ACTB
Overview
ACTB is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas.
History
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene |
 |
1 | high-confidence PMBL/cHL/GZL gene |
 |
1-a | high-confidence DLBCL gene, hypermutated |
 |
1-a | high-confidence FL gene, hypermutated |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 9.18 |
| DLBCL | Schmitz cohort | 9.80 |
| DLBCL | Reddy cohort | 6.30 |
| DLBCL | Chapuy cohort | 12.40 |
| FL | GAMBL genomes | 5.31 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 5.217 | 0 |
| DLBCL | Yes | No | 3.582 | 0 |
| FL | Yes | No | 10.476 | 0 |
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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
ACTB Expression
References
- 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):3879-84. doi: 10.1073/pnas.1121343109. Epub 2012 Feb 17. PMID: 22343534; PMCID: PMC3309757.
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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