Overview

Gene Location [1]
9p21.3
Pathway
Cell cycle control
Variant Type
Large Deletion
Gene
CDKN2A

Significance of CDKN2A Large Deletion in Diseases

Malignant Solid Tumor +

Melanoma +

Acral Lentiginous Melanoma +

Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Ependymoma +

Glioblastoma +

Glioma +

Head And Neck Squamous Cell Carcinoma +

Lymphoma +

Malignant Glioma +

Meningioma +

Multiple Myeloma +

Oligodendroglioma +

Primary Central Nervous System Lymphoma +

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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.