes (for example MET). Splice site mutations may lead to alterations in mRNA transcripts, causing for example exon(s) inclusion/exclusion or, intron retention. Interpreting the consequences of a specific splice site mutation is not straightforward, especially if the mutation is located outside of the canonical splice sites. Accurate interpretation of the impact a splice site mutation has can further our understanding of biology, influence patient treatment, and in case of germline splice site mutations, may also have relevance to familial disease predisposition. To facilitate the interpretation of splice site mutation effects, we developed MutSpliceDB: https://brb.nci.nih.gov/splicing a public resource of splice sites mutations effects, documenting mutation effect(s) on splicing based on manually reviewed RNA-seq BAM files from sample(s) with particular splice site mutations.

Citation Format: Alida Palmisano, Suleyman Vural, Yingdong Zhao, Dmitriy Sonkin. MutSpliceDB: A database of splice sites mutations effects [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 2480.