IR@PKUHSC  > 北京大学基础医学院  > 医学信息学系
学科主题医学信息学
SpliceDisease database: linking RNA splicing and disease
Wang, Juan1,2; Zhang, Jie3; Li, Kaibo1; Zhao, Wei2; Cui, Qinghua1,2
刊名NUCLEIC ACIDS RESEARCH
2012
DOI10.1093/nar/gkr1171
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
WOS记录号WOS:000298601300158
项目编号81001481
资助机构National Natural Science Foundation of China
引用统计
被引频次:29[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50955
专题北京大学基础医学院_医学信息学系
北京大学基础医学院
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
推荐引用方式
GB/T 7714
Wang, Juan,Zhang, Jie,Li, Kaibo,et al. SpliceDisease database: linking RNA splicing and disease[J]. NUCLEIC ACIDS RESEARCH,2012,40(D1):D1055-D1059.
APA Wang, Juan,Zhang, Jie,Li, Kaibo,Zhao, Wei,&Cui, Qinghua.(2012).SpliceDisease database: linking RNA splicing and disease.NUCLEIC ACIDS RESEARCH,40(D1),D1055-D1059.
MLA Wang, Juan,et al."SpliceDisease database: linking RNA splicing and disease".NUCLEIC ACIDS RESEARCH 40.D1(2012):D1055-D1059.
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