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).1

Relevance tier by entity

Cannot include /table1_ATP6V1B2.md - does not exist yet

Mutation incidence in large patient cohorts (GAMBL reanalysis)

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 37 0.0576 [0.0396,0.0757]
FL GAMBL with Crouch 1,189 37 0.0311 [0.0212,0.041]
FL BC 379 25 0.0660 [0.041,0.091]
FL Kalmbach 164 5 0.0305 [0.0042,0.0568]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 7 0.0707 [0.0202,0.1212]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 4.6571 0 1.0000
FL 38.2300 0 0.0000
DLBCL 1.6286 0 0.5021

ATP6V1B2 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr8 20074768 G>A R400Q

Cannot include /browser_ATP6V1B2.md - does not exist yet

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2016-02-02 : Okosun : FL

References

1.
Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
2.
Okosun J, Wolfson RL, Wang J, Araf S, Wilkins L, Castellano BM, Escudero-Ibarz L, Al Seraihi AF, Richter J, Bernhart SH, Efeyan A, Iqbal S, Matthews J, Clear A, Guerra-Assunção JA, Bödör C, Quentmeier H, Mansbridge C, Johnson P, Davies A, Strefford JC, Packham G, Barrans S, Jack A, Du MQ, Calaminici M, Lister TA, Auer R, Montoto S, Gribben JG, Siebert R, Chelala C, Zoncu R, Sabatini DM, Fitzgibbon J. Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. Nat Genet. 2016 Feb;48(2):183–188. PMCID: PMC4731318

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.

Disclaimer

The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

You are free to:

Share — copy and redistribute the material in any medium or format for any purpose, even commercially.

Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.