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Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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AS-EAST: a functional annotation tool for putative proteins encoded by alternatively spliced transcripts.

Masafumi Shionyu1, Ken-ichi Takahashi, Mitiko Go

  • 1Department of Computer Bioscience, Nagahama Institute of Bio-Science and Technology, 1266, Tamura-cho, Nagahama, Shiga 526-0829, Japan. m_shionyu@nagahama-i-bio.ac.jp

Bioinformatics (Oxford, England)
|May 31, 2012
PubMed
Summary

Alternative Splicing Effects ASsessment Tools (AS-EAST) is a new online tool that annotates proteins affected by alternative splicing (AS). It helps researchers understand how AS impacts protein function and interactions, aiding experimental design for novel splice isoforms.

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Area of Science:

  • Genomics
  • Proteomics
  • Bioinformatics

Background:

  • Alternative splicing (AS) generates diverse protein isoforms from a single gene.
  • Understanding the functional impact of AS is crucial for molecular biology.
  • Existing tools may not comprehensively assess functional consequences of AS-driven protein alterations.

Purpose of the Study:

  • To introduce AS-EAST, an online tool for functional annotation of proteins from alternative splicing.
  • To enable users to evaluate functional domains within AS-altered protein regions.
  • To facilitate inference of altered inter-molecular interactions based on 3D structures.

Main Methods:

  • Input of transcript sequences to identify AS-altered regions in putative proteins.
  • Analysis of functional domain presence within altered regions.
  • Assessment of AS event impact on protein interaction residues using 3D structural data.

Main Results:

  • AS-EAST identifies specific protein regions affected by alternative splicing events.
  • The tool allows evaluation of whether critical functional domains are included or excluded in altered regions.
  • It predicts potential loss of inter-molecular interactions by analyzing effects on key residues.

Conclusions:

  • AS-EAST provides a valuable resource for functional annotation of AS-generated proteins.
  • The tool aids in prioritizing experimental validation of novel splice isoforms.
  • It enhances the understanding of alternative splicing's role in protein function and networks.