CD83 - morinlab/LLMPP GitHub Wiki
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.
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
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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
Entity | Tier | Description |
---|---|---|
1 | high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021b] | |
1-a | aSHM target and high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013; @schmitzGeneticsPathogenesisDiffuse2018a; @reddyGeneticFunctionalDrivers2017] | |
1-a | aSHM target and high-confidence FL gene [@russler-germainMutationsAssociatedProgression2023b] | |
2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019] |
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 |
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 |
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
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