If there is a particular gene of interest, this can be entered into the ‘Search by Gene’ box, using the gene name or Ensembl ID (e.g. BRCA2 or ENSG00000139618).
If there are multiple transcripts available, a pop up box will display a list of options (figure 2). Choose the transcript of interest and click ‘Select transcript’.
VSAS results are available for any transcript with the protein_coding biotype. The table additionally lists the transcript support level (TSL) of each transcript (see Ensembl for details) and its genomic position on GRCh38/hg38.
Figure 2: An example of transcript options to select from.
Selecting a transcript will present the user with a pheWAS plot.
Previous: Viewing Options in Transcript Variant Set Analysis