CXCR4 - morinlab/LLMPP GitHub Wiki
CXCR4 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. The mutation pattern in DLBCL implies the preferential accumulation of inactivating mutations.
Mutations in this gene were first described in DLBCL in 2012 by Khodabakhshi et al,1 in FL in 2021 by Hübschmann et al2 and in BL in 2019 by Panea et al.3
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timeline
title Publication timing
2012-11-12 : Khodabakhshi : DLBCL
2017-01-26 : Krysiak : FL
2017-10-10 : Reddy : DLBCL
2018-05-01 : Chapuy : DLBCL
2019-09-26 : Panea : BL
2021-05-05 : Hubschmann : DLBCL
Entity | Tier | Description |
---|---|---|
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1 | high-confidence MZL gene |
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1 | aSHM target and high-confidence DLBCL gene [@khodabakhshiRecurrentTargetsAberrant2012] |
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2 | aSHM target; Although recurrent, the relevance of mutations in FL is tenuous [@krysiakRecurrentSomaticMutations2017b] |
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2 | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019] |
Entity | source | frequency (%) |
---|---|---|
BL | GAMBL genomes+capture | 2.08 |
BL | Thomas cohort | 2.10 |
BL | Panea cohort | 2.00 |
DLBCL | GAMBL genomes | 2.87 |
DLBCL | Schmitz cohort | 2.55 |
DLBCL | Reddy cohort | 1.50 |
DLBCL | Chapuy cohort | 2.56 |
FL | GAMBL genomes | 3.46 |
Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
---|---|---|---|---|
BL | Yes | No | 4.603 | 0.000 |
DLBCL | Yes | No | 3.731 | 18.727 |
FL | Yes | No | 0.000 | 0.000 |
chr_name | hg19_start | hg19_end | region | regulatory_comment |
---|---|---|---|---|
chr2 | 136874728 | 136875461 | intron | weak_promoter |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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