PIK3R1 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

PIK3R1

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

History

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timeline
    title Publication timing
      2013-01-01 : Zhang : DLBCL
      2019-09-26 : Panea : BL
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Relevance tier by entity

Entity Tier Description
BL 3 Retired, Failed QC[@paneaWholeGenomeLandscape2019]
DLBCL 2 relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013]

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

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

PIK3R1 Expression

Representative Mutations

DLBCL1

Rating ★ ★ ★ ☆ ☆

BL2

Rating ★ ☆ ☆ ☆ ☆

Rating ★ ☆ ☆ ☆ ☆

References

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