PAX5
History
| Entity | Tier | Description |
|---|---|---|
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.63 |
| DLBCL | Schmitz cohort | 3.19 |
| DLBCL | Reddy cohort | 1.90 |
| DLBCL | Chapuy cohort | 3.42 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 6.750 | 0 |
| DLBCL | Yes | Yes | 14.089 | 0 |
| FL | Yes | No | 10.963 | 0 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr9 | 37023396 | 37027663 | intron-1 | intron |
| chr9 | 37029849 | 37037154 | TSS-1 | active_promoter |
| chr9 | 37369209 | 37372160 | distal-enhancer-1 | enhancer |
| chr9 | 37382267 | 37385854 | distal-enhancer-2 | enhancer |
| chr9 | 37395932 | 37409239 | distal-enhancer-3 | enhancer |
[!NOTE] First described in DLBCL in 2001 by Pasqualucci L
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## PAX5
Expression 
##
References 1. Pasqualucci L, Neumeister P, Goossens T, Nanjangud G,
Chaganti RS, Küppers R, Dalla-Favera R. Hypermutation of multiple
proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature. 2001 Jul
19;412(6844):341–346. PMID: 11460166
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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