Fig. 3
From: Molecular insights into genome-wide association studies of chronic kidney disease-defining traits
Functional analysis of MUC1. a Functional annotations of MUC1 locus on chromosome 1. Top track—high-confidence CpG islands. Middle track—variants associated with the renal expression of MUC1 (MUC1 eSNPs) represented as triangles and coloured by their functional consequences; blue—non-coding exonic, pink—mapping onto CpG islands, green—splice variant, grey—no annotations, the sentinel variant outlined in red, other tested eSNPs are shown as circles. The height of each eSNP is determined by the negative log10 P value for association with MUC1 expression in the kidney, so that eSNPs more significantly associated with MUC1 are higher than those less significantly associated. Bottom track—genes and a genomic scale bar for chromosome 1 in Mb. The coloured background reflects annotations from summarised chromatin states in adult human kidney tissue, red denotes transcription start site chromatin, green—transcribed chromatin, white—silent. b Renal expression of alternatively spliced MUC1 mRNA isoform in the TRANSLATE study and TCGA. Data are standardised expression (means and standard errors) stratified on rs4072037 genotype. The boxplot centre line shows the median, the two hinges show the upper and lower quartiles and the two whiskers show 1.5 times the interquartile range above and below the upper and lower quartiles respectively. c Renal expression of total MUC1 in the TRANSLATE study and TCGA. Data are standardised expression (means and standard errors) stratified on rs4072037 genotype. The boxplot centre line shows the median, the two hinges show the upper and lower quartiles and the two whiskers show 1.5 times the interquartile range above and below the upper and lower quartiles respectively. d N-terminus of pairwise alignment of alternatively spliced (bottom) and reference (top) MUC1 protein isoforms. Red arrows point to the predicted cleavage sites. e N-terminus of pairwise alignment of alternatively spliced (bottom) and reference (top) MUC1 protein isoforms after signal peptide removal. f Primary structure of the nine residues missing in the N-terminus of the alternatively spliced MUC1 isoform
