Figure 3
Figure 3. Genomic location of the 51 genes underlying IPDs. Circos diagram120 illustrating the location of known IPD genes across human chromosomes. Track 1: Cytoband with chromosome name with centromeres in blue. Track 2: Genomic location of 51 established IPD genes and the year in which variants in the gene were first identified as a cause of IPD in humans in brackets. Gene names in red represent genes identified by HTS. Track 3: Log10 of the number of amino acids encoded by the reference CCDS transcript. Log10 scale is indicated at 12 o’clock. Track 4: Log10 of the number of rare variants predicted to affect amino acid sequence observed in 6390 individuals enrolled to the NIHR BioResource–Rare Diseases. Log10 scale is indicated at 12 o’clock.

Genomic location of the 51 genes underlying IPDs. Circos diagram120  illustrating the location of known IPD genes across human chromosomes. Track 1: Cytoband with chromosome name with centromeres in blue. Track 2: Genomic location of 51 established IPD genes and the year in which variants in the gene were first identified as a cause of IPD in humans in brackets. Gene names in red represent genes identified by HTS. Track 3: Log10 of the number of amino acids encoded by the reference CCDS transcript. Log10 scale is indicated at 12 o’clock. Track 4: Log10 of the number of rare variants predicted to affect amino acid sequence observed in 6390 individuals enrolled to the NIHR BioResource–Rare Diseases. Log10 scale is indicated at 12 o’clock.

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