EP300
Overview
Mutations in EP300 are significant contributors to the pathogenesis and progression of B-cell lymphomas such as DLBCL and FL. These mutations impair histone acetylation, disrupt epigenetic gene regulation. This gene has some recurrent sites of mutations (hot spots), which typically impact its HAT domain, a region crucial for acetylating histones and non-histone proteins.1,2 Studies using genome-wide CRISPR-Cas9 screens have identified synthetic lethal interactions between CREBBP and EP300, suggesting that targeting one may affect the viability of cells with mutations in the other.3
History
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL generossiCodingGenomeSplenic2012c? |
 |
1 | high-confidence DLBCL genepasqualucciInactivatingMutationsAcetyltransferase2011a? |
 |
1 | high-confidence FL genepasqualucciInactivatingMutationsAcetyltransferase2011a? |
|
|2|relevance in BL
not firmly established| ## Mutation incidence in large patient cohorts
(GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 4.62 |
| BL | Thomas cohort | 4.20 |
| BL | Panea cohort | 7.90 |
| DLBCL | GAMBL genomes | 11.85 |
| DLBCL | Schmitz cohort | 9.79 |
| DLBCL | Reddy cohort | 7.11 |
| DLBCL | Chapuy cohort | 8.12 |
| FL | GAMBL genomes | 12.47 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 2.769 | 3.550 |
| DLBCL | No | No | 3.344 | 7.980 |
| FL | No | Yes | 15.586 | 7.719 |
EP300 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr22 | 41566459 | T>C | Y1446H |
| chr22 | 41566460 | A>G | Y1446C |
| chr22 | 41566460 | A>C | Y1446S |
| chr22 | 41566462 | A>T | I1447F |
| chr22 | 41566466 | T>G | F1448C |
| chr22 | 41566474 | C>T | H1451Y |
| chr22 | 41566476 | T>G | H1451Q |
| chr22 | 41566478 | C>T | P1452L |
| chr22 | 41566486 | C>G | Q1455E |
| chr22 | 41566487 | A>G | Q1455R |
| chr22 | 41566488 | G>T | Q1455H |
| chr22 | 41566495 | C>T | P1458S |
| chr22 | 41566495 | C>A | P1458T |
| chr22 | 41566496 | C>T | P1458L |
| chr22 | 41566511 | T>C | L1463P |
| chr22 | 41566511 | T>G | L1463R |
| chr22 | 41566519 | T>G | W1466G |
| chr22 | 41566519 | T>A | W1466R |
| chr22 | 41566519 | T>C | W1466R |
| chr22 | 41566520 | G>T | W1466L |
| chr22 | 41566521 | G>C | W1466C |
| chr22 | 41566522 | T>A | Y1467N |
| chr22 | 41566522 | T>C | Y1467H |
| chr22 | 41566522 | T>G | Y1467D |
| chr22 | 41566523 | A>G | Y1467C |
| chr22 | 41566523 | A>T | Y1467F |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
EP300 Expression
References
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.
Disclaimer
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