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

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

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FL

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Mutation pattern and selective pressure estimates

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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

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Expression

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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

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