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.

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Metadaten
Author:Zakaria Louadi, Maria L. Elkjaer, Melissa Klug, Chit Tong Lio, Amit Fenn, Zsolt Illes, Dario BongiovanniORCiDGND, Jan Baumbach, Tim Kacprowski, Markus List, Olga Tsoy
URN:urn:nbn:de:bvb:384-opus4-1222612
Frontdoor URLhttps://opus.bibliothek.uni-augsburg.de/opus4/122261
ISSN:1474-760XOPAC
Parent Title (English):Genome Biology
Publisher:Springer Science and Business Media LLC
Type:Article
Language:English
Year of first Publication:2021
Publishing Institution:Universität Augsburg
Release Date:2025/05/27
Volume:22
Issue:1
First Page:327
DOI:https://doi.org/10.1186/s13059-021-02538-1
Institutes:Medizinische Fakultät
Medizinische Fakultät / Universitätsklinikum
Medizinische Fakultät / Professur für Klinische und translationale Forschung in der Kardiologie
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):CC-BY 4.0: Creative Commons: Namensnennung (mit Print on Demand)