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- NCIT_C186356 IAO_0000115 "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." @default.
- NCIT_C186356 NCIT_A13 NCIT_C186643 @default.
- NCIT_C186356 NCIT_A13 NCIT_C96030 @default.
- NCIT_C186356 NCIT_NHC0 "C186356" @default.
- NCIT_C186356 NCIT_P106 "Gene or Genome" @default.
- NCIT_C186356 NCIT_P108 "YAP1/MAMLD1 Fusion Gene" @default.
- NCIT_C186356 NCIT_P208 "CL1778543" @default.
- NCIT_C186356 NCIT_P98 "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.)" @default.
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- NCIT_C186356 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C186356 referenceCount "2" @default.
- NCIT_C186356 hasExactSynonym "YAP1-MAMLD1 Fusion Gene" @default.
- NCIT_C186356 hasExactSynonym "YAP1/MAMLD1 Fusion Gene" @default.
- NCIT_C186356 hasExactSynonym "YAP1::MAMLD1 Fusion Gene" @default.
- NCIT_C186356 hasExactSynonym "Yes1 Associated Transcriptional Regulator-Mastermind Like Domain Containing 1 Fusion Gene" @default.
- NCIT_C186356 hasExactSynonym "Yes1 Associated Transcriptional Regulator/Mastermind Like Domain Containing 1 Fusion Gene" @default.
- NCIT_C186356 type Class @default.
- NCIT_C186356 isDefinedBy ncit.owl @default.
- NCIT_C186356 label "YAP1/MAMLD1 Fusion Gene" @default.
- NCIT_C186356 subClassOf B2d58108ef5fa5484d17167a5204b3b70 @default.
- NCIT_C186356 subClassOf B6045360e5cdd54b2c8140365f246f459 @default.
- NCIT_C186356 subClassOf NCIT_C16612 @default.
- NCIT_C186356 subClassOf NCIT_C186356 @default.
- NCIT_C186356 subClassOf NCIT_C28510 @default.