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

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene
FL 2 Role of ACTG1 mutations in FL requires confirmation
MZL 2 Role of ACTG1 mutations in MZL requires confirmation
PMBL 2 Role of ACTG1 mutations in PMBL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

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]

FL

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
Structure with HotMAPS hotspots
Structure with HotMAPS hotspots

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2016-09-08 : Spina : MZL 2019-08-20 : Desch : PMBL 2021-05-05 : Hübschmann : DLBCL

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.

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