Table of Contents

Overview

ACTB 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.1

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene
FL 1 High-confidence FL gene
MZL 1 High-confidence MZL gene
PMBL 1 High-confidence PMBL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 107 0.0983 [0.0806,0.1159]
DLBCL GAMBL with Reddy 2,088 170 0.0814 [0.0697,0.0931]
DLBCL BC 231 13 0.0563 [0.0266,0.086]
DLBCL Dana-Farber 303 36 0.1188 [0.0824,0.1552]
DLBCL NCI 470 46 0.0979 [0.071,0.1247]
DLBCL Reddy 999 63 0.0631 [0.048,0.0781]
DLBCL DLBCL_ICGC 85 12 0.1412 [0.0672,0.2152]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 35 0.0545 [0.037,0.0721]
FL GAMBL with Crouch 1,189 71 0.0597 [0.0462,0.0732]
FL BC 379 18 0.0475 [0.0261,0.0689]
FL Kalmbach 164 13 0.0793 [0.0379,0.1206]
FL Crouch 547 36 0.0658 [0.045,0.0866]
FL FL_ICGC 99 4 0.0404 [0.0016,0.0792]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 4 0.0034 [0,0.0098]
BL GAMBL without ICGC/Zhou 320 12 0.0245 [0.0077,0.0413]
BL GAMBL with Panea 410 12 0.0045 [0,0.0108]
BL BLGSP 219 4 0.0183 [5e-04,0.036]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 8 0.0792 [0.0265,0.1319]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 3.2346 0.0000 1.0000
FL 4.8059 3.1198 0.0036
DLBCL 2.1671 3.8152 0.0000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr7 5568297 5570856 TSS active_promoter

ACTB Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr7 5569176 G>A P38L
chr7 5569024 A>C M44R
chr7 5569018 C>T G46D
chr7 5569006 T>C K50R
chr7 5568978 C>A Q59H
chr7 5568975 G>C S60R
chr7 5568958 G>A T66I
chr7 5568955 A>G L67P
chr7 5568950 A>T Y69N
chr7 5568923 T>C N78D
chr7 5568920 A>C W79G

ACTB 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 2012-03-06 : Lohr : DLBCL 2017-05-01 : Albuquerque : DLBCL 2017-10-10 : Reddy : DLBCL 2018-04-12 : Schmitz : DLBCL 2018-05-01 : Chapuy : DLBCL 2019-12-10 : Wienand : PMBL 2021-05-05 : Hubschmann : DLBCL

References

1.
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
2.
Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3879–3884. PMCID: PMC3309757
3.
Wienand K, Chapuy B, Stewart C, Dunford AJ, Wu D, Kim J, Kamburov A, Wood TR, Cader FZ, Ducar MD, Thorner AR, Nag A, Heubeck AT, Buonopane MJ, Redd RA, Bojarczuk K, Lawton LN, Armand P, Rodig SJ, Fromm JR, Getz G, Shipp MA. Genomic analyses of flow-sorted Hodgkin Reed-Sternberg cells reveal complementary mechanisms of immune evasion. Blood Adv. 2019 Dec 10;3(23):4065–4080. PMCID: PMC6963251

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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