Landscape of Somatic Mutations in RNA Splicing Regulatory Elements in Cancer
journal contributionposted on 20.12.2016 by Babita Singh, Eduardo Eyras
Any type of content formally published in an academic journal, usually following a peer-review process.
Alternative Splicing (AS) is a process where same gene template produces different protein isoforms. AS is a crucial process to study in cancer. Several AS changes are linked to hallmarks of cancer. AS profiles are useful to categorize patients for therapeutic purposes and targeted treatments.
Several regulatory regions on the gene regulates AS process. RNA binding proteins (RBP) bind to these sites and result into exclusion or inclusion of exons. In cancer these components are mainly affected due to differential expression of RBPs (trans) and mutations on the binding sites of RBP motifs (cis).
In this analysis we study cis component of alternative splicing in cancer i.e. mutations on regulatory regions that could potentially result to differential splicing. We are using whole genome sequencing data obtained from The Cancer Genome Atlas (TCGA) for 13 different cancer types using ~17million mutations.