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Fig. 5 | Human Genomics

Fig. 5

From: Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Fig. 5

Graphical illustration of the SpliceAI Δ scores for three potential single-nucleotide variants at each coding position within SPINK1 exon 4. The x-axis enumerates the coding positions to correlate Δ scores with specific nucleotide changes. Variants subjected to full-length gene splicing assay are highlighted at the figure's bottom, with arrows denoting their analysis status: black for previously analyzed variants and red for those currently assessed in the initial step of prospective analysis. All variants generated exclusively normally spliced transcripts. Abbreviations: DS, Δ score; AG, acceptor gain; AL, acceptor loss; DG, donor gain; DL, donor loss

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Human Genomics

ISSN: 1479-7364