Fig. 2

Schematic representation of the ANK3::RET fusion event. (A) Chromosomal locations of the breakpoints within chromosome 10 leading to the fusion of the genes ANK3 and RET genes. Breakpoint 1 (chr10:61865663; reference genome: hg19) occurs after exon 28 of ANK3, and breakpoint 2 (chr10:43595907) before exon 2 of RET. (B) Domain structure of the fusion protein, with the ANK3 gene contributing its ankyrin repeats and ZU5 domain, fused to the RET gene with intact cadherin and protein kinase domains. The resulting chimeric protein retains key functional domains from both original proteins. Both visualizations were created using the gene fusion detection tool Arriba [15]