splicing
Definition
Splicing is the post-transcriptional process by which introns are removed from pre-mRNA and exons are joined together to form mature mRNA in eukaryotic cells. This process is catalyzed by the spliceosome, a large ribonucleoprotein complex. Alternative splicing allows a single gene to produce multiple protein isoforms by selectively including or excluding specific exons, dramatically expanding proteomic diversity. Splicing is critical for gene expression regulation and cellular function, with approximately 95% of human multi-exon genes undergoing alternative splicing. Aberrant splicing is implicated in numerous diseases, including cancer, neurological disorders, and genetic diseases, making it a key target for therapeutic intervention and biomarker discovery.
Visualize splicing in Nodes Bio
Researchers can visualize splicing networks in Nodes Bio by mapping relationships between splice variants, regulatory factors, and disease phenotypes. Network graphs can reveal how splicing factors interact with target genes, identify co-regulated exon clusters, and trace downstream effects of alternative splicing on protein-protein interaction networks. This enables discovery of splicing-mediated pathways and identification of therapeutic targets in splice-variant-driven diseases.
Visualization Ideas:
- Splicing factor-target gene regulatory networks showing which factors control specific splice variants
- Exon inclusion/exclusion networks across different tissue types or disease states
- Protein isoform interaction networks comparing functional differences between splice variants
Example Use Case
A cancer research team investigating tumor heterogeneity discovers that a specific splice variant of the MDM2 gene is overexpressed in treatment-resistant melanoma cells. Using transcriptomic data, they map the network of splicing factors regulating MDM2 alternative splicing, including SRSF1 and hnRNP proteins. By visualizing connections between these regulators, their upstream signaling pathways, and downstream oncogenic effects, the team identifies SRSF1 as a potential therapeutic target. They validate that inhibiting SRSF1 shifts MDM2 splicing patterns and restores drug sensitivity.