Table of Contents

Overview

Mutations in BL were first described by Grande et al.1

Experimental Evidence

Driver mutations affecting this gene in BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).toncUnexpectedSuppressionTumorigenesis2021?

Relevance tier by entity

Cannot include /table1_TFAP4.md - does not exist yet

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 12 0.0110 [0.0048,0.0172]
DLBCL GAMBL with Reddy 2,088 16 0.0077 [0.0039,0.0114]
DLBCL BC 231 0 0.0004 [0,0.0031]
DLBCL Dana-Farber 303 5 0.0165 [0.0022,0.0308]
DLBCL NCI 470 7 0.0149 [0.0039,0.0258]
DLBCL Reddy 999 4 0.0040 [1e-04,0.0079]
DLBCL DLBCL_ICGC 85 0 0.0012 [0,0.0085]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 33 0.1056 [0.0713,0.1398]
BL GAMBL without ICGC/Zhou 320 35 0.1090 [0.0748,0.1431]
BL GAMBL with Panea 410 43 0.1039 [0.0744,0.1334]
BL BLGSP 219 25 0.1142 [0.072,0.1563]
BL Zhou/ICGC 90 8 0.0889 [0.0301,0.1477]
BL Panea 101 10 0.0990 [0.0408,0.1573]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 38.8559 111.7943 0.0000
FL 0.7840 0.0000 1.0000
DLBCL 1.4614 1.8893 0.9986

Cannot include /browser_TFAP4.md - does not exist yet

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2019-03-21 : Grande : BL

References

1.
Grande BM, Gerhard DS, Jiang A, Griner NB, Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K, Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA, Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL, He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE, Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG, Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J, Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH, Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood. 2019;133(12):1313–1324. PMCID: PMC6428665

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.