Overview

Location [1]
Xq26.2
Protein [2]
PHD finger protein 6
Synonyms [1]
BFLS, CENP-31, BORJ

PHD finger protein 6 (PHF6) is a gene that encodes a protein with two PHD-type zinc finger domains. Missense mutations, nonsense mutations, frameshift insertions and deletions, and whole gene deletions are observed in cancers such as acute lymphoblastic leukemia, lung cancer, and skin cancer.

PHF6 is altered in 0.89% of all cancers with acute myeloid leukemia, lung adenocarcinoma, myelodysplastic syndromes, endometrial endometrioid adenocarcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

PHF6 GENIE Cases - Top Diseases

The most common alterations in PHF6 are PHF6 Mutation (0.43%), PHF6 Amplification (0.01%), PHF6 R274* (0.01%), PHF6 I314T (0.01%), and PHF6 Q30* (0.01%) [3].

PHF6 GENIE Cases - Top Alterations

Significance of PHF6 in Diseases

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Acute Lymphoblastic Leukemia +

Myeloid Neoplasm +

Myelodysplastic Syndromes +

Non-Hodgkin Lymphoma +

Aplastic Anemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Multiple Myeloma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

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.