title: SpliceDisease database: linking RNA splicing and disease.
abstract: 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.
authors.affiliation: Department of Biomedical Informatics, Peking University Health Science Center, MOE Key Laboratory of Molecular Cardiology, Peking University, Beijing 100191, China. wjuan@hsc.pku.edu.cn
authors.forename: Juan
authors.initials: J
authors.lastname: Wang
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Kaibo
authors.initials: K
authors.lastname: Li
authors.forename: Wei
authors.initials: W
authors.lastname: Zhao
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Cui
mesh_terms: D030561:Databases, Nucleic Acid; D004194:Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012326:RNA Splicing; D014584:User-Computer Interface