Overview

Location [1]
6p21.32
Protein [2]
PHD finger protein 1
Synonyms [1]
PCL1, TDRD19C, MTF2L2, hPHF1, PHF2

PHD finger protein 1 (PHF1) is a gene that encodes a protein that functions as a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex. The protein is also a transcriptional repressor of homeotic genes. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

PHF1 is altered in 0.05% of all cancers with colon adenocarcinoma, low-grade endometrial stromal sarcoma, endometrial endometrioid adenocarcinoma, esophageal adenocarcinoma, and high-grade endometrial stromal sarcoma having the greatest prevalence of alterations [3].

PHF1 GENIE Cases - Top Diseases

The most common alterations in PHF1 are PHF1 Fusion (0.02%), PHF1 R6Q (0.09%), PHF1-JAZF1 Fusion (0.01%), PHF1-EPC1 Fusion (0.02%), and PHF1-MEAF6 Fusion (1.09%) [3].

PHF1 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.