Figure 2.
The genomic map of the RPS7 noncoding variant and in silico prediction on splicing impact. (A) The genomic location map of the RPS7 c.-19G>C variant in reference to the noncoding exon and the start site (ATG/c.1, Alamut software). (B) In silico algorithms unanimously predicted a donor loss and the precise position of the 2 neo-donors at +4 and +98 loci (Alamut). (C) An independent algorithm (SpliceAI) concurrently confirmed a significant donor loss (at c.-19+1) and a robust new donor gain (at c.-19+98) induced by the c.-19G>C variant (framed red). SSF, SpliceSiteFinder.

The genomic map of the RPS7 noncoding variant and in silico prediction on splicing impact. (A) The genomic location map of the RPS7 c.-19G>C variant in reference to the noncoding exon and the start site (ATG/c.1, Alamut software). (B) In silico algorithms unanimously predicted a donor loss and the precise position of the 2 neo-donors at +4 and +98 loci (Alamut). (C) An independent algorithm (SpliceAI) concurrently confirmed a significant donor loss (at c.-19+1) and a robust new donor gain (at c.-19+98) induced by the c.-19G>C variant (framed red). SSF, SpliceSiteFinder.

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