SETD2 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reddyGeneticFunctionalDrivers2017, @zhangGeneticHeterogeneityDiffuse2013,

TOC

Overview

Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.

Relevance tier by entity

include:tables/table1_SETD2.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 3.63
DLBCL Schmitz cohort 6.38
DLBCL Reddy cohort 4.60
DLBCL Chapuy cohort 0.43

Mutation pattern and selective pressure estimates

include:tables/dnds_SETD2.md

include:tables/browser_SETD2.md

Expression

include:tables/mermaid_SETD2.md

References