Fig. 8: Analyses of ClinVar and GWAS variants in ncORFs. | Nature Communications

Fig. 8: Analyses of ClinVar and GWAS variants in ncORFs.

From: Widespread stable noncanonical peptides identified by integrated analyses of ribosome profiling and ORF features

Fig. 8

a Schematic illustrating the workflow for analyzing ‘noncoding’ variants annotated by ClinVar and GWAS catalog in ncORFs. b The number of ClinVar variants located in different ncORF types, grouped based on the start codon and PepScore. We used the software SnpEff to annotate different functional impacts of the variant on the ncORFs. c As in (b), the GWAS variants were analyzed. d For the ncORFs with AUG start codon and high PepScore (>0.6), we plotted the number containing ClinVar and GWAS variants grouped based on ORF type. e The example gene NLRP3 encodes a high-PepScore uORF containing ClinVar variants. The variants are colored based on mutation types shown in (b).

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