Location [1]
Protein [2]
PHD finger protein 6
Synonyms [1]

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 0.59% 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 (0.78%), PHF6 Amplification (0.07%), PHF6 I314T (0.06%), PHF6 R274Q (0.10%), and PHF6 X140_splice (0.04%) [3].

PHF6 GENIE Cases - Top Alterations

Significance of PHF6 in Diseases

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Myeloid Neoplasm +

Myelodysplastic Syndromes +

Myelodysplastic Syndrome With Excess Blasts-2 +

Therapy-Related Myelodysplastic Syndrome +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Acute Lymphoblastic Leukemia +

Aplastic Anemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Therapy-Related Chronic Myelomonocytic Leukemia +


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.