Table of Contents

Overview

TMSB4X is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene
FL 1 High-confidence FL gene
PMBL 2 Role of TMSB4X mutations in PMBL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 196 0.1800 [0.1572,0.2028]
DLBCL GAMBL with Reddy 2,088 327 0.1566 [0.141,0.1722]
DLBCL BC 231 30 0.1299 [0.0865,0.1732]
DLBCL Dana-Farber 303 50 0.1650 [0.1232,0.2068]
DLBCL NCI 470 98 0.2085 [0.1718,0.2452]
DLBCL Reddy 999 131 0.1311 [0.1102,0.1521]
DLBCL DLBCL_ICGC 85 18 0.2118 [0.1249,0.2986]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 23 0.0358 [0.0214,0.0502]
FL GAMBL with Crouch 1,189 25 0.0210 [0.0129,0.0292]
FL BC 379 13 0.0343 [0.016,0.0526]
FL Kalmbach 164 6 0.0366 [0.0079,0.0653]
FL Crouch 547 2 0.0037 [0,0.0087]
FL FL_ICGC 99 4 0.0404 [0.0016,0.0792]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.0000 0.0000 1
FL 46.2649 434.3265 0
DLBCL 4.4225 21.5376 0

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chrX 12993308 12994511 intron active_promoter

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 2013-01-01 : Zhang : DLBCL 2017-05-01 : Albuquerque : DLBCL 2017-10-10 : Reddy : DLBCL 2018-04-12 : Schmitz : DLBCL 2018-05-01 : Chapuy : DLBCL

References

1.
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
2.
Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proceedings of the National Academy of Sciences of the United States of America. 2013;110:1398–1403. PMCID: PMC3557051

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.