Fig. 1

Genomic structure and distribution of variants in ZNF292. Most of the identified variants in ZNF292 are truncating (frameshift, nonsense) located within the largest and most terminal exon (8) of the gene that encodes a ZNF292 DNA binding domain. Several of these variants lie within zinc finger regions (depicted in gray) and coiled coil domains (depicted in pink) upstream of the nuclear localization signal (NLS, depicted in black). The complementary DNA (cDNA) panel shows the coding and noncoding regions of the gene (in blue and yellow, respectively). The bottom panel shows the predicted protein domains including the zinc finger (C2H2 type) regions (shown in gray), the coiled coil domain (pink), and the nuclear localization signal (black). ZNF292 variants in the main cohort are shown, color-coded by type with nonsense variants shown in yellow and frameshift variants in green. C-terminal coiled coil regions were calculated using multicoil2 (http://cb.csail.mit.edu/cb/multicoil2/cgi-bin/multicoil2.cgi),¹⁶ and NLS regions were mapped using cNLS mapper (http://nls-mapper.iab.keio.ac.jp/cgi-bin/NLS_Mapper_form.cgi).¹⁵