title: The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association.
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).
authors.affiliation: Vermont Cancer Center, Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, Vermont 05401, USA.
authors.forename: Joan A
authors.initials: JA
authors.lastname: Murphy
authors.forename: Ramiro
authors.initials: R
authors.lastname: Barrantes-Reynolds
authors.forename: Rama
authors.initials: R
authors.lastname: Kocherlakota
authors.forename: Jeffrey P
authors.initials: JP
authors.lastname: Bond
authors.forename: Marc S
authors.initials: MS
authors.lastname: Greenblatt
mesh_terms: D000483:Alleles; D002453:Cell Cycle / Q000235:genetics / Q000502:physiology; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000737:chemistry / Q000172:deficiency / Q000502:physiology*; D030541:Databases, Genetic; D019143:Evolution, Molecular; D005544:Forecasting; D019942:Genes, p16; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D013329:Structure-Activity Relationship; D025803:Tumor Suppressor Protein p14ARF / Q000737:chemistry / Q000235:genetics
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D025803:Tumor Suppressor Protein p14ARF