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. Author manuscript; available in PMC: 2017 Feb 28.
Published in final edited form as: Nat Genet. 2016 Aug 29;48(10):1185–1192. doi: 10.1038/ng.3661

Fig. 2. Schematic of chromosome 17p13.1 and SNORD118.

Fig. 2

(a) Genes across chromosome 17p13.1 between 8,075,000 and 8,155,000 are drawn to scale (numbered according to GRCh37). Protein encoding genes are represented in black text, whilst non-protein encoding genes (including SNORD118) are annotated in purple. SNORD118 lies within the 3’ UTR of TMEM107 and 50 kb from CTC1. (b) Positions of variants identified in SNORD118. Green box represents mature SNORD118. From 5’ to 3’, the orange boxes highlight the distal (DSE) and proximal (PSE) sequence elements. From 5’ to 3’, the C box, LSm and D box binding sites of SNORD118 are shown by the red boxes. The violet box represents the 3’ box (end of precursor transcript). The blue line represents the sequence encompassing the 3’ precursor transcripts of SNORD118 which are intermediates of the mature transcript. Variants that have been seen on the ExAC browser are shown above the box, with novel variants not seen on ExAC shown below. The number of LCC families with each variant is shown in brackets. Deletions and duplications are represented by blue boxes beneath the schematic. # In F344, both of these rare variants were seen in the homozygous state. However, n.8G>C was also observed in F278, suggesting that this is the likely pathogenic variant.