CHST2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reddyGeneticFunctionalDrivers2017,
Overview
Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.[@reddyGeneticFunctionalDrivers2017] Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.
Relevance tier by entity
include:tables/table1_CHST2.md
Warnings
<<Warn("The variants reported in this gene in DLBCL failed QC")>>
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.34 |
| DLBCL | Schmitz cohort | 2.34 |
| DLBCL | Reddy cohort | 0.70 |
| DLBCL | Chapuy cohort | 0.43 |
Mutation pattern and selective pressure estimates
include:tables/browser_CHST2.md
Expression
All Mutations
Reddy_2073T Reddy_2091T Reddy_2163T Reddy_2204T Reddy_2217T Reddy_2302T Reddy_2459T Reddy_2561T Reddy_2652T Reddy_2687T Reddy_2781T Reddy_2901T Reddy_2912T Reddy_2918T Reddy_2933T Reddy_2953T Reddy_3394T Reddy_3404T Reddy_3467T Reddy_3496T Reddy_3511T Reddy_3632T Reddy_3656T Reddy_3660T Reddy_3672T Reddy_3712T Reddy_3734T Reddy_3736T Reddy_3760T Reddy_3815T Reddy_3834T Reddy_3917T Reddy_3998T
include:tables/mermaid_CHST2.md