Department of Specialized Clinical Sciences and Odontostomatology, Polytechnic University of Marche, Ancona, Italy.
Hum Mutat. 2012 Jan;33(1):81-5. doi: 10.1002/humu.21609. Epub 2011 Oct 17.
Splicing is the most frequently altered biological process by mutations within gene regions. Information for splicing is recognized by several factors that bind pre-mRNA sequence and, through coordinated interaction, yield mature transcripts. Some in silico methods have been developed to predict if a mutation leads to aberrant splicing patterns. We previously created SpliceAid tool that is able to minimize false positive predictions because it adopts strictly experimental RNA target motifs bound by splicing proteins in humans. In order to improve prediction accuracy and better understand the splicing outcome, the tissue specificity of each splicing regulatory factor has to be taken into account. Here, we have developed SpliceAid 2 by adding the expression data related to the splicing factors extracted from the main proteomic and transcriptomic databases, true 5' and 3' splice sites, polypyrimidine tracts, and branch point sequences. The new version collects 2,220 target sites of 62 human splicing proteins and their expression data in 320 tissues per cell. SpliceAid 2 can be useful to foresee the splicing pattern alteration, to guide the identification of the molecular effect due to the mutations and to understand the tissue-specific alternative splicing. SpliceAid 2 is freely accessible at www.introni.it/spliceaid.html.
剪接是基因区域内突变最常改变的生物过程。剪接的信息由几个结合前体 mRNA 序列的因子识别,通过协调相互作用,产生成熟的转录物。已经开发了一些计算方法来预测突变是否导致异常剪接模式。我们之前创建了 SpliceAid 工具,它能够最小化假阳性预测,因为它采用了严格的实验 RNA 靶标模式,这些模式由人类剪接蛋白结合。为了提高预测准确性并更好地理解剪接结果,必须考虑每个剪接调节因子的组织特异性。在这里,我们通过添加与从主要蛋白质组学和转录组学数据库中提取的剪接因子相关的表达数据、真实的 5' 和 3' 剪接位点、多嘧啶序列和分支点序列,开发了 SpliceAid 2。新版本收集了 62 个人类剪接蛋白的 2,220 个靶标位点及其在 320 种细胞组织中的表达数据。SpliceAid 2 可用于预测剪接模式的改变,指导因突变而导致的分子效应的识别,并理解组织特异性的可变剪接。SpliceAid 2 可在 www.introni.it/spliceaid.html 上免费获得。