“Le Grand et Le Petit”: Splicing Factors SF3B1 and SUGP1 and Their Cancer Mutations Leading to Aberrant Acceptor Usage

At the September NCI Cancer Research Data Commons (CRDC) Cancer Genomics Cloud (CGC) webinar, senior scientist Dr. Tatiana Popova will share how her team used CGC tools to discover new mutations in the splicing factor SUGP1.

In their recent study, Popova’s team investigated mutations in splicing factors (such as SF3B1) commonly present in lung adenocarcinoma and other malignant tumors. Using CGC’s Sequence Bloom Tree (SBT) structure for fast and sensitive screening, they explored SF3B1-like aberration patterns in all the samples present in The Cancer Genome Atlas (TCGA). Through that analysis, they found that some mutations in the smaller SUGP1 factor acted like a mutation in the larger SF3B1 factor. By understanding its mutations, we can learn more about SUGP1's role in both the RNA splicing process and cancer.

As one of the three Cloud Resources within the NCI CRDC, the Seven Bridges’ CGC provides researchers access to a wide variety of data sets, a catalog of tools to analyze and visualize the data directly from the browser, and scalable computational resources to perform large scale analysis on the cloud.