BTBD3 - morinlab/LLMPP GitHub Wiki


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

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_BTBD3.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 0.57
DLBCL Schmitz cohort 1.91
DLBCL Reddy cohort 1.80
DLBCL Chapuy cohort 0.85

Mutation pattern and selective pressure estimates

include:tables/dnds_BTBD3.md

include:tables/browser_BTBD3.md

Expression

Representative Mutations

Rating ★ ★ ☆ ☆ ☆

All Mutations

Reddy_2193T Reddy_2219T Reddy_2240T Reddy_2475T Reddy_2603T Reddy_2698T Reddy_2838T Reddy_2950T Reddy_3387T Reddy_3479T Reddy_3548T Reddy_3566T Reddy_3594T Reddy_3706T Reddy_3708T Reddy_3759T Reddy_3916T Reddy_3918T Reddy_759T

include:tables/mermaid_BTBD3.md

References