Fig. 4: Expression of the ANK3 isoforms and its relationship to the genetic risk for bipolar disorder.
From: Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder
a Summary statistics of isoform expression levels in two different brain regions by Pacific Biosciences single-molecule real-time sequencing. Percentages do not sum to 100% due to the high number of very low frequency isoforms not represented in the figure. b ANK3 transcript models as listed by the RefSeq database. Note that our long read data summarized in a show the RefSeq models to be incomplete and possibly incorrect. c Summary statistics from the PGC Bipolar Disorder GWAS (2011) in the ANK3 region. Odds ratios for the minor allele with genome-wide significantly associated SNPs in red (p-value < = 5.0E–08). Rs41283526 odds ratio from Norwegian sample added to plot (in blue) for consistency with lower panels. r2 and D’ were computed from the Norwegian sample including all samples irrespective of diagnostic group. Haploblocks were computed in Haploview: significant SNPs from Table 3 highlighted in bold and minor haplotypes with majority of significant SNPs in black rectangles. Haplotype frequencies are highlighted in italics. Haplotypes are connected by a thin line if >1% and by a thick line if greater than 10%
