Supplementary Figure 12: Comparison of REVEL and CADD pathogenicity-prediction scores between DZIP1L and PKHD1. | Nature Genetics

Supplementary Figure 12: Comparison of REVEL and CADD pathogenicity-prediction scores between DZIP1L and PKHD1.

From: Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Supplementary Figure 12

A higher score indicates a more likely pathogenic effect of nucleotide exchanges at the corresponding position. For DZIP1L, red bars denote SNVs reported in this study, and green bars denote missense or loss-of-function variants found in ExAC. Height of green bars corresponds to the ExAC allele frequency in percent. (a) REVEL score. The x-axis refers to the coding DNA position of the longest transcript of the respective gene (DZIP1L = ENST00000327532; PKHD1 = ENST00000371117). Exon numbers and bounds are drawn above the axis. The y-axis displays scores for all possible amino acid changes at the corresponding position, averaged with a scope of 4 bases to the left and right by loess smoothing (b) CADD score. The x-axis refers to the coding DNA position of the longest transcript of the respective gene (DZIP1L = ENST00000327532; PKHD1 = ENST00000371117). Exon numbers and bounds are drawn above the axis. The y-axis displays scores for all possible amino acid changes at the corresponding position, averaged with a scope of 3 bases to the left and right by application of a Daniell kernel function.

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