Overview

Location [1]
16p13.3
Protein [2]
CREB-binding protein
Synonyms [1]
KAT3A, RSTS1, RSTS, CBP

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.

CREBBP is altered in 4.19% of all cancers with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

CREBBP GENIE Cases - Top Diseases

The most common alterations in CREBBP are CREBBP Mutation (4.67%), CREBBP Loss (0.10%), CREBBP Amplification (0.09%), CREBBP I1084Sfs*15 (0.08%), and CREBBP S1680del (0.07%) [3].

CREBBP GENIE Cases - Top Alterations

Significance of CREBBP in Diseases

Acute Myeloid Leukemia +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Follicular Lymphoma +

Diffuse Large B-Cell Lymphoma +

Non-Hodgkin Lymphoma +

Urothelial Carcinoma +

Acute Lymphoblastic Leukemia +

Acute Biphenotypic Leukemia +

Acute Erythroid 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 +

Hodgkin Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myelodysplastic Syndromes +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/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 6. 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.