PIK3R1 - morinlab/LLMPP GitHub Wiki
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.
<<Warn("The variants reported in this gene in BL failed QC")>>
See below or the study page for more information
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timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
2019-09-26 : Panea : BL
Entity | Tier | Description |
---|---|---|
3 | Retired, Failed QC[@paneaWholeGenomeLandscape2019] | |
2 | relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013] |
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 |
Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
---|---|---|---|---|
BL | No | No | 3.917 | 0.000 |
DLBCL | No | No | 2.158 | 16.154 |
FL | No | No | 0.000 | 14.389 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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