Overview

Location [1]
8q11.21
Protein [2]
DNA-dependent protein kinase catalytic subunit
Synonyms [1]
DNPK1, HYRC1, DNA-PKC, p350, DNA-PKcs, IMD26, XRCC7, DNAPK, DNAPKc, HYRC

Protein kinase, DNA-activated, catalytic polypeptide (PRKDC) is a gene that encodes a protein that functions as the catalytic subunit of the DNA-dependent protein kinase. The protein also plays important roles in DNA double strand break repair and recombination. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

PRKDC is altered in 7.82% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

PRKDC GENIE Cases - Top Diseases

The most common alterations in PRKDC are PRKDC Mutation (7.17%), PRKDC Amplification (0.48%), PRKDC N3604fs (0.15%), PRKDC R1985H (0.12%), and PRKDC Fusion (0.10%) [3].

PRKDC GENIE Cases - Top Alterations

Significance of PRKDC in Diseases

Melanoma +

Malignant Solid Tumor +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Diffuse Large B-Cell 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.