NCIt definition : A fusion gene that results from the a chromosomal rearrangement that fuses exon 5
or 6 of the YAP1 gene, located at 11q22.1, in frame to exon 2 or 3 of the MAMLD1 gene,
located at Xq28. This fusion is associated with supratentorial ependymoma.;
NCIt note : A protein product of the YAP1/MAMLD1 fusion gene has not been detected in tumor samples.
However, the fusion gene product appears to decouple transcriptional coactivator YAP1
activity from regulation by the hippo pathway kinases, LATS1 and LATS2, which are
located in the cytoplasm. It is theorized that the fusion protein remains in the nucleus
because of the presence of a nuclear localization signal (NLS) near the C-terminus
of mastermind-like domain-containing protein 1. (Nat Commun. 2019; 10:3914.);
Semantic type(s)