Fig. 1: Identification of all possible single nucleotide variants (SNVs) modifying or creating upstream open reading frames (upORFs) in the 5’UTR of ENG. | Communications Biology

Fig. 1: Identification of all possible single nucleotide variants (SNVs) modifying or creating upstream open reading frames (upORFs) in the 5’UTR of ENG.

From: Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia

Fig. 1

a MORFEE annotated SNVs that modify existing upORFs or create new ones (New_Stop-creating, uStop-deleting SNVs and uTIS-creating SNVs). b Three types of upORFs can result from the creation of upstream translation initiation sites (uTIS) in the 5’UTR of ENG. uoORF-SNVs, variants at the origin of upORFs overlapping the coding sequence (CDS); eCDS-SNVs, variants creating elongated CDS; uORF-SNVs, variants creating fully upstream upORFs. c Detailed illustration of upORFs generated by uTIS-creating SNVs. The type of uTIS and position of stop codons associated with the generated upORFs, as well as the number of each type of upORF and of uTIS are indicated. TSS, translation start site.

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