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 |
|---|---|---|
| 1 | High-confidence BL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
BL
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Mutation pattern and selective pressure estimates
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aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr6 | 90981034 | 91016134 | TSS | NA |
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Expression
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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