Table of Contents

Overview

Mutations in this gene were first described in BL in 2019 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).hunterNFkBSubunitCRel2016?

Relevance tier by entity

Entity Tier Description
BL 1 High-confidence BL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 2 0.0055 [0,0.0138]
BL GAMBL without ICGC/Zhou 320 6 0.0065 [0,0.0152]
BL GAMBL with Panea 410 7 0.0071 [0,0.0152]
BL BLGSP 219 1 0.0046 [0,0.0135]
BL Zhou/ICGC 90 1 0.0111 [0,0.0328]
BL Panea 101 5 0.0495 [0.0072,0.0918]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.8358 0.0000 1.0000
FL 1.4209 5.9043 1.0000
DLBCL 0.6063 0.0000 0.4242

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr6 90981034 91016134 TSS NA

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 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.

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