Fig. 2: SpTransformer recognized sequence features related to tissue-specific splicing.

a Corresponding gene expression of tested splice sites in the test dataset, grouped by tissue usage of splice sites. The two-sided Fisher’s test revealed a significant association between tissue usage and gene expression of splice sites (“Low” vs “Moderate”/“High”. “Low”: 0–1 NAUC, “Moderate”: 1–20 NAUC, ''High'': over 20 NAUC. The NAUC is an estimation of a gene’s expression level, annotated by the ASCOT⁶⁶ database.). Tissue usage was not totally dominated by gene expression. b Impact of in silico mutation around intron in the GLA gene. SpTransformer considers sequence features both proximal and distal to the splice donor site. Mutagenesis weight was calculated by the decrease in the predicted strength of the splice site when that nucleotide is mutated. c Impact of in silico mutation around exons in the APBB2 gene. Several known RBP motifs were found in regions of large weight. d De novo motifs that influence the tissue-usage prediction of SpTransformer (left) and their presentations in different tissues (right). The names of similar RBP motifs, as reported by MEME tools, are marked.