Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution
Figure 1
Schematic of the AUTS2 genomic region.
Human accelerated sequences are shown as blue lines above the gene [17]–[19]. Structural variants [4]–[12], [14], [15] are represented as colored lines (red: deletion, orange: inversion, green: duplication, purple: translocation). The rs6943555 SNP associated with alcohol consumption [16] is shown as a magenta star. 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 UCSC Genome Browser [52]. Numbers to the left of the lines correspond to a reference number. Human Accelerated Conserved Non-coding Sequence (HACNS), Human Accelerated Region (HAR), developmental delay (DD), intellectual disability (ID), dysmorphic features (DF), seizure disorder (SD), multiple congenital anomalies (MCA), language disability (LD).