title: APPRIS: annotation of principal and alternative splice isoforms.
abstract: 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.
authors.affiliation: Spanish National Bioinformatics Institute (INB), Madrid 28029, Spain.
authors.forename: Jose Manuel
authors.initials: JM
authors.lastname: Rodriguez
authors.forename: Paolo
authors.initials: P
authors.lastname: Maietta
authors.forename: Iakes
authors.initials: I
authors.lastname: Ezkurdia
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pietrelli
authors.forename: Jan-Jaap
authors.initials: JJ
authors.lastname: Wesselink
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Lopez
authors.forename: Alfonso
authors.initials: A
authors.lastname: Valencia
authors.forename: Michael L
authors.initials: ML
authors.lastname: Tress
mesh_terms: D017398:Alternative Splicing; D030562:Databases, Protein; D006801:Humans; D020407:Internet; D058977:Molecular Sequence Annotation; D020033:Protein Isoforms / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism
chemical_list: D020033:Protein Isoforms