Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Exploring alternative transcript structure in the human genome using blocks and InterPro.

Ann E Loraine1, Gregg A Helt, Melissa S Cline

  • 1Bioinformatics Department, Affymetrix, 6550 Vallejo St, Emeryville, CA 94530 USA. ann_loraine@affymetrix.com

Journal of Bioinformatics and Computational Biology
|August 4, 2004
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Track Hub Quickload Translator: Convert Track Hub or Quickload data for viewing in the UCSC Genome Browser or the Integrated Genome Browser.

bioRxiv : the preprint server for biology·2026
Same author

ClinGen API platform for classification of human genetic variants.

Cell genomics·2026
Same author

Cancer genomic profiling predicts pathogenicity of <i>BRCA1</i> and <i>BRCA2</i> variants.

medRxiv : the preprint server for health sciences·2026
Same author

When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutions.

American journal of human genetics·2025
Same author

Mapping MAVE data for use in human genomics applications.

Genome biology·2025
Same author

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.

Nature communications·2025
Same journal

CNV-ECOD: A copy number variation detection method based on ECOD algorithm using next-generation sequencing data.

Journal of bioinformatics and computational biology·2026
Same journal

ReinVar: A model-free paradigm-based reinforcement learning approach to detect copy number variation.

Journal of bioinformatics and computational biology·2026
Same journal

When pipelines run but coordinates fail: A simple spatial specificity check for false locality in post-GWAS analysis.

Journal of bioinformatics and computational biology·2026
Same journal

Comparative benchmarking of template-based, evolutionary-diffusion, and generative language models for IsPETase structure prediction.

Journal of bioinformatics and computational biology·2026
Same journal

Trap spaces as labelled ideals of SCC posets: A structural-functional theory of reachability in asynchronous boolean networks.

Journal of bioinformatics and computational biology·2026
Same journal

Erratum - DDINet: Drug-drug interaction prediction network based on multi-molecular fingerprint features and multi-head attention centered weighted autoencoder.

Journal of bioinformatics and computational biology·2026
See all related articles

Alternative splicing generates diverse proteins from single genes. This study developed methods to identify how variations in gene transcripts affect protein motifs, revealing functional impacts in 30% of multi-variant human genes.

Area of Science:

  • Molecular Biology
  • Genomics
  • Bioinformatics

Background:

  • Alternative splicing significantly increases proteome diversity.
  • Understanding how transcript variants impact protein function is crucial in molecular biology.

Purpose of the Study:

  • To investigate the impact of alternative splicing on protein function using computational analysis.
  • To develop and apply novel data mining and visualization tools to study transcript diversity and its effect on conserved motifs.

Main Methods:

  • Deduced exon-intron structures for over 8000 human genes.
  • Developed a data mining technique (DiffMotif) to identify differential conserved motifs in alternatively spliced transcripts.
  • Created a visualization tool (ProtAnnot) to analyze motifs within genomic context.

Related Experiment Videos

Main Results:

  • Identified 30% of multi-variant genes exhibiting differential conserved motifs across mRNA variants.
  • Analyzed specific genes (MEOX1, AIRE, PLAT, CD79b) to hypothesize functional roles of alternative splicing.
  • Demonstrated the utility of BLOCKS and InterPro databases in this analysis.

Conclusions:

  • Alternative splicing can modulate protein function through changes in conserved motifs.
  • Computational tools like DiffMotif and ProtAnnot are effective for studying alternative splicing.
  • Motif databases are valuable resources for understanding transcript diversity and gene function.