CXCR4
Overview
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.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
| FL | 2-a | aSHM target; Although recurrent, the relevance of mutations in FL is tenuous |
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| 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 |
Mutation pattern and selective pressure estimates
| 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 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr2 | 136874728 | 136875461 | intron | weak_promoter |
[!NOTE] First described in BL in 2019 by Panea RI. First described in DLBCL in 2012 by Khodabakhshi AH. First described in FL in 2021 by Hübschmann D
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## CXCR4
Expression 
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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