ACTG1

ACTG1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas. The function of mutations in ACTB and ACTG1 have not yet been determined.witjesPrevalenceCytoplasmicActin2020b?

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

Relevance tier by entity

Entity Tier Description
PMBL 2 relevance in PMBL/cHL/GZL not firmly established1
MZL 2 relevance in MZL not firmly establishedspinaGeneticsNodalMarginal2016b?
FL 2 relevance in FL not firmly establishedhubschmannMutationalMechanismsShaping2021b?
DLBCL 1 aSHM target and high-confidence DLBCL genehubschmannMutationalMechanismsShaping2021b?

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 5.35
DLBCL Schmitz cohort 7.45
DLBCL Reddy cohort 4.70
DLBCL Chapuy cohort 2.99
FL GAMBL genomes 3.00

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 2.063 8.011
DLBCL Yes No 2.125 0.000
FL Yes No 8.128 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr17 79478289 79479959 intron NA

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ACTG1 Expression

References

1.
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.

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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