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

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

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]
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

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Expression

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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