Overview

Location [1]
6p21.2
Protein [2]
Cyclin-dependent kinase inhibitor 1
Synonyms [1]
p21CIP1, CDKN1, MDA-6, CIP1, SDI1, WAF1, CAP20, P21

Cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A) is a gene that encodes a protein that functions as a potent cyclin-dependent kinase inhibitor. The protein inhibits cyclin/CDK2 or cyclin/CDK4 complexes. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as intestinal cancer, liver cancer, and stomach cancer.

CDKN1A is altered in 0.98% of all cancers with bladder carcinoma, colorectal adenocarcinoma, non-small cell lung carcinoma, urothelial carcinoma, and melanoma having the greatest prevalence of alterations [3].

CDKN1A GENIE Cases - Top Diseases

The most common alterations in CDKN1A are CDKN1A Mutation (0.80%), CDKN1A Amplification (0.12%), CDKN1A Loss (0.04%), CDKN1A C117Lfs*12 (0.01%), and CDKN1A E108Gfs*21 (0.01%) [3].

CDKN1A GENIE Cases - Top Alterations

Significance of CDKN1A in Diseases

Malignant Solid Tumor +

Non-Hodgkin Lymphoma +

Colorectal Carcinoma +

Breast Carcinoma +

Bladder Carcinoma +

Head And Neck Carcinoma +

Melanoma +

Lymphoma +

Glioblastoma +

Esophageal Carcinoma +

Non-Small Cell Lung Carcinoma +

Gastric Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma +

Germ Cell Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Ovarian Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.