Table 1.
Deep annotation of 4 genomic variants within the HEY2 gene with OpenVar
| Genomic variant | Effect on the canonical ORF (Q9UBP5) | Effect on the alternative ORF (IP_145210) | ||||||
|---|---|---|---|---|---|---|---|---|
| Locus effect | Protein effect | Reported by common annotators | Reported by OpenVar | Locus effect | Protein effect | Reported by common annotators | Reported by OpenVar | |
| chr6:125,759,167 C > T | Stop gained | R127* | Yes | Yes | 5′UTR variant | – | No | Yes |
| chr6:125,759,503 C > T | Stop gained | R239* | Yes | Yes | 5′UTR variant | – | No | Yes |
| chr6:125,759,711 C > T | Missense | S308L | Yes | Yes | Stop gained | Q106* | No | Yes |
| chr6:125,759,780 G > T | Missense | G331V | Yes | Yes | Stop gained | G129* | No | Yes |
Common annotators include VEP, Annovar and SnpEff
*symbolises a stop codon