Overview

Location [1]
16p13.3
Synonyms [1]
MKHK1, RSTS1, KAT3A, CBP, RSTS

CREB binding protein (CREBBP) is a gene that encodes a protein that functions in transcriptional activation and is involved in the regulation of embryonic development, growth control, and homeostasis. The protein also acetylates histone proteins. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

Significance of CREBBP in Diseases

Acute Myeloid Leukemia +

Secondary Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Hodgkin Lymphoma +

Myelodysplastic Syndromes +

Myelodysplastic/Myeloproliferative Neoplasm +

Non-Hodgkin Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Acute Biphenotypic Leukemia +

Acute Erythroid Leukemia +

Acute Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Undifferentiated Leukemia +

Chronic Myeloid Leukemia +

Diffuse Large B-Cell Lymphoma +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Urothelial Carcinoma +

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.