RB1 - morinlab/LLMPP GitHub Wiki


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

RB1

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2013-08-15 : Morin : DLBCL
      2014-05-08 : Zhang : MCL
2017-10-10 : Reddy : DLBCL
2018-10-01 : Arthur : DLBCL

Relevance tier by entity

Entity Tier Description
DLBCL 1 high-confidence DLBCL gene[@morinMutationalStructuralAnalysis2013; @reddyGeneticFunctionalDrivers2017; @arthurGenomewideDiscoverySomatic2018]
MCL 1 high-confidence MCL gene [@zhangGenomicLandscapeMantle2014]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 4.78
DLBCL Schmitz cohort 3.19
DLBCL Reddy cohort 1.60
DLBCL Chapuy cohort 3.85
MCL GAMBL genomes 0.47

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 1.029 6.855
DLBCL No Yes 0.933 17.514
FL No No 1.890 0.000

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

RB1 Expression

References