GUK1 was selected because it is one of the most significant differential alternative spliced exon reported by rMATS. From rMATS analysis (Figure 4.12A), in two groups of tissue comparison, heart vs. liver and brain vs. liver, GUK1 shows significantly alternative spliced of exon 2. In figure 4.12B shows the Vials visualisation GUK1 of human transcriptome from brain, heart, and liver from Illumina BodyMap 2.0 data. The visualisation shows all isoform, isoform abundance views, expression views, junction views are shown for selected tissue. In this view, the expression level shows as transcript per million (TPM) and the highest isoforms expressed in brain (blue) is ENST00000453943, heart (orange) is ENST00000312726 and liver (green) is ENST00000391865. The sashimi plot shows the quantitative visualisation of the RNA-seq read alignment of brain, heart and liver together with the gene expression shows in FPKM value (Figure 4.12C). The junctions show by the arcs that align from one exon to another exon. The visualisation of read alignment with the gene model on the bottom of the plot can be …show more content…
The network revealed that there were essentially two major isoform expressed in this tissue (ENST00000453943) contains exon 1b, 3, 4, 5, 6, 7,8 and 9 (truncated) and (ENST00000312726) contains exon 1b, 2, 3, 4, 5, 6, 7, 8 and 9. However, there appeared to be evidence of four minor isoforms which were two proteins coding (ENST00000366730 and ENST00000412265) and two processed transcripts (ENST00000469973 and ENST00000498092) expressed in this tissue. All these four minor isoforms can be visualised from the small branch nodes emerging out from the network. GUK1 gene in brain tissue contains exon 1a, 1b, 1c, 2, 3, 4, 5, 6, 7, 8 and 9, and it supports the brain network structure. In this network, the truncated exon 9 can be visualised at the end of the network shows a thin