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.

中文翻译：

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使用 NEASE 丰富选择性剪接事件的功能揭示了对组织身份和疾病的见解

选择性剪接（AS）是基因调控的一个重要方面。然而，它在分子过程和病理生物学中的作用尚不清楚。一个障碍是缺乏对 AS 集事件进行功能分析的工具。为了缓解这一问题，我们开发了 NEASE，这是一种将途径与蛋白质-蛋白质相互作用的结构注释相结合的工具，以在功能上表征 AS 事件。我们在四个应用案例中展示了 NEASE 如何识别有助于组织身份和细胞类型发育的途径，以及它如何突出显示剪接相关的生物标志物。凭借对 AS 的独特见解，NEASE 产生了独特且有意义的生物学见解，与经典途径分析相辅相成。