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Updated: May 16, 2026
08:35
Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
APPRIS: annotation of principal and alternative splice isoforms
Jose Manuel Rodriguez1, Paolo Maietta, Iakes Ezkurdia
1Spanish National Bioinformatics Institute (INB), Madrid 28029, Spain.
Nucleic Acids Research
|November 20, 2012
Summary
The APPRIS database annotates human splice isoforms, identifying a principal isoform for most genes. Alternative variants often lack crucial structural and functional information compared to the principal isoform.
Area of Science:
- Genomics
- Bioinformatics
- Molecular Biology
Background:
- Manual annotation of the human genome is complex.
- Understanding splice isoforms and their functional impact is crucial.
Purpose of the Study:
- To present APPRIS, a database for human splice isoform annotation.
- To integrate protein structure, function, and cross-species conservation data.
- To identify a principal isoform for each gene.
Main Methods:
- Developing the APPRIS database (http://appris.bioinfo.cnio.es).
- Collecting, integrating, and analyzing splicing event predictions.
- Selecting a principal isoform based on structural, functional, and conservation data.
Main Results:
- APPRIS provides reliable annotations for human splice isoforms.
- A principal isoform was identified for 85% of protein-coding genes in GENCODE 7.
- At least 70% of alternative variants lose significant functional/structural information compared to the principal isoform.
Conclusions:
- APPRIS aids researchers in understanding splicing events and their functional consequences.
- The principal isoform serves as a reliable reference for gene annotation.
- Alternative splice variants often represent a loss of critical biological information.
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