Evidence map›Paper›PMID 37953365›Full record

ArticleNucleic acids research2024

MAJIQlopedia: an encyclopedia of RNA splicing variations in human tissues and cancer.

Mathieu Quesnel-Vallières, San Jewell, Kristen W Lynch, Andrei Thomas-Tikhonenko, Yoseph Barash

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 17 citations in OpenAlex.

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  8. HNRNPH1-mediated splicing events regulatebioRxiv : the preprint server for biology · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Mathieu Quesnel-VallièresDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0001-9945-8123
San JewellDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Kristen W LynchDepartment of Biochemistry and Biophysics, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-0120-8079
Andrei Thomas-TikhonenkoDivision of Cancer Pathobiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-2739-2206
Yoseph BarashDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
University of Pennsylvania · USChildren's Hospital of Philadelphia · US

Funding

Signal-Induced Regulation of Alternative RNA ProcessingR35GM118048 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI KRISTEN W LYNCH · 2016 to 2026
$6.6M
Cassette exons in neoplastic pro-B-cells: implications for immunotherapyU01CA232563 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI BARASH, YOSEPH, THOMAS-TIKHONENKO, ANDREI · 2018 to 2022
$3.5M
Methods for improving clinical diagnostic by detection, prediction, interpretation and prioritization of aberrant transcriptome variationsR01LM013437 · NLM · UNIVERSITY OF PENNSYLVANIA · PI BARASH, YOSEPH · 2020 to 2023
$1.4M
NCI NIH HHS U01 CA232563NIGMS NIH HHS R35 GM118048NIH HHS CA232563NLM NIH HHS R01 LM013437
6 · The paper itself

Abstract

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.

Indexed as

Alternative SplicingNeoplasmsRNA SplicingHumansProtein IsoformsRNA Splice SitesSequence Analysis, RNAProtein IsoformsRNA Splice Sites

Identifiers

PMID37953365
PMCPMC10767883
OpenAlexW4388615949

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.