Spanish National Bioinformatics Institute (INB), Madrid 28029, Spain.
Nucleic Acids Res. 2013 Jan;41(Database issue):D110-7. doi: 10.1093/nar/gks1058. Epub 2012 Nov 17.
Here, we present APPRIS (http://appris.bioinfo.cnio.es), a database that houses annotations of human splice isoforms. APPRIS has been designed to provide value to manual annotations of the human genome by adding reliable protein structural and functional data and information from cross-species conservation. The visual representation of the annotations provided by APPRIS for each gene allows annotators and researchers alike to easily identify functional changes brought about by splicing events. In addition to collecting, integrating and analyzing reliable predictions of the effect of splicing events, APPRIS also selects a single reference sequence for each gene, here termed the principal isoform, based on the annotations of structure, function and conservation for each transcript. APPRIS identifies a principal isoform for 85% of the protein-coding genes in the GENCODE 7 release for ENSEMBL. Analysis of the APPRIS data shows that at least 70% of the alternative (non-principal) variants would lose important functional or structural information relative to the principal isoform.
在这里,我们介绍了 APPRIS(http://appris.bioinfo.cnio.es),这是一个存储人类剪接异构体注释的数据库。APPRIS 的设计目的是通过添加可靠的蛋白质结构和功能数据以及来自跨物种保守性的信息,为人类基因组的手动注释提供价值。APPRIS 为每个基因提供的注释的可视化表示形式允许注释者和研究人员轻松识别剪接事件带来的功能变化。除了收集、整合和分析剪接事件影响的可靠预测外,APPRIS 还基于每个转录本的结构、功能和保守性注释,为每个基因选择一个参考序列,这里称为主要异构体。APPRIS 确定了 GENCODE 7 版本中 ENSEMBL 中 85%的蛋白质编码基因的主要异构体。对 APPRIS 数据的分析表明,相对于主要异构体,至少 70%的替代(非主要)变体将丢失重要的功能或结构信息。