Supplementary Figure 2: RNA expression of ADCY3 stratified according to c.2433–1G>A genotype

a, Sashimi plot of ADCY3 exons 13–15, displaying raw mapped RNA sequencing reads, pooled within individuals wild type (WT) (7 GG carriers), heterozygous (HE) (6 GA carriers) and homozygous (HO) (4 AA carriers) for the ADCY3 c.2433–1G>A variant from leukocytes and one adipose tissue sample. RNA sequencing densities are aligned to the transcript isoforms shown in Fig. 1. Read depth is displayed for each track (top left). Junction reads are visualized as arcs connecting the pair of exons at junction borders together with the number of junction reads. The plot was simplified by removing junction-spanning reads only observed once or connecting to features outside of exons 13–15 from the visualization. b, Splicing patterns within ADCY3, exons 13–15, quantified as percentage spliced in (PSI) for each ADCY3 c.2433–1G>A genotype group. c, Transcripts per million (TPM) normalized isoform expression for each of the three predicted ADCY3 isoforms, within each of the ADCY3 c.2433–1G>A genotype groups. The lower and upper hinges of the boxes in b and c correspond to the first and third quartiles of data, respectively, while the middle line is the median. The whiskers extend to the largest and smallest data points no further than 1.5 times the interquartile range.