Gene Fusion

Definition and Information Model

Warning

This data class is at a draft maturity level and may change significantly in future releases. Maturity levels are described in the GKS Maturity Model.

Computational Definition

A representation of the joining of two genes resulting in a chimeric transcript and/or novel interaction between a rearranged regulatory elements with the expression of a partner gene product (a regulatory fusion).

Information Model

A GeneFusion is a Categorical Variant with at least one constraint:

  1. An Adjacency Constraint with the adjoinedElements array containing either an iriReference, MappableConcept, Location, or an UnspecifiedElement as elements.

Examples

The following are example implementations of that satisfy the Gene Fusion recipe:

BCR(ncbi:613)::ABL1(ncbi:25)
v::NTRK1(hgnc:8031)
?::ZNF384(ncbi:171017)
FGFR2(hgnc:3689)::v

Implementation Guidance