Identify variants with effect on splicing
This tool will analyze a variant track to determine whether the variants fall
within potential splice sites. First select your variant track (figure 27.3
) followed by a transcript track (see figure 27.4
). As part of the dialog you can choose to exclude all variants that do not fall within a splice site.
Figure 27.3: Variant track selection.
Figure 27.4: Transcript track selection.
If a variant falls within two base pairs of an intron-exon boundary, it will be annotated as a possible splice site disruption (see figure 27.5).
Figure 27.5: Results of the predict splice site effect tool.