BIRC3 - morinlab/LLMPP GitHub Wiki


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

BIRC3

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2011-11-03 : Rossi : MZL
      2013-11-05 : Be : MCL
      2018-10-01 : Arthur : DLBCL
      2021-07-15 : Duns : PMBL

Relevance tier by entity

Entity Tier Description
PMBL 2 relevance in PMBL/cHL/GZL not firmly established[@dunsCharacterizationDLBCLPMBL2021b]
MZL 1 high-confidence MZL gene[@rossiAlterationBIRC3Multiple2011a]
DLBCL 2-a aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous [@arthurGenomewideDiscoverySomatic2018]
MCL 1-a aSHM target and high-confidence MCL gene [@beaLandscapeSomaticMutations2013]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 1.53
DLBCL Schmitz cohort 1.91
DLBCL Reddy cohort 1.30
DLBCL Chapuy cohort 1.71
MCL GAMBL genomes 7.11

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 0.000 0
DLBCL Yes No 1.404 0
FL Yes No 2.427 0

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr11 102188170 102190077 TSS active_promoter

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

BIRC3 Expression

References