CDC73 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @loveGeneticLandscapeMutations2012, @reddyGeneticFunctionalDrivers2017,
Overview
Mutations in this gene were first described in BL in 2012 by Love et al[@loveGeneticLandscapeMutations2012] and subsequently in DLBCL by Reddy et al.[@reddyGeneticFunctionalDrivers2017] Subsequent exome and genome-wide studies of DLBCL and BL did not reproduce these observations.
Relevance tier by entity
include:tables/table1_CDC73.md
Warnings
<<Warn("The variants reported in this gene in DLBCL failed QC")>>
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.54 |
| BL | Thomas cohort | NA |
| BL | Panea cohort | NA |
| DLBCL | GAMBL genomes | 0.57 |
| DLBCL | Schmitz cohort | 0.64 |
| DLBCL | Reddy cohort | 0.70 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
include:tables/browser_CDC73.md
Expression
Representative Mutations
BL
Rating
★ ★ ★ ☆ ☆
DLBCL
Rating
★ ☆ ☆ ☆ ☆
All Mutations
BL
include:tables/mermaid_CDC73.md