Overview

Location [1]
22q13.2
Protein [2]
Histone acetyltransferase p300
Synonyms [1]
KAT3B, RSTS2, MKHK2, p300

E1A binding protein p300 (EP300) is a gene that encodes a protein that functions in transcriptional regulation by histone acetylation. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

EP300 is altered in 4.12% of all cancers with colon adenocarcinoma, lung adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

EP300 GENIE Cases - Top Diseases

The most common alterations in EP300 are EP300 Mutation (3.42%), EP300 Amplification (0.12%), EP300 Loss (0.10%), EP300 D1399N (0.07%), and EP300 Q2268del (1.00%) [3].

EP300 GENIE Cases - Top Alterations

Significance of EP300 in Diseases

Follicular Lymphoma +

Urothelial Carcinoma +

Diffuse Large B-Cell Lymphoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.