Fig. 4
From: SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
The delta score pitfall: extending the 5’UTR of GRN. RNAseq and SpliceAI-visual outputs displayed in IGV. Above: SpliceAI RS for the reference allele of GRN along with RNAseq from one control; below: SpliceAI RS for NM_002087.4(GRN):c.-9A > G, along with RNAseq of patient 2. Bottom: two upstream Open Reading Frames in the intronic retention (yellow), height corresponding to the initiation strength of the AUG codon based on the Kozak context from TIS [20]