CD83 - morinlab/LLMPP GitHub Wiki


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CD83

Overview

CD83 is a transmembrane protein that plays a role in the immune system, particularly in the maturation and function of dendritic cells, T cells, and B cells with a role in regulating immune responses and maintaining immune tolerance. CD83 mutations in B-cell lymphomas have not been as extensively studied as mutations in some other genes. CD83 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. No notable hot spots have been described in this gene in the context of the cancers listed below.

History

Mutations in this gene were first described in DLBCL in 2013 by Morin et al2, in BL in 2019 by Panea et al3 and in FL in 2023 by Russler-Germain et al.4

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2013-08-15 : Morin : DLBCL
      2017-10-10 : Reddy : DLBCL
      2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
      2019-09-26 : Panea : BL
2021-05-05 : Hubschmann : DLBCL
      2021-07-15 : Duns : PMBL
      2023-07-26 : Russler-Germain : FL
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Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021b]
DLBCL 1-a aSHM target and high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013; @schmitzGeneticsPathogenesisDiffuse2018a; @reddyGeneticFunctionalDrivers2017]
FL 1-a aSHM target and high-confidence FL gene [@russler-germainMutationsAssociatedProgression2023b]
BL 2-a aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 4.40
DLBCL Schmitz cohort 5.74
DLBCL Reddy cohort 5.81
DLBCL Chapuy cohort 7.26
FL GAMBL genomes 1.85
BL GAMBL genomes+capture 1.15
BL Thomas cohort 1.70
BL Panea cohort NA

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 4.396 0.000
DLBCL Yes No 4.794 14.227
FL Yes No 0.000 25.732

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr6 14118026 14120025 TSS active_promoter-strong_enhancer

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

CD83 Expression

Representative Mutations

BL

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References

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