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

Entity Tier Description
DLBCL 3 Mutations are unlikely to be relevant to DLBCL

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 1.34
DLBCL Schmitz cohort 2.34
DLBCL Reddy cohort 0.70
DLBCL Chapuy cohort 0.43

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.6556 0 1.0000
FL 1.2574 0 1.0000
DLBCL 0.0000 0 0.9986

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Expression

All Mutations

Reddy_2073T Reddy_2091T Reddy_2163T Reddy_2204T Reddy_2217T Reddy_2302T Reddy_2459T Reddy_2561T Reddy_2652T Reddy_2687T Reddy_2781T Reddy_2901T Reddy_2912T Reddy_2918T Reddy_2933T Reddy_2953T Reddy_3394T Reddy_3404T Reddy_3467T Reddy_3496T Reddy_3511T Reddy_3632T Reddy_3656T Reddy_3660T Reddy_3672T Reddy_3712T Reddy_3734T Reddy_3736T Reddy_3760T Reddy_3815T Reddy_3834T Reddy_3917T Reddy_3998T

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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