MutSpliceDB: a database of Splice Sites Variants
Gene | EP300 |
Mutation | NM_001429.4:c.2241G>A |
Allele registry ID | CA10252784 |
Effect | Intron inclusion between exons 12 & 13 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-BR-8591-01A | 17c032b0-8c5f-4227-9a8b-cac59576ce8f.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-BR-8591-01A_EP300_CA10252784.jpeg | hg38 |