Functional enrichment of alternative splicing events with NEASE reveals insights into tissue identity and diseases

Alternative splicing (AS) is an important aspect of gene regulation. Nevertheless, its role in molecular processes and pathobiology is far from understood. A roadblock is that tools for the functional analysis of AS-set events are lacking. To mitigate this, we developed NEASE, a tool integrating pathways with structural annotations of protein-protein interactions to functionally characterize AS events. We show in four application cases how NEASE can identify pathways contributing to tissue identity and cell type development, and how it highlights splicing-related biomarkers. With a unique view on AS, NEASE generates unique and meaningful biological insights complementary to classical pathways analysis.

Automated summary

Alternative splicing (AS) is a key aspect of gene regulation, and the tool NEASE has been developed to functionally characterize AS events by integrating pathways and protein-protein interaction annotations. NEASE has shown in four application cases its ability to identify pathways related to tissue identity and cell type development, as well as highlight splicing-related biomarkers, providing unique biological insights complementary to traditional pathways analysis.