In a subsequent reanalysis, the mutation rate in this gene was found to be inflated in the original results

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 2 relevance in DLBCL not firmly established1

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.68
DLBCL Schmitz cohort 3.40
DLBCL Reddy cohort 3.30
DLBCL Chapuy cohort 2.99

Mutation pattern and selective pressure estimates

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Expression

Representative Mutations

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All Mutations

Reddy_2088T Reddy_2128T Reddy_2133T Reddy_2141T Reddy_2161T Reddy_2198T Reddy_2219T Reddy_2250T Reddy_2261T Reddy_2262T Reddy_2263T Reddy_2286T Reddy_2544T Reddy_2632T Reddy_2642T Reddy_2654T Reddy_2767T Reddy_2779T Reddy_2790T Reddy_2792T Reddy_2805T Reddy_2808T Reddy_2831T Reddy_2834T Reddy_2838T Reddy_2882T Reddy_2903T Reddy_2912T Reddy_2951T Reddy_3422T Reddy_3432T Reddy_3453T Reddy_3456T Reddy_3461T Reddy_3539T Reddy_3566T Reddy_3611T Reddy_3628T Reddy_3640T Reddy_3644T Reddy_3675T Reddy_3731T Reddy_3733T Reddy_3763T Reddy_3770T Reddy_3856T Reddy_3889T Reddy_3914T Reddy_3937T Reddy_3988T Reddy_3989T Reddy_695T

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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