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- NCIT_C99238 IAO_0000115 "A fusion gene that results from a chromosomal inversion inv(22)(q12q12) which fuses the first eight exons of the EWSR1 gene with the PATZ1 gene. This rearrangement is associated with Ewing tumor/peripheral primitive neuroectodermal tumor." @default.
- NCIT_C99238 NCIT_A13 NCIT_C18322 @default.
- NCIT_C99238 NCIT_A13 NCIT_C97876 @default.
- NCIT_C99238 NCIT_NHC0 "C99238" @default.
- NCIT_C99238 NCIT_P106 "Gene or Genome" @default.
- NCIT_C99238 NCIT_P107 "EWSR1/PATZ1 Fusion Gene" @default.
- NCIT_C99238 NCIT_P108 "EWSR1/PATZ1 Fusion Gene" @default.
- NCIT_C99238 NCIT_P207 "C1854595" @default.
- NCIT_C99238 NCIT_P322 "CTRP" @default.
- NCIT_C99238 NCIT_P98 "The EWSR1/PATZ1 fusion gene also arises in a complex rearrangement where inversion of 22q12 is followed by a translocation t(1;22)(p34;q12) that disrupts the UQCRH gene. PCR analysis of tumor cDNA and genomic DNA detected UQCRH/EWSR1, PATZ1/UQCRH and EWSR1/PATZ1 fusion transcripts. The UQCRH containing fusion genes produced out-of-frame transcripts containing premature stop codons. (OMIM)" @default.
- NCIT_C99238 NCIT_R132 NCIT_C179848 @default.
- NCIT_C99238 NCIT_R132 NCIT_C2950 @default.
- NCIT_C99238 NCIT_R132 NCIT_C3420 @default.
- NCIT_C99238 NCIT_R132 NCIT_C36541 @default.
- NCIT_C99238 NCIT_R132 NCIT_C3910 @default.
- NCIT_C99238 NCIT_R175 NCIT_C178459 @default.
- NCIT_C99238 NCIT_R175 NCIT_C178461 @default.
- NCIT_C99238 NCIT_R175 NCIT_C27551 @default.
- NCIT_C99238 NCIT_R175 NCIT_C27574 @default.
- NCIT_C99238 NCIT_R175 NCIT_C2991 @default.
- NCIT_C99238 NCIT_R175 NCIT_C3262 @default.
- NCIT_C99238 NCIT_R175 NCIT_C3263 @default.
- NCIT_C99238 NCIT_R175 NCIT_C3746 @default.
- NCIT_C99238 NCIT_R175 NCIT_C3810 @default.
- NCIT_C99238 NCIT_R175 NCIT_C7057 @default.
- NCIT_C99238 NCIT_R175 NCIT_C7062 @default.
- NCIT_C99238 NCIT_R175 NCIT_C9118 @default.
- NCIT_C99238 NCIT_R175 NCIT_C9305 @default.
- NCIT_C99238 normalizedInformationContent "84.76342111748103" @default.
- NCIT_C99238 referenceCount "10" @default.
- NCIT_C99238 hasExactSynonym "EWS-ZNF278 Fusion Gene" @default.
- NCIT_C99238 hasExactSynonym "EWS-ZSG Fusion Gene" @default.
- NCIT_C99238 hasExactSynonym "EWS/ZNF278 Fusion Gene" @default.
- NCIT_C99238 hasExactSynonym "EWS/ZSG Fusion Gene" @default.
- NCIT_C99238 hasExactSynonym "EWSR1-PATZ1 Fusion Gene" @default.
- NCIT_C99238 hasExactSynonym "EWSR1/PATZ1 Fusion Gene" @default.
- NCIT_C99238 hasExactSynonym "EWSR1::PATZ1 Fusion Gene" @default.
- NCIT_C99238 inSubset NCIT_C116977 @default.
- NCIT_C99238 inSubset NCIT_C142799 @default.
- NCIT_C99238 inSubset NCIT_C142800 @default.
- NCIT_C99238 type Class @default.
- NCIT_C99238 isDefinedBy ncit.owl @default.
- NCIT_C99238 label "EWSR1/PATZ1 Fusion Gene" @default.
- NCIT_C99238 subClassOf B11f4f988a62d362bbe722d7f7577efcc @default.
- NCIT_C99238 subClassOf B7cb1689911b73b16b4ac16e24fdd310f @default.
- NCIT_C99238 subClassOf NCIT_C16612 @default.
- NCIT_C99238 subClassOf NCIT_C201195 @default.
- NCIT_C99238 subClassOf NCIT_C28510 @default.
- NCIT_C99238 subClassOf NCIT_C99238 @default.