MutSpliceDB: a database of Splice Sites Variants
Gene | EP300 |
Mutation | NM_001429.4:c.4453-2A>G |
Allele registry ID | CA411702416 |
Effect | Intron inclusion between exons 27 & 28 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-SW-A7EA-01A | b3b169f7-56ec-4011-a1c2-056ec129afae_gdc_realn_rehead.bam | GDC/TCGA | TCGA-SW-A7EA-01A_EP300_CA411702416.jpeg | hg38 |