StopKB: a comprehensive knowledgebase for nonsense suppression therapies.

IF 3.4 4区生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY

Database: The Journal of Biological Databases and Curation Pub Date : 2024-10-12 DOI:10.1093/database/baae108

Nicolas Haas, Julie Dawn Thompson, Jean-Paul Renaud, Kirsley Chennen, Olivier Poch

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引用次数: 0

Abstract

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/.

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StopKB：无意义抑制疗法综合知识库。

以过早终止密码子为特征的无义变异在人类遗传疾病和癌症易感性中扮演着重要角色。尽管过早终止密码子的发生率很高，但针对过早终止密码子的有效治疗策略仍是一个挑战。为了了解和探索其中错综复杂的机制，我们开发了 StopKB，这是一个综合知识库，汇集了无义变异、相关基因、疾病和表型等多个来源的数据。StopKB 确定了 637 317 个独特的无义变异，它们分布在 18 022 个人类基因中，与 3206 种疾病和 7765 种表型相关联。值得注意的是，这些变异中有 32% 被归类为无义介导的 mRNA 不敏感衰变，可能是无义抑制疗法的合适靶点。我们还提供了一个交互式网络界面，方便研究人员和临床医生高效、直观地探索数据，浏览无义变异的复杂情况。StopKB 是推进精准医学研究的宝贵资源，更具体地说，是针对与无义变异相关的遗传疾病开发靶向治疗干预措施的宝贵资源。数据库网址：https://lbgi.fr/stopkb/。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Database: The Journal of Biological Databases and Curation MATHEMATICAL & COMPUTATIONAL BIOLOGY-

CiteScore

9.00

自引率

3.40%

发文量

100

审稿时长

>12 weeks

期刊介绍： Huge volumes of primary data are archived in numerous open-access databases, and with new generation technologies becoming more common in laboratories, large datasets will become even more prevalent. The archiving, curation, analysis and interpretation of all of these data are a challenge. Database development and biocuration are at the forefront of the endeavor to make sense of this mounting deluge of data. Database: The Journal of Biological Databases and Curation provides an open access platform for the presentation of novel ideas in database research and biocuration, and aims to help strengthen the bridge between database developers, curators, and users.