PRDM1
History
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in BL not firmly established |
 |
1 | high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.31 |
| BL | Thomas cohort | 0.80 |
| BL | Panea cohort | 5.90 |
| DLBCL | GAMBL genomes | 6.88 |
| DLBCL | Schmitz cohort | 10.21 |
| DLBCL | Reddy cohort | 5.41 |
| DLBCL | Chapuy cohort | 8.55 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.746 | 0.000 |
| DLBCL | No | Yes | 4.912 | 23.497 |
| FL | No | No | 0.000 | 0.000 |
[!NOTE] First described in DLBCL in 2013 by Morin RD
## PRDM1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 106536207 | T>A | C58* |
| chr6 | 106536207 | T>G | C58W |
| chr6 | 106536209 | C>T | T59I |
| chr6 | 106536256 | A>T | T75S |
| chr6 | 106536262 | G>T | V77F |
| chr6 | 106536324 | G>A | E97= |
| chr6 | 106536324 | G>C | E97D |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## PRDM1
Expression 
##
References 1. Pasqualucci L, Compagno M, Houldsworth J, Monti S, Grunn
A, Nandula SV, Aster JC, Murty VV, Shipp MA, Dalla-Favera R.
Inactivation of the PRDM1/BLIMP1 gene in diffuse large B cell lymphoma.
J Exp Med. 2006 Feb;203(2):311–317.
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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