P2RX5
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 | 1.15 |
| DLBCL | Schmitz cohort | 1.70 |
| DLBCL | Reddy cohort | 1.60 |
| DLBCL | Chapuy cohort | 0.85 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 2.368 | 12.182 |
| DLBCL | Yes | No | 4.647 | 21.997 |
| FL | Yes | No | 0.000 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr17 | 3597616 | 3599572 | TSS | active_promoter |
[!NOTE] First described in DLBCL in 2013 by Morin RD
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## P2RX5
Expression 
## References 1.
Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW,
Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL,
Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J,
Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S,
Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD,
Marra MA. Mutational and structural analysis of diffuse large B-cell
lymphoma using whole-genome sequencing. Blood. 2013 Aug
15;122(7):1256–1265. PMCID: PMC3744992
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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