Table of Contents

Overview

ACTG1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas. Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.1 The function of mutations in ACTB and ACTG1 have not yet been determined.2

Relevance tier by entity

Cannot include /table1_ACTG1 - does not exist yet

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 60 0.0551 [0.0415,0.0686]
DLBCL GAMBL with Reddy 2,088 107 0.0512 [0.0418,0.0607]
DLBCL BC 231 11 0.0476 [0.0202,0.0751]
DLBCL Dana-Farber 303 9 0.0297 [0.0106,0.0488]
DLBCL NCI 470 35 0.0745 [0.0507,0.0982]
DLBCL Reddy 999 47 0.0470 [0.0339,0.0602]
DLBCL DLBCL_ICGC 85 5 0.0588 [0.0088,0.1088]
pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 19 0.0296 [0.0165,0.0427]
FL GAMBL with Crouch 1,189 56 0.0471 [0.0351,0.0591]
FL BC 379 7 0.0185 [0.0049,0.032]
FL Kalmbach 164 8 0.0488 [0.0158,0.0817]
FL Crouch 547 37 0.0676 [0.0466,0.0887]
FL FL_ICGC 99 4 0.0404 [0.0016,0.0792]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.1880 4.5902 1.0000
FL 1.8559 3.7333 1.0000
DLBCL 1.1013 0.1556 0.0391

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr17 79478289 79479959 intron NA

Cannot include /browser_ACTG1.md - does not exist yet

Expression

Cannot include /mermaid_ACTG1.md - does not exist yet

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
2.
Witjes L, Van Troys M, Verhasselt B, Ampe C. Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures. Int J Mol Sci. 2020 Apr 27;21(9):3093. PMCID: PMC7247664
3.
Desch AK, Hartung K, Botzen A, Brobeil A, Rummel M, Kurch L, Georgi T, Jox T, Bielack S, Burdach S, Classen CF, Claviez A, Debatin KM, Ebinger M, Eggert A, Faber J, Flotho C, Frühwald M, Graf N, Jorch N, Kontny U, Kramm C, Kulozik A, Kühr J, Sykora KW, Metzler M, Müller HL, Nathrath M, Nüßlein T, Paulussen M, Pekrun A, Reinhardt D, Reinhard H, Rössig C, Sauerbrey A, Schlegel PG, Schneider DT, Scheurlen W, Schweigerer L, Simon T, Suttorp M, Vorwerk P, Schmitz R, Kluge R, Mauz-Körholz C, Körholz D, Gattenlöhner S, Bräuninger A. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma. Leukemia. 2020 Jan;34(1):151–166.
4.
Spina V, Khiabanian H, Messina M, Monti S, Cascione L, Bruscaggin A, Spaccarotella E, Holmes AB, Arcaini L, Lucioni M, Tabbò F, Zairis S, Diop F, Cerri M, Chiaretti S, Marasca R, Ponzoni M, Deaglio S, Ramponi A, Tiacci E, Pasqualucci L, Paulli M, Falini B, Inghirami G, Bertoni F, Foà R, Rabadan R, Gaidano G, Rossi D. The genetics of nodal marginal zone lymphoma. Blood. 2016 Sep 8;128(10):1362–1373. PMCID: PMC5016706

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.