Overview

Location [1]
1p36.31-p36.23
Protein [2]
Calmodulin-binding transcription activator 1
Synonyms [1]
CANPMR

Calmodulin binding transcription activator 1 (CAMTA1) is a gene that encodes a protein that functions in transcriptional regulation. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

CAMTA1 is altered in 0.04% of all cancers with epithelioid hemangioendothelioma, conventional glioblastoma multiforme, lung adenocarcinoma, breast invasive ductal carcinoma, and endometrial clear cell adenocarcinoma having the greatest prevalence of alterations [3].

CAMTA1 GENIE Cases - Top Diseases

The most common alterations in CAMTA1 are CAMTA1-WWTR1 Fusion (0.03%), CAMTA1 M107I (0.26%), CAMTA1-ERRFI1 Fusion (0.01%), and CAMTA1-TET1 Fusion (0.00%) [3].

CAMTA1 GENIE Cases - Top Alterations

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.