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学科主题: 医学信息学
题名:
SpliceDisease database: linking RNA splicing and disease
作者: Wang, Juan1,2; Zhang, Jie3; Li, Kaibo1; Zhao, Wei2; Cui, Qinghua1,2
刊名: NUCLEIC ACIDS RESEARCH
发表日期: 2012
DOI: 10.1093/nar/gkr1171
卷: 40, 期:D1, 页:D1055-D1059
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Biochemistry & Molecular Biology
研究领域[WOS]: Biochemistry & Molecular Biology
关键词[WOS]: NUCLEOTIDE STRUCTURE ; COMPUTATIONAL TOOLS ; MUTATION PATTERN ; GENOME ; GENES ; PREDICT ; SITES ; RESOURCE ; SIGNALS ; EVENTS
英文摘要:

RNA splicing is an important aspect of gene regulation in many organisms. Splicing of RNA is regulated by complicated mechanisms involving numerous RNA-binding proteins and the intricate network of interactions among them. Mutations in cis-acting splicing elements or its regulatory proteins have been shown to be involved in human diseases. Defects in pre-mRNA splicing process have emerged as a common disease-causing mechanism. Therefore, a database integrating RNA splicing and disease associations would be helpful for understanding not only the RNA splicing but also its contribution to disease. In SpliceDisease database, we manually curated 2337 splicing mutation disease entries involving 303 genes and 370 diseases, which have been supported experimentally in 898 publications. The SpliceDisease database provides information including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relationship among gene mutations, splicing defects and diseases. We standardized the names of the diseases and genes and provided links for these genes to NCBI and UCSC genome browser for further annotation and genomic sequences. For the location of the mutation, we give direct links of the entry to the respective position/region in the genome browser. The users can freely browse, search and download the data in SpliceDisease at http://cmbi.bjmu.edu.cn/sdisease.

语种: 英语
所属项目编号: 81001481
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000298601300158
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50955
Appears in Collections:基础医学院_医学信息学系_期刊论文

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作者单位: 1.Peking Univ, Hlth Sci Ctr, Dept Biomed Informat, Beijing 100191, Peoples R China
2.Peking Univ, MOE Key Lab Mol Cardiol, Beijing 100191, Peoples R China
3.Beijing Fang Yuan Teng DA Technol Co Ltd, Beijing 100083, Peoples R China

Recommended Citation:
Wang, Juan,Zhang, Jie,Li, Kaibo,et al. SpliceDisease database: linking RNA splicing and disease[J]. NUCLEIC ACIDS RESEARCH,2012,40(D1):D1055-D1059.
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