MutSpliceDB: a database of Splice Sites Variants
Gene | EP300 |
Mutation | NM_001429.4:c.1528+2T>C |
Allele registry ID | CA411686319 |
Effect | Intron inclusion between exons 6 & 7 |
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-4256-01A | a7e81ae5-b0f9-43ca-b462-496957433acf.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-BR-4256-01A_EP300_CA411686319.jpeg | hg38 |