Relevance tier by entity

Entity Tier Description
BL 1 High-confidence BL gene
DLBCL 2 Role of TCL1A mutations in DLBCL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 31 0.0285 [0.0186,0.0383]
DLBCL GAMBL with Reddy 2,088 59 0.0283 [0.0211,0.0354]
DLBCL BC 231 4 0.0173 [5e-04,0.0341]
DLBCL Dana-Farber 303 8 0.0264 [0.0083,0.0445]
DLBCL NCI 470 18 0.0383 [0.0209,0.0556]
DLBCL Reddy 999 28 0.0280 [0.0178,0.0383]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 13 0.0038 [0,0.0105]
BL GAMBL without ICGC/Zhou 320 17 0.0514 [0.0272,0.0756]
BL GAMBL with Panea 410 17 0.0049 [0,0.0115]
BL BLGSP 219 13 0.0594 [0.0281,0.0907]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 4 0.0396 [0.0016,0.0776]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 8.5288 30.6395 0.0012
FL 7.4018 26.7852 0.0006
DLBCL 1.5506 5.8808 0.0000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr14 96179535 96180366 TSS 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 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