SpliceDisease DB

SpliceDisease DB curates experimentally validated associations between pre-mRNA splicing mutations and human diseases to support investigation of splicing-related pathogenic mechanisms.

Key Features:

• Curated Data: Contains 2,337 manually curated entries linking splicing mutations with disease phenotypes across 303 genes and 370 distinct diseases.
• Experimental Support: Each entry is backed by experimental evidence documented in 898 scientific publications.
• Detailed Annotations: Provides nucleotide changes, gene locations, and PubMed ID references for each mutation-disease association.
• Standardized Nomenclature: Employs standardized gene and disease names to maintain consistency across entries.
• Genomic Integration: Integrates with NCBI and UCSC genome browsers for genomic annotations and sequences related to reported mutations.

Scientific Applications:

• Gene Regulation Studies: Enables analysis of how disruptions in RNA-binding proteins and their interactions affect gene regulation via splicing.
• Disease Mechanism Elucidation: Supports identification of pathways by which splicing defects lead to disease and potential therapeutic targets.
• Genomic Research: Facilitates mapping of mutations to specific genomic locations to support studies on the genetic basis of diseases and genome-wide association studies (GWAS).

Methodology:

The database was developed by rigorous manual curation of scientific literature to include only experimentally validated associations between splicing mutations and diseases.