StopKB: a comprehensive knowledgebase for nonsense suppression therapies.

Fiche publication

Date publication

octobre 2024

Journal

Database : the journal of biological databases and curation

Auteurs

Membres identifiés du Cancéropôle Est :
Dr POCH Olivier , Dr THOMPSON Julie

Tous les auteurs :
Haas N, Thompson JD, Renaud JP, Chennen K, Poch O

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/39395187

Résumé

Nonsense variations, characterized by premature termination codons, play a major role in human genetic diseases as well as in cancer susceptibility. Despite their high prevalence, effective therapeutic strategies targeting premature termination codons remain a challenge. To understand and explore the intricate mechanisms involved, we developed StopKB, a comprehensive knowledgebase aggregating data from multiple sources on nonsense variations, associated genes, diseases, and phenotypes. StopKB identifies 637 317 unique nonsense variations, distributed across 18 022 human genes and linked to 3206 diseases and 7765 phenotypes. Notably, ∼32% of these variations are classified as nonsense-mediated mRNA decay-insensitive, potentially representing suitable targets for nonsense suppression therapies. We also provide an interactive web interface to facilitate efficient and intuitive data exploration, enabling researchers and clinicians to navigate the complex landscape of nonsense variations. StopKB represents a valuable resource for advancing research in precision medicine and more specifically, the development of targeted therapeutic interventions for genetic diseases associated with nonsense variations. Database URL: https://lbgi.fr/stopkb/.