Overview

Location [1]
17p13.1
Protein [2]
Period circadian protein homolog 1
Synonyms [1]
PER, RIGUI, hPER

Period circadian clock 1 (PER1) is a gene that encodes a protein that functions as a component of the circadian rhythms of locomotor activity, metabolism, and behavior. 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.

PER1 is altered in 0.27% of all cancers with breast invasive ductal carcinoma, high grade ovarian serous adenocarcinoma, endometrial endometrioid adenocarcinoma, invasive breast carcinoma, and low grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

PER1 GENIE Cases - Top Diseases

The most common alterations in PER1 are PER1 A912T (0.43%), PER1 E819K (3.33%), PER1 P474L (0.28%), PER1 A333V (0.20%), and PER1 A943P (0.22%) [3].

PER1 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.