Figure 1

Human ANK3 gene and protein structure. The ANK3 gene has many transcript isoforms (bottom) as a result of extensive alternative splicing of unique 5’ exons containing transcription start sites with up to 43 other exons (exons indicated by vertical bars, introns by horizontal lines). Ankyrin G protein domains (blue bars) are shown above the gene structure. SNPs with evidence for disease association surpassing the genome-wide significance threshold in one or more GWAS of BD or a joint analysis of BD and schizophrenia are indicated at top (red vertical lines). Red bars indicate regions in linkage disequilibrium with the identified SNPs within which the functional sequence variants contributing to disease risk are likely located (5’ associated region on right, 3’ associated region on left). Image adapted from the UCSC Genome Browser.