Table of Contents

Experimental Evidence

Driver mutations affecting this gene in FL have been experimentally demonstrated to cause a reduction or loss of function (LOF).wangFollicularLymphomaassociatedMutations2022?

Relevance tier by entity

Entity Tier Description
FL 1 High-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 21 0.0327 [0.019,0.0465]
FL GAMBL with Crouch 1,189 21 0.0177 [0.0102,0.0251]
FL BC 379 16 0.0422 [0.022,0.0625]
FL Kalmbach 164 1 0.0061 [0,0.018]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 4 0.0404 [0.0016,0.0792]

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 7 0.0064 [0.0017,0.0112]
DLBCL GAMBL with Reddy 2,088 8 0.0038 [0.0012,0.0065]
DLBCL BC 231 2 0.0087 [0,0.0206]
DLBCL Dana-Farber 303 1 0.0033 [0,0.0098]
DLBCL NCI 470 4 0.0085 [2e-04,0.0168]
DLBCL Reddy 999 1 0.0010 [0,0.003]
DLBCL DLBCL_ICGC 85 0 0.0012 [0,0.0085]

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Mutation pattern and selective pressure estimates

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Expression

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References

1.
Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491

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