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 |
|---|---|---|
 |
1 | High-confidence DLBCL gene |
 |
1 | High-confidence FL gene |
 |
1 | High-confidence MZL gene |
 |
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 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
History
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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
