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Translocations Overview Page
Explanation of Inferred Breakpoints and Observed mRNA Transcripts
Many papers determine fusions between genes using expression technologies, such as RT-PCR. A number of these studies have identified more than one transcript per sample, some finding over four different products between the same gene pair in one tumour. This implies significant alternative splicing of the mRNAs expressed from the fused gene pair. In order to simplify this data for display and navigation, we have inferred the position of the genomic breakpoint from the experimental data whilst maintaining the original results.
To do this, it has been assumed that each sample's breakpoint lies between the most 3' expressed exon of the 5' gene and the most 5' exon of the 3' gene, from the mRNAs reported in that sample. For instance, in sample 1038776 , four mRNAs were reported:
This was reduced to one inferred breakpoint, between TMPRSS2 r.365 and ERG r.36;
In the display, the 'Inferred breakpoint' section is the breakpoint position we have determined using the rule above, and the 'Observed mRNAs' are the expressed products actually reported as the results of experimental procedures. A single inferred breakpoint can allow the expression of a number of gene fusion mRNA variants, as above. However, additionally, a single observed mRNA can, between samples, be derived from a number of different breakpoints.
Fusion mutation 25 has been observed in samples with 9 different breakpoints as inferred by the spectrum of their expressed fusion mRNAs
Inferred Breakpoints Table
The table below displays a list of all the Inferred Breakpoint mutations defined for this gene pair, with explanations of the data:
Observed mRNA Transcripts
The diagram below represents all the observed mRNA transcripts
for eack of the inferred breakpoints. The images in the website
are clickable, linking to the mutation details page for that
fusion mutation (more details):
The details section provides information of the number of
samples that were analysed in all the curated papers, and the
number and percentage of those that contained mutations in this
gene pair, for the tissue tested. The 'More Details' links display
further information, and allow export of the data:
Shows the total number of references that have been curated
for this fusion gene pair. Clicking 'Publications' will
display a list of all the references, with their current status,
and links to pubmed.
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