[PAX5]
Mutation tier
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 2 | relevance in DLBCL not firmly established |
Mutation incidence
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.63 |
| DLBCL | Schmitz cohort | 3.20 |
| DLBCL | Reddy cohort | 1.90 |
| DLBCL | Chapuy cohort | 3.40 |
Mutation pattern
| 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
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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