Figure 4

Variation image. A. The variation image in the gene tab shows all transcripts for an Ensembl gene in red, and variations mapping to each transcript as coloured boxes. Intronic variants are, by default, only drawn if within 100 bp of an exon. Change this by clicking on configure this page and selecting full introns. Protein domains and motifs encoded by the transcript sequence from databases such as PIR-Superfamily, PROSITE and Pfam are drawn in purple along each transcript. B. An expanded view of the box drawn in A is shown. Label 1 indicates the exon structure of Ensembl transcript ENST00000359785. Filled boxes are coding sequence within the exons, and unfilled boxes indicate untranslated regions (UTRs). Variations are indicated by label 2, and are colour-coded as to their effect on the transcript (see legend on the page). For this transcript, many intronic (dark blue) variations are shown, along with four non-synonymous (yellow) SNPs that display the potential amino acids at each position. Label 3 indicates a PIR-Superfamily domain (purple) that maps to the protein sequence. http://Mar2010.archive.ensembl.org/Homo_sapiens/Gene/Variation_Gene?db=core;g=ENSG00000134242;r=1:114356437-114414375;t=ENST00000359785.