MAJIQlopedia

MAJIQlopedia catalogs and quantifies RNA splicing variations across 86 human tissues and 41 cancer types using RNA-Sequencing (RNA-Seq) data.


Key Features:

  • Comprehensive Data Coverage: Includes data from 86 human tissues and 41 cancer types and reports 486,175 annotated and unannotated splicing events in normal tissues and 338,317 events in cancers.
  • Quantification of Junction Usage: Reports quantification of splice junction usage across the included tissue and cancer types derived from RNA-Seq.
  • Case Studies and Novel Discoveries: Documents tissue- or cancer-specific splicing patterns in WT1, MAPT, and BIN1, identifies novel splicing events in FDX1 and MEGF9 in normal tissues, and reports a cancer-specific exon inclusion event in RPS6KA6 present in two cancer types.

Scientific Applications:

  • Splicing landscape analysis: Enables analysis of RNA splicing variation for specific genes and across broader genomic contexts.
  • Tissue- and cancer-specific isoform studies: Supports investigations of tissue- and cancer-specific splice isoform usage.
  • Discovery of disease-associated events: Aids identification of novel splicing events that may inform disease mechanisms and therapeutic targets.

Methodology:

Quantifies alternative splice junctions from RNA-Sequencing (RNA-Seq) data and integrates both annotated and unannotated splicing events.

Topics

Details

Cost:
Free of charge
Tool Type:
web application
Added:
5/6/2024
Last Updated:
11/24/2024

Operations

Publications

Quesnel-Vallières M, Jewell S, Lynch KW, Thomas-Tikhonenko A, Barash Y. MAJIQlopedia: an encyclopedia of RNA splicing variations in human tissues and cancer. Nucleic Acids Research. 2023;52(D1):D213-D221. doi:10.1093/nar/gkad1043. PMID:37953365. PMCID:PMC10767883.

PMID: 37953365
Funding: - Cancer Research Society: 990633 - National Institutes of Health: CA232563, LM013437