Fig. 1

OpenVar to annotate and explore the impact of genomic variants using deeper genome annotations. A OpenVar uses a deep genome annotation, OpenProt, to annotate genomic variants (yellow). It will annotate the effect on canonical ORFs (green) listed in reference annotations, and on alternative ORFs (red) listed in OpenProt. For example, a given variant may be a 3′UTR variant for a canonical ORF, but a missense variant for a downstream ORF. B Visualization of the genomic variants in the HEY2 gene from the SynMicDB and COSMIC datasets. The genomic position is indicated at the top (genome), with the HEY2 transcripts in blue (Ensembl: ENST00000368364.3 and ENST00000368365.5; respectively NCBI RefSeq: NM_012259.2 and XM_017010629.2), the canonical ORFs in green (UniProt: Q9UBP5 and Q5TF93; respectively Ensembl: ENSP00000357348.3 and ENSP00000357349.1; or NCBI RefSeq: NP_036391.1 and XP_016866118.1) and an alternative ORF in red (OpenProt: IP_145210). The variants tracks are below (SynMicDB and COSMIC variants), each grouping the variants per category of effect on the canonical proteins (up side) and the alternative protein (flipped). The colour code for the effect of the variants is at the bottom of the figure. The black line on the variants tracks indicates the number of variants with the maximal impact between the canonical and the alternative ORFs