Overview

Location [1]
1p36.32
Protein [2]
PR domain zinc finger protein 16
Synonyms [1]
CMD1LL, KMT8F, LVNC8, MEL1, PFM13

PR domain containing 16 (PRDM16) is a gene that encodes a protein that functions as a zinc finger transcription factor. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, pituitary cancer, and skin cancer.

PRDM16 is altered in 0.12% of all cancers with high grade ovarian serous adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, invasive breast carcinoma, and breast invasive lobular carcinoma having the greatest prevalence of alterations [3].

PRDM16 GENIE Cases - Top Diseases

The most common alterations in PRDM16 are PRDM16 R759Q (0.28%), PRDM16 A1220V (0.39%), PRDM16 A165T (0.85%), PRDM16 A458T (0.39%), and PRDM16 A472T (0.39%) [3].

PRDM16 GENIE Cases - Top Alterations

Significance of PRDM16 in Diseases

Acute Myeloid Leukemia +

Secondary Acute Myeloid Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Acute Leukemia +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Hodgkin Lymphoma +

Myelodysplastic Syndromes +

Non-Hodgkin Lymphoma +

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.