Table of Contents

Overview

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.1 Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

Relevance tier by entity

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Warnings

The variants reported in this gene in DLBCL failed QC

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 1.72
DLBCL Schmitz cohort 2.77
DLBCL Reddy cohort 1.60
DLBCL Chapuy cohort 1.71

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.4822 0 1.0000
FL 0.7667 0 1.0000
DLBCL 0.0000 0 0.9986

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Expression

All Mutations

Reddy_2084T Reddy_2088T Reddy_2107T Reddy_2163T Reddy_2208T Reddy_2222T Reddy_2270T Reddy_2291T Reddy_2293T Reddy_2448T Reddy_2471T Reddy_2643T Reddy_2720T Reddy_2805T Reddy_2832T Reddy_2919T Reddy_2948T Reddy_2953T Reddy_2996T Reddy_3386T Reddy_3433T Reddy_3622T Reddy_3628T Reddy_3697T Reddy_3732T Reddy_3837T Reddy_3845T Reddy_3846T Reddy_3942T Reddy_3959T Reddy_3971T Reddy_3999T Reddy_4000T

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-10-10 : Reddy : DLBCL

References

1.
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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