A LoF variant within the zinc finger and SCAN domain containing nine loci in GENCODE. The ZSCAN9 protein-coding gene contains eight transcripts in GENCODE v16, four of which are omitted here for clarity. 5′ UTR variation has also been omitted in the transcripts shown, and exon sizes are not to scale. Annotated CDSs are highlighted in green, UTRs in red. Transcript A appears to be the major spliceform of the locus based on transcriptomics data (not shown). The putative CDS annotation of transcript B was prompted by the identification of polyadenylation features marking a genuine transcript end point (aaaa). Transcripts C and D contain a cassette exon sharing the same splice donor site (3′ edge), although with differing splice acceptor sites (5′ edge). The larger form of this exon in transcript D contains a LoF variant identified by MacArthur and colleagues within 1000 Genomes Project pilot phase data (filled triangle) (MacArthur et al. 2012); the variant is a C/T change that creates an in-frame premature termination codon (PTC).
