Fusion Summary

This tab shows a general summary for the selected fusion inferred or observed breakpoint and a graphic describing the exon structure.

  1. Mutation Id - COSMIC mutation id for this mutation.
  2. Type - Type can be either "Inferred Breakpoint" or "Observed mRNA". Explanation of the two terms can be found in the Fusion Overview help page.
  3. Translocation Name - Syntax describing the portions of mRNA present (in HGVS "r." format) from each gene (allows representation of UTR sequences).
  4. Gene Name - Lists the genes involved in the fusion. Each gene name is a clickable link to the gene overview page for that gene.
  5. Fusion Transcript Structure - Diagramatic representation of the selected mutation which can either be an Inferred Breakpoint or Observed mRNA. Shows the transcripts of each of the 2 genes (in red and blue) aligned with the transcript resulting from the fusion event (in the middle).

Diagram details:

Each block represents an exon and the connecting strings represent introns.

  1. Red rectangular box - represents the 5' fusion partner gene
  2. Blue rectangular box - represents the 3' fusion partner gene
  3. Empty red/blue bordered box - the UTR for the 5' or 3' gene
  4. Grey box- Orphan DNA sequence from neither transcript.
  5. Grey box with 'unknown' - represents a valid fusion but without any genomic coordinate information

Some example translocation descriptions:

1. Standard Fusion:

        TMPRSS2 from exon 1 (UTR) to ERG exon 2 (inclusive).

        TMPRSS2{NM_005656.2}:r.1_71_ERG{NM_004449.3}:r.38_3097


        TMPRSS2 from intron after exon 1 to intron before exon 2, intronic breakpoints known (374bp downstream of TMPRSS2 exon 1 and 54bp upstream of ERG exon 2).

        TMPRSS2{NM_005656.2}:r.1_71+374_ERG{NM_004449.3}:r.38-54_3097


        TRMPSS2 from intron after exon 5 to intron before ERG exon 3, intronic breakpoints NOT known (but remarked on in the paper).

        TMPRSS2{NM_005656.2}:r.1_71+?_ERG{NM_004449.3}:r.38-?_3097

        2. Fusion to the complimentary strand (inverted fusion):

        TMPRSS2 present in sense orientation, ERG in the antisense.

        TMPRSS2{NM_005656.2}:r.1_71_oERG{NM_004449.3}:r.38_3097


        Again, if the intronic co-ordinates are known.

        TMPRSS2{NM_005656.2}:r.1_71+374_oERG{NM_004449.3}:r.35-54_3097

        ("o" signifies antisense orientation)
      

Fusion Summary - Relative Breakpoints

This tab shows a graphic for Fusion Transcript Structures: It represents all the related breakpoints, either all the inferred breakpoints for a selected mRNA transcript mutation, or all the observed mRNA transcripts for a selected inferred breakpoint mutation.

Diagram details:

Each block represents an exon and the connecting strings represent introns.

  1. Red rectangular box - represents the 5' fusion partner gene
  2. Blue rectangular box - represents the 3' fusion partner gene
  3. Empty red/blue bordered box - the UTR for the 5' or 3' gene
  4. Grey box- Orphan DNA sequence from neither transcript.
  5. Grey box with 'unknown' - represents a valid fusion but without any genomic coordinate information

Fusion Summary - Samples

This tab shows a table listing all the samples with the specified fusion. It shows the phenotypic details of the sample analysed with links to the Sample Overview page from the 'Sample Name' column, and to the Tissue Overview page from the 'Primary Tissue' column. This table also provides the ability to search, sort and export the table in csv or tsv format.

Help Index