Philadelphia (PA): AACR Cancer Res 2019 79(13 Suppl):Abstract nr 2480. A genetic alteration in the DNA sequence that occurs at the boundary of an exon and an intron (splice site). In: Proceedings of the American Association for Cancer Research Annual Meeting 2019 2019 Mar 29-Apr 3 Atlanta, GA. MutSpliceDB: A database of splice sites mutations effects. Splice site consensus sequences that drive exon recognition are located at the very termini of introns. To facilitate the interpretation of splice site mutation effects, we developed MutSpliceDB: 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.Ĭitation Format: Alida Palmisano, Suleyman Vural, Yingdong Zhao, Dmitriy Sonkin. A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA. 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. A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA. Interpreting the consequences of a specific splice site mutation is not straightforward, especially if the mutation is located outside of the canonical splice sites. Splice site mutations may lead to alterations in mRNA transcripts, causing for example exon(s) inclusion/exclusion or, intron retention. 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 are one of the well-known classes of genetic alterations playing an important role in biology.