MutSpliceDB: a database of Splice Sites Variants
| Gene | PTEN |
| Mutation | NM_000314.6:c.1026+1G>T |
| Allele registry ID | CA377486187 |
| Effect | Intron inclusion between exons 8 & 9, and loss of exon 9 expression |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| U-118 MG | G30636.U-118_MG.1.bam | GDC/CCLE | U118MG_PTEN_CA377486187.jpeg | hg19 | G30636.U-118_MG.1_PTEN_mini.zip | Open mini BAM in IGV |
