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 Retired, Failed QC1

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 1.15
DLBCL Schmitz cohort 2.34
DLBCL Reddy cohort 1.30
DLBCL Chapuy cohort 1.28

Mutation pattern and selective pressure estimates

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Expression

All Mutations

Reddy_2085T Reddy_2124T Reddy_2125T Reddy_2133T Reddy_2162T Reddy_2209T Reddy_2215T Reddy_2236T Reddy_2242T Reddy_2467T Reddy_2468T Reddy_2565T Reddy_2606T Reddy_2611T Reddy_2766T Reddy_2772T Reddy_2829T Reddy_2919T Reddy_2921T Reddy_2999T Reddy_3409T Reddy_3432T Reddy_3479T Reddy_3536T Reddy_3548T Reddy_3607T Reddy_3635T Reddy_3646T Reddy_3679T Reddy_3688T Reddy_3825T Reddy_3915T Reddy_3919T Reddy_3920T Reddy_3974T Reddy_3978T Reddy_3981T Reddy_3987T Reddy_705T

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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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