Databases

The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association†

  1. Joan A. Murphy2,
  2. Ramiro Barrantes-Reynolds2,
  3. Rama Kocherlakota2,
  4. Jeffrey P. Bond2,
  5. Marc S. Greenblatt1,*

Article first published online: 30 AUG 2004

DOI: 10.1002/humu.20083

Issue

Human Mutation

Human Mutation

Volume 24, Issue 4, pages 296–304, October 2004

Additional Information

How to Cite

Murphy, J. A., Barrantes-Reynolds, R., Kocherlakota, R., Bond, J. P. and Greenblatt, M. S. (2004), The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association. Hum. Mutat., 24: 296–304. doi: 10.1002/humu.20083

Author Information

  1. 1

    Vermont Cancer Center, Department of Medicine, University of Vermont, Burlington, Vermont

  2. 2

    Vermont Cancer Center, Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, Vermont

*University of Vermont College of Medicine, 1 South Prospect Street, UHC Campus, St. Joseph 3400, Burlington, VT 05401

  1. †

    Communicated by Richard Wooster

Publication History

  1. Issue published online: 30 AUG 2004
  2. Article first published online: 30 AUG 2004
  3. Manuscript Accepted: 28 APR 2004
  4. Manuscript Received: 25 SEP 2003

Funded by

  • National Cancer Institute. Grant Numbers: R01 CA96536-02, R29 CA77636-01A1
  • Vermont Genetics Network. Grant Number: P20 RR16462-01
  • Vermont Cancer Center. Grant Number: P30 CA22435-18
  • DOE EPSCoR. Grant Number: DE FG02 00ER45828

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Keywords:

  • mutation;
  • somatic;
  • germline;
  • familial melanoma;
  • cell cycle;
  • tumor suppressor gene;
  • p16;
  • Ink4a;
  • ARF;
  • curation

Abstract

In this report, we introduce the CDKN2A Database, an online database of germline and somatic variants of the CDKN2A tumor suppressor gene recorded in human disease through the year 2002, annotated with evolutionary, structural, and functional information. The CDKN2A Database improves upon existing resources by: 1) including both somatic mutations and germline variants, thereby adding the perspective of somatic cell carcinogenesis to that of hereditary cancer predisposition; 2) including information that assists with the interpretation of allelic variants, such as other primary data (sequences, structures, alignments, functional measurements, and literature references) and annotations (extensive text, figures, and a tree-based phylogenetic classification); and 3) providing the information in a format that allows a user to either download the database or to easily manipulate it online. We describe the database structure, content, current uses, and potential implications (http://biodesktop.uvm.edu/perl/p16). Hum Mutat 24:296–304, 2004. © 2004 Wiley-Liss, Inc.

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