PIK3R1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @paneaWholeGenomeLandscape2019, @reddyGeneticFunctionalDrivers2017, @zhangGeneticHeterogeneityDiffuse2013,
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_PIK3R1.md
Warnings
<<Warn("The variants reported in this gene in BL failed QC")>>
See below or the study page for more information
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 3.00 |
| BL | Thomas cohort | 2.50 |
| BL | Panea cohort | 4.00 |
| DLBCL | GAMBL genomes | 1.91 |
| DLBCL | Schmitz cohort | 2.13 |
| DLBCL | Reddy cohort | 2.00 |
| DLBCL | Chapuy cohort | 4.70 |
Mutation pattern and selective pressure estimates
include:tables/browser_PIK3R1.md
Expression
Representative Mutations
DLBCL[@zhangGeneticHeterogeneityDiffuse2013]
Rating
★ ★ ★ ☆ ☆
BL[@paneaWholeGenomeLandscape2019]
Rating
★ ☆ ☆ ☆ ☆
Rating
★ ☆ ☆ ☆ ☆
include:tables/mermaid_PIK3R1.md