Table of Contents

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 4.89
DLBCL Reddy cohort 2.80
DLBCL Chapuy cohort 3.85

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 0.459 0.000
DLBCL No No 1.146 3.261
FL No No 0.000 0.000

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ATR Expression

Representative Mutations

Rating ★ ★ ★ ★ ★

Rating ★ ★ ☆ ☆ ☆

All Mutations

Reddy_2121T Reddy_2150T Reddy_2163T Reddy_2192T Reddy_2195T Reddy_2206T Reddy_2236T Reddy_2475T Reddy_2476T Reddy_2585T Reddy_2594T Reddy_2758T Reddy_2768T Reddy_2775T Reddy_2779T Reddy_2805T Reddy_2828T Reddy_2838T Reddy_2898T Reddy_2933T Reddy_2947T Reddy_3384T Reddy_3385T Reddy_3405T Reddy_3489T Reddy_3502T Reddy_3520T Reddy_3548T Reddy_3549T Reddy_3557T Reddy_3561T Reddy_3562T Reddy_3594T Reddy_3622T Reddy_3653T Reddy_3662T Reddy_3779T Reddy_3810T Reddy_3812T Reddy_3820T Reddy_3822T Reddy_3843T Reddy_3856T Reddy_3879T Reddy_3992T 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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