MAJIQlopedia:ãn encyclopedia of RNA splicing vãr iations in human tissuesãnd cancer

Abstract

Quantification of RNA splicing variations based on RNA-Sequencing can re v eal tissue-ãnd disease-specific splicing patterns. To study such splic- ing vãriations, w e introduce MAJIQlopedia,ãn ency clopedia of splicing vãriations that encompasses 86 human tissuesãnd 41 cancer datasets. MAJIQlopedia reportsãnnotatedãnd unannotated splicing e v ents f orã total of 486 175ãlternativ e splice junctions in normal tissuesãnd 338 317ãlternative splice junctions in cancer. This database,ãvailableãt https:// majiq.biociphers.org/ majiqlopedia/ , includesã user-friendly interface that provides graphical representations of junction usage quantification for each junctionãcrossãll tissue or cancer types. To demonstrate case usage of MAJIQlopedia, w e re vie w splicing vãriations in genes WT1 , MAPTãnd BIN1 , whichãll ha v e kno wn tissue or cancer-specific splicing variations. Weãlso use MAJIQlopedia to highlight no v el splicing variations in FDX1ãnd MEGF9 in normal tissues,ãnd we uncoverã novel exon inclusion e v ent in RPS6KA6 that only occurs in two cancer types. Users can download the database, request theãddition of data to the webtool, or installã MAJIQlopedia server to integrate proprietãry datã. MAJIQlopedia can serveãsã reference database for researchers seeking to understand what splicing variations exist in genes of interest,ãnd those looking to understand tissue- or cancer-specific splice isoform usage.