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)
DLBCL
Cannot include /DLBCL_ACTG1.md - does not exist yet
FL
Cannot include /FL_ACTG1.md - does not exist yet
Mutation pattern and selective pressure estimates
Cannot include /dnds_ACTG1.md - does not exist yet
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