@genebe/mutsplicedb-hg38

mutsplicedb-hg38 0.0.1-20250326

MutSpliceDB is a specialized database focused on documenting the effects of splice site mutations on RNA splicing, hosted by the National Cancer Institute’s Biometric Research Program at https://brb.nci.nih.gov/cgi-bin/splicing/splicing_main.cgi. Developed by the Computational and Systems Biology Branch, it leverages RNA-seq BAM files from publicly available datasets like The Cancer Genome Atlas (TCGA) and Cancer Cell Lines Encyclopedia (CCLE) to provide evidence of splicing alterations, such as exon skipping or intron retention, caused by specific mutations. Users can explore a searchable table of variants with details like gene symbol, HGVS nomenclature, and Allele Registry IDs, alongside links to supporting RNA-seq evidence and external resources (e.g., GeneCards, ClinGen). The database allows sorting, filtering, and exporting data in CSV or Excel formats, making it a valuable tool for annotating splice site variants in cancer research. Community contributions of RNA-seq evidence are encouraged to expand its scope, though it’s intended for research purposes only, not clinical decision-making.