BTBD3

History

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
	2	relevance in DLBCL not firmly established

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Mutation pattern and selective pressure estimates

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

BTBD3 Expression

Representative Mutations

All Mutations

Reddy_2193T Reddy_2219T Reddy_2240T Reddy_2475T Reddy_2603T Reddy_2698T Reddy_2838T Reddy_2950T Reddy_3387T Reddy_3479T Reddy_3548T Reddy_3566T Reddy_3594T Reddy_3706T Reddy_3708T Reddy_3759T Reddy_3916T Reddy_3918T Reddy_759T

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.