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Translocation Summary

  • Welcome to the translocation summary page. This page is used to display details of a selected translocation/gene fusion mutation event.
Mutation ID

COSMIC mutation id for this mutation. Can search by mutation id on COSMIC homepage.


 

Type

Type can be either "Inferred Breakpoint" or "Observed mRNA". Explanation of the two terms can be found in the Translocation Overview help page.


 

Translocation Name

Syntax format describing the portions of mRNA PRESENT (in HGVS "r." format) from each gene (allows representation of UTR sequences). This is a one line syntax, explanation and examples below:





Using TMPRSS2/ERG as an example.


 

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 (flipped 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)



Genes Affected

Lists the genes involved in the fusion. Each gene name is a clickable link to the Gene Summary page for that gene


 

Inferred Breakpoint/Observed mRNA

Diagramatic representation of the selected mutation. Can either be 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)


 


 

Observed mRNA(s)/Inferred Breakpoint(s)

Diagramatic representation of either all the inferred breakpoints for a selected mRNA transcript mutation, or as in this case, all the observed mRNA transcripts for a selected inferred breakpoint mutation


 

Samples

List of all the samples with fusions of this mutation type (mutation ID), with links to the Sample Summary Sample Summary page, and also to the Tissue Overview page.


 

Any More Questions?