RB1
History
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence MCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.78 |
| DLBCL | Schmitz cohort | 3.19 |
| DLBCL | Reddy cohort | 1.60 |
| DLBCL | Chapuy cohort | 3.85 |
| MCL | GAMBL genomes | 0.47 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.029 | 6.855 |
| DLBCL | No | Yes | 0.933 | 17.514 |
| FL | No | No | 1.890 | 0.000 |
[!NOTE] First described in DLBCL in 2013 by Morin RD. First described in MCL in 2014 by Zhang J
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## RB1
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 2. Zhang J, Jima D, Moffitt AB,
Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun
Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The
genomic landscape of mantle cell lymphoma is related to the
epigenetically determined chromatin state of normal B cells. Blood. 2014
May 8;123(19):2988–2996.
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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