Table of Contents

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

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Mutation pattern and selective pressure estimates

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SETD1B Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr12 122242755 C>A P38T
chr12 122243045 G>A E66K
chr12 122243058 A>G D70G
chr12 122243060 C>T P71S
chr12 122265950 G>A A1858T
chr12 122265953 C>T R1859C

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Expression

All Mutations

Reddy_2079T Reddy_2101T Reddy_2103T Reddy_2120T Reddy_2145T Reddy_2146T Reddy_2152T Reddy_2159T Reddy_2203T Reddy_2259T Reddy_2270T Reddy_2461T Reddy_2479T Reddy_2488T Reddy_2522T Reddy_2550T Reddy_2554T Reddy_2613T Reddy_2634T Reddy_2684T Reddy_2698T Reddy_2707T Reddy_2788T Reddy_2790T Reddy_2792T Reddy_2830T Reddy_2834T Reddy_2840T Reddy_2871T Reddy_2921T Reddy_2922T Reddy_2931T Reddy_2933T Reddy_2955T Reddy_3385T Reddy_3423T Reddy_3455T Reddy_3461T Reddy_3462T Reddy_3529T Reddy_3532T Reddy_3545T Reddy_3582T Reddy_3607T Reddy_3609T Reddy_3610T Reddy_3613T Reddy_3620T Reddy_3627T Reddy_3631T Reddy_3647T Reddy_3665T Reddy_3675T Reddy_3682T Reddy_3701T Reddy_3716T Reddy_3724T Reddy_3732T Reddy_3740T Reddy_3742T Reddy_3756T Reddy_3781T Reddy_3837T Reddy_3852T Reddy_3867T Reddy_3893T Reddy_3905T Reddy_3916T Reddy_3930T Reddy_3932T Reddy_3980T Reddy_3990T Reddy_3998T Reddy_790T

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References

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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
3.
Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183

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