EP300.md
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# EP300
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+## Overview
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+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. EP300 mutations typically result in the loss of its HAT domain, which is crucial for acetylating histones and non-histone proteins.<sup>1,2</sup>
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## Relevance tier by entity
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EP300.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EP300_hg38.html)
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![image](images/proteinpaint/EP300.svg)
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+## References
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+1. *Pasqualucci, L., Dominguez-Sola, D., Chiarenza, A., Fabbri, G., Grunn, A., Trifonov, V., Kasper, L., Lerach, S., Tang, H., Ma, J., Rossi, D., Chadburn, A., Murty, V., Mullighan, C., Gaidano, G., Rabadán, R., Brindle, P., & Dalla-Favera, R. (2010). Inactivating mutations of acetyltransferase genes in B-cell lymphoma. Nature, 471, 189 - 195. https://doi.org/10.1038/nature09730.*
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+2. *Cerchietti, L., Hatzi, K., Caldas-Lopes, E., Yang, S., Figueroa, M., Morin, R., Hirst, M., Mendez, L., Shaknovich, R., Cole, P., Bhalla, K., Gascoyne, R., Marra, M., Chiosis, G., & Melnick, A. (2010). BCL6 repression of EP300 in human diffuse large B cell lymphoma cells provides a basis for rational combinatorial therapy.. The Journal of clinical investigation, 120 12, 4569-82 . https://doi.org/10.1172/JCI42869.*