Table of Contents

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1

Relevance tier by entity

Entity Tier Description
BL 2 Role of TET2 mutations in BL requires confirmation
DLBCL 1 High-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 84 0.0771 [0.0613,0.093]
DLBCL GAMBL with Reddy 2,088 158 0.0757 [0.0643,0.087]
DLBCL BC 231 10 0.0433 [0.017,0.0695]
DLBCL Dana-Farber 303 15 0.0495 [0.0251,0.0739]
DLBCL NCI 470 55 0.1170 [0.088,0.1461]
DLBCL Reddy 999 74 0.0741 [0.0578,0.0903]
DLBCL DLBCL_ICGC 85 4 0.0471 [0.002,0.0921]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 11 0.0037 [0,0.0104]
BL GAMBL without ICGC/Zhou 320 23 0.0621 [0.0358,0.0884]
BL GAMBL with Panea 410 23 0.0050 [0,0.0117]
BL BLGSP 219 11 0.0502 [0.0213,0.0792]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 12 0.1188 [0.0557,0.1819]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.2211 20.9597 4e-04
FL 0.9529 1.5490 1e+00
DLBCL 1.5440 16.2910 0e+00

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-05-01 : Albuquerque : DLBCL 2017-10-10 : Reddy : DLBCL 2018-04-12 : Schmitz : DLBCL 2021-05-05 : Hubschmann : DLBCL

References

1.
Asmar F, Punj V, Christensen J, Pedersen MT, Pedersen A, Nielsen AB, Hother C, Ralfkiaer U, Brown P, Ralfkiaer E, Helin K, Grønbæk K. Genome-wide profiling identifies a DNA methylation signature that associates with TET2 mutations in diffuse large B-cell lymphoma. Haematologica. 2013 Dec;98(12):1912–1920. PMCID: PMC3856967
2.
Albuquerque MA, Grande BM, Ritch EJ, Pararajalingam P, Jessa S, Krzywinski M, Grewal JK, Shah SP, Boutros PC, Morin RD. Enhancing knowledge discovery from cancer genomics data with Galaxy. Gigascience. 2017 May 1;6(5):1–13. PMCID: PMC5437943

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.

Disclaimer

The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

You are free to:

Share — copy and redistribute the material in any medium or format for any purpose, even commercially.

Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.