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. Author manuscript; available in PMC: 2014 Oct 1.
Published in final edited form as: Trends Genet. 2013 Sep 2;29(10):10.1016/j.tig.2013.08.001. doi: 10.1016/j.tig.2013.08.001

Figure 2.

Figure 2

Schematic of the AUTS2 genomic region. Numbers to the left of the lines correspond to reference numbers. Human accelerated sequences are shown as blue lines above the gene [66–68]. Structural variants [6,8,18–26,28–30,48,49] are represented as colored lines (red, deletion; orange, inversion; green, duplication; purple, translocation). Single-nucleotide polymorphisms (SNPs) are shown as magenta stars. rs6943555 is associated with alcohol consumption [42]. SNPs in [46,47] are associated with bipolar disorder. SNPs in [46] are reported to be in strong linkage disequilibrium with each other. Arrows in bars signify that the structural variant extends past the gene in that direction. Exons are depicted as light-blue rectangles, as defined by the RefSeq genes track in the University of California, Santa Cruz (UCSC) Genome Browser. DD, developmental delay; DF, dysmorphic features; HACNS, human accelerated conserved non-coding sequence; HAR, human accelerated region; ID, intellectual disability; LD, language disability; MCA, multiple congenital anomalies; SD, seizure disorder. Figure adapted from [17].