Exon Nomenclature And Classification of Transcripts (ENACT) provides a systematic framework to annotate exon...

Area of Science:

• Genomics
• Proteomics
• Bioinformatics

Background:

• Gene functional repertoire is enhanced by isoform diversity, producing distinct protein variants.
• Understanding the extent and impact of transcriptome diversifying processes on proteome diversity is limited.
• Proteogenomic consequences of alternative splicing and transcription require further investigation.

Purpose of the Study:

• To develop a framework for integrating genomic exon information with isoform sequences.
• To enable tracking and assessment of splice-site variability and its impact on protein diversity.
• To facilitate systematic analysis of isoform diversity and exon inclusion roles.

Main Methods:

• Developed the Exon Nomenclature And Classification of Transcripts (ENACT) framework.
• Centralized exonic loci to integrate protein sequence information with transcripts.
• Generated unique descriptors to track and assess splice-site variability.

Main Results:

• The ENACT framework provides tractable exon features for systematic isoform diversity analysis.
• Case studies revealed systemic roles of exon inclusion in regulating coding region diversity.
• Publicly accessible annotations for protein-coding genes and transcripts from multiple model organisms were generated.

Conclusions:

• ENACT enables comprehensive analysis of isoform diversity and its proteogenomic consequences.
• Exon inclusion is a key mechanism regulating protein diversity.
• The ENACT resource supports further research into gene and protein evolution.