MutSpliceDB: a database of Splice Sites Variants
Gene | EP300 |
Mutation | NM_001429.4:c.4617+1G>A |
Allele registry ID | CA411703776 |
Effect | Intron inclusion between exons 28 & 29 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-LN-A49V-01A | fe1c21a3-bac4-4810-bc47-75563c64410a.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-LN-A49V-01A_EP300_CA411703776.jpeg | hg38 |