Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

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

Joan A Murphy1, Ramiro Barrantes-Reynolds, Rama Kocherlakota

  • 1Vermont Cancer Center, Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, Vermont 05401, USA.

Human Mutation
|September 15, 2004
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Rab11Bis required for binding and entry of recent H3N2, but not H1N1, influenza A isolates.

Journal of virology·2026
Same author

PABPC1 Modulates Immunoglobulin pre-mRNA Alternative Polyadenylation.

bioRxiv : the preprint server for biology·2026
Same author

Novel antibody cocktail therapy targeting extracellular tumor-specific mutations to treat EMT6 cell line-derived triple-negative breast cancer.

Scientific reports·2026
Same author

Tumor-specific antibody cocktail treatment suppresses colorectal tumor growth in mice.

Cancer immunology, immunotherapy : CII·2026
Same author

A history of the collaborative group of the Americas on inherited gastrointestinal cancer (CGA-IGC): 1995-2025.

Familial cancer·2026
Same author

Rab11B is required for binding and entry of recent H3N2, but not H1N1, influenza A isolates.

bioRxiv : the preprint server for biology·2025

The CDKN2A Database offers a comprehensive resource for human disease variants in the CDKN2A tumor suppressor gene. It integrates germline and somatic mutations with evolutionary and functional data for improved cancer research.

Area of Science:

  • Genetics
  • Bioinformatics
  • Cancer Biology

Background:

  • The CDKN2A gene is a critical tumor suppressor involved in various human cancers.
  • Existing databases often lack comprehensive integration of germline and somatic variants, limiting a holistic understanding of cancer predisposition and progression.
  • Interpreting the functional impact of specific CDKN2A variants requires diverse data, including evolutionary, structural, and functional information.

Purpose of the Study:

  • To introduce the CDKN2A Database, a novel online resource consolidating germline and somatic variants of the CDKN2A gene.
  • To enhance existing resources by incorporating extensive evolutionary, structural, and functional annotations for better variant interpretation.
  • To provide a user-friendly platform for accessing, downloading, and manipulating CDKN2A variant data.

Related Experiment Videos

Main Methods:

  • Compilation of germline and somatic variants of the CDKN2A gene from human disease data up to 2002.
  • Annotation of variants with evolutionary, structural, and functional information, including sequences, structures, alignments, functional measurements, and literature references.
  • Development of a database structure enabling online manipulation and downloadability, featuring a tree-based phylogenetic classification.

Main Results:

  • The CDKN2A Database successfully integrates both germline and somatic mutations, offering a dual perspective on cancer predisposition and somatic carcinogenesis.
  • The database provides rich annotations and primary data crucial for interpreting the functional significance of CDKN2A allelic variants.
  • The resource is accessible online, allowing for flexible data retrieval and analysis.

Conclusions:

  • The CDKN2A Database represents a significant advancement in cancer genetics resources by providing a unified and detailed view of CDKN2A variants.
  • This integrated approach facilitates a deeper understanding of the role of CDKN2A in both hereditary and sporadic cancers.
  • The database has potential implications for improving diagnostic and therapeutic strategies related to CDKN2A-associated diseases.