Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources

Dinanath Sulakhe, Mark D'Souza, Sheng Wang, Sandhya Balasubramanian, Prashanth Athri, Bingqing Xie, Stefan Canzar, Gady Agam, T. Conrad Gilliam, Natalia Maltsev

Research output: Contribution to journalReview articlepeer-review

20 Scopus citations

Abstract

In recent years, the emphasis of scientific inquiry has shifted from whole-genome analyses to an understanding of cellular responses specific to tissue, developmental stage or environmental conditions. One of the central mechanisms underlying the diversity and adaptability of the contextual responses is alternative splicing (AS). It enables a single gene to encode multiple isoforms with distinct biological functions. However, to date, the functions of the vast majority of differentially spliced protein isoforms are not known. Integration of genomic, proteomic, functional, phenotypic and contextual information is essential for supporting isoform-based modeling and analysis. Such integrative proteogenomics approaches promise to provide insights into the functions of the alternatively spliced protein isoforms and provide high-confidence hypotheses to be validated experimentally. This manuscript provides a survey of the public databases supporting isoform-based biology. It also presents an overview of the potential global impact of AS on the human canonical gene functions, molecular interactions and cellular pathways.

Original languageEnglish (US)
Pages (from-to)1754-1768
Number of pages15
JournalBriefings in bioinformatics
Volume20
Issue number5
DOIs
StatePublished - Sep 27 2019

All Science Journal Classification (ASJC) codes

  • Information Systems
  • Molecular Biology

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