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]

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 0 0 [0,0]
BL GAMBL without ICGC/Zhou 320 0 0 [0,0]
BL GAMBL with Panea 410 0 0 [0,0]
BL BLGSP 219 0 0 [0,0]
BL Zhou/ICGC 90 0 0 [0,0]
BL Panea 101 0 0 [0,0]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.0000 0.0000 1e+00
FL 16.0911 347.5130 0e+00
DLBCL 17.0860 339.8991 4e-04

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Expression

History

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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

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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