Shi Qingqing, Dai Min, Ma Yingke, Liu Jun, Liu Xiuying, Wang Xiu-Jie
Key Laboratory of Genetic Network Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
University of Chinese Academy of Sciences, Beijing 100049, China.
Genomics Proteomics Bioinformatics. 2024 Dec 3;22(5). doi: 10.1093/gpbjnl/qzae068.
Expansion of tandem repeats in genes often causes severe diseases, such as fragile X syndrome, Huntington's disease, and spinocerebellar ataxia. However, information on genes associated with repeat expansion diseases is scattered throughout the literature, systematic prediction of potential genes that may cause diseases via repeat expansion is also lacking. Here, we develop DRED, a Database of genes related to Repeat Expansion Diseases, as a manually-curated database that covers all known 61 genes related to repeat expansion diseases reported in PubMed and OMIM, along with the detailed repeat information for each gene. DRED also includes 516 genes with the potential to cause diseases via repeat expansion, which were predicted based on their repeat composition, genetic variations, genomic features, and disease associations. Various types of information on repeat expansion diseases and their corresponding genes/repeats are presented in DRED, together with links to external resources, such as NCBI and ClinVar. DRED provides user-friendly interfaces with comprehensive functions, and can serve as a central data resource for basic research and repeat expansion disease-related medical diagnosis. DRED is freely accessible at http://omicslab.genetics.ac.cn/dred, and will be frequently updated to include newly reported genes related to repeat expansion diseases.
基因中串联重复序列的扩增常常会引发严重疾病,如脆性X综合征、亨廷顿舞蹈症和脊髓小脑共济失调。然而,与重复序列扩增疾病相关的基因信息分散于各类文献中,目前也缺乏对可能通过重复序列扩增导致疾病的潜在基因进行系统预测的方法。在此,我们开发了DRED(重复序列扩增疾病相关基因数据库),这是一个经过人工整理的数据库,涵盖了在PubMed和OMIM中报道的所有已知的61个与重复序列扩增疾病相关的基因,以及每个基因的详细重复序列信息。DRED还包括516个有可能通过重复序列扩增导致疾病的基因,这些基因是根据其重复序列组成、遗传变异、基因组特征和疾病关联预测出来的。DRED展示了关于重复序列扩增疾病及其相应基因/重复序列的各类信息,同时还提供了指向NCBI和ClinVar等外部资源的链接。DRED提供了功能全面且用户友好的界面,可作为基础研究和重复序列扩增疾病相关医学诊断的核心数据资源。可通过http://omicslab.genetics.ac.cn/dred免费访问DRED,并且该数据库将定期更新,以纳入新报道的与重复序列扩增疾病相关的基因。