Table of Contents

Relevance tier by entity

Entity Tier Description
BL 1 High-confidence BL gene
PMBL 2 Role of CHD8 mutations in PMBL requires confirmation

Warnings

The variants reported in this gene in DLBCL failed QC

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 60 0.0287 [0.0216,0.0359]
DLBCL BC 231 3 0.0130 [0,0.0276]
DLBCL Dana-Farber 303 10 0.0330 [0.0129,0.0531]
DLBCL NCI 470 17 0.0362 [0.0193,0.0531]
DLBCL Reddy 999 29 0.0290 [0.0186,0.0394]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 16 0.0281 [0.0099,0.0462]
BL GAMBL without ICGC/Zhou 320 32 0.0858 [0.0554,0.1162]
BL GAMBL with Panea 410 33 0.0363 [0.0186,0.0539]
BL BLGSP 219 15 0.0685 [0.035,0.1019]
BL Zhou/ICGC 90 1 0.0111 [0,0.0328]
BL Panea 101 17 0.1683 [0.0953,0.2413]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 3.1254 12.1511 0.0308
FL 0.8934 2.4707 1.0000
DLBCL 1.0877 1.0934 0.9986

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

All Mutations

Reddy_2087T Reddy_2142T Reddy_2162T Reddy_2194T Reddy_2199T Reddy_2293T Reddy_2450T Reddy_2453T Reddy_2455T Reddy_2534T Reddy_2603T Reddy_2635T Reddy_2664T Reddy_2680T Reddy_2709T Reddy_2713T Reddy_2779T Reddy_2794T Reddy_2805T Reddy_2892T Reddy_2922T Reddy_2934T Reddy_3412T Reddy_3423T Reddy_3430T Reddy_3447T Reddy_3450T Reddy_3485T Reddy_3497T Reddy_3547T Reddy_3548T Reddy_3592T Reddy_3600T Reddy_3625T Reddy_3628T Reddy_3653T Reddy_3655T Reddy_3660T Reddy_3663T Reddy_3666T Reddy_3669T Reddy_3675T Reddy_3730T Reddy_3742T Reddy_3743T Reddy_3775T Reddy_3776T Reddy_3786T Reddy_3831T Reddy_3883T Reddy_3906T Reddy_3923T Reddy_3932T Reddy_3942T Reddy_3957T Reddy_3967T Reddy_3973T Reddy_3976T Reddy_3991T Reddy_3992T Reddy_830T

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-10-10 : Reddy : DLBCL 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
2.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481–494.e15. PMCID: PMC5659841

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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