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Fig. 2 | Cell & Bioscience

Fig. 2

From: OpenVar: functional annotation of variants in non-canonical open reading frames

Fig. 2

OpenVar reclassifies many low impact variants as high impact and highlights the role of non-canonical ORFs. A Bar chart of the relative proportion of variants in each impact category (modifier, low, moderate, high) when annotating the SynMicDB dataset with the Ensembl Variant Effect Predictor (VEP, in blue), Annovar (in red), SnpEff (in purple) or OpenVar (in green). B Bar chart of the relative proportion of variants in each impact category (modifier, low, moderate, high) when annotating the COSMIC catalog of variants for the HEY2 gene with the Ensembl Variant Effect Predictor (VEP, in blue), Annovar (in red), SnpEff (in purple) or OpenVar (in green). C Visualization of the relative impact of genomic variants in the HEY2 gene from the COSMIC dataset when annotated with the Ensembl Variant Effect Predictor (VEP), Annovar, SnpEff or OpenVar. The HEY2 transcript position is indicated at the bottom (ENST00000368364.3). The position of the canonical ORF is represented in light green (UniProt: Q9UBP5; which corresponds to Ensembl: ENSP00000357348.3 or NCBI RefSeq: NP_036391.1; transcript coordinates: 198-1212) with its functional domains in dark green (bHLH: IPR011598; and Orange: IPR003650). The position of the alternative ORF is represented in light red (OpenProt: IP_145210; transcript coordinates: 805-1237)

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