基于 RNA 测序的 RNA 剪接变异的量化可以揭示组织和疾病特异性剪接模式。为了研究此类剪接变异，我们引入了 MAJIQlopedia，这是一本剪接变异百科全书，包含 86 个人体组织和 41 个癌症数据集。 MAJIQlopedia 报告了正常组织中总共 486 175 个选择性剪​​接点和癌症中 338 317 个选择性剪​​接点的注释和未注释剪接事件。该数据库可从 https://majiq.biociphers.org/majiqlopedia/ 获取，包括一个用户友好的界面，提供所有组织或癌症类型中每个连接点的连接使用量化的图形表示。为了证明 MAJIQlopedia 的案例使用，我们回顾了基因 WT1、MAPT 和 BIN1 的剪接变异，这些基因都具有已知的组织或癌症特异性剪接变异。我们还使用 MAJIQlopedia 来强调正常组织中 FDX1 和 MEGF9 的新剪接变异，并且我们发现了 RPS6KA6 中仅发生在两种癌症类型中的新外显子包含事件。用户可以下载数据库、请求向网络工具添加数据，或安装 MAJIQlopedia 服务器来集成专有数据。 MAJIQlopedia 可以作为研究人员的参考数据库，帮助他们了解感兴趣的基因中存在哪些剪接变异，以及了解组织或癌症特异性剪接亚型的使用。© 作者 2023。由牛津大学出版社出版代表核酸研究。

Quantification of RNA splicing variations based on RNA-Sequencing can reveal tissue- and disease-specific splicing patterns. To study such splicing variations, we introduce MAJIQlopedia, an encyclopedia of splicing variations that encompasses 86 human tissues and 41 cancer datasets. MAJIQlopedia reports annotated and unannotated splicing events for a total of 486 175 alternative splice junctions in normal tissues and 338 317 alternative splice junctions in cancer. This database, available at https://majiq.biociphers.org/majiqlopedia/, includes a user-friendly interface that provides graphical representations of junction usage quantification for each junction across all tissue or cancer types. To demonstrate case usage of MAJIQlopedia, we review splicing variations in genes WT1, MAPT and BIN1, which all have known tissue or cancer-specific splicing variations. We also use MAJIQlopedia to highlight novel splicing variations in FDX1 and MEGF9 in normal tissues, and we uncover a novel exon inclusion event in RPS6KA6 that only occurs in two cancer types. Users can download the database, request the addition of data to the webtool, or install a MAJIQlopedia server to integrate proprietary data. MAJIQlopedia can serve as a reference database for researchers seeking to understand what splicing variations exist in genes of interest, and those looking to understand tissue- or cancer-specific splice isoform usage.© The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research.