POT1
History
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| MCL | GAMBL genomes | 3.32 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.889 | 0.000 |
| DLBCL | No | No | 4.286 | 0.000 |
| FL | No | No | 0.000 | 18.704 |
[!NOTE] 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
## POT1
Expression 
## References 1. 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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