Gene fusions in VarSome

VarSome supports queries about gene fusions and provides the name of the fusion and a summarized view of clinically relevant information for a selected fusion through the OncoKB card.

OncoKB card is available only in VarSome Premium subscriptions.

Fusion Details card

If you include the breakpoints in your query, you will be able to see the gene symbols of the fusion partners in the Fusion Details card, along with the breakpoint coordinates for each gene.

When breakpoint information is available, a graphical representation of the fusion is also provided. This visualization illustrates the breakpoint positions within the chromosomes, their locations within each transcript, and the resulting fused product.

Fusion visualization also integrates Pfam domain annotations, with immediate view of which domains are retained, lost, or disrupted by the breakpoint.

For example: CCDC6(chr10:61665880)::RET(chr10:43612032)

OncoKB card (for VarSome Premium subscriptions only)

The card displays the OncoKB title, a variant summary icon, and key annotations including Oncogenicity, Mutation Effect, and the Therapeutic, Diagnostic, and Prognostic levels of evidence.

By clicking on the card, users can access the detailed OncoKB component, which mirrors the layout and content of the OncoKB website for the selected fusion.

Please note that you can filter the results displayed in the CKB and OncoKB cards.

- In the CKB card, you can filter the results based on APM Tier, Approval Status, Evidence Type, CAP ASCO Evidence Level, Indication, Response Type, Therapy, Polymorphism, Transforming Activity, and Drug Resistance, as shown below.

- In the OncoKB card, you can filter the results in the Therapeutic card based on Level, Alterations, Level-Associated Cancer Types, and Drugs. In the FDA-Recognized Content card, you can filter the results based on FDA Level of Evidence, Alteration, and Cancer Type.

These filters allow you to quickly narrow down the results based on the specific information you are interested in, without having to search through the entire available list.

VarSome includes information from FusionGDB database as well. This information can be retrieved when querying a gene in VarSome, e.g.:

BRAF gene

FusionGDB is the Fusion Gene annotation database, aiming to provide a resource or reference for functional annotation of fusion genes in cancer for better therapeutic targets.

VarSome shows the list of gene fusions associated to the gene of interest.

The list of related drugs and disease associations are also shown in the Fusion GDB tab: