EWSR1/PATZ1 Fusion Gene

Preferred Label : EWSR1/PATZ1 Fusion Gene;

NCIt synonyms : EWS/ZSG Fusion Gene; EWS/ZNF278 Fusion Gene; EWS-ZSG Fusion Gene; EWS-ZNF278 Fusion Gene; EWSR1-PATZ1 Fusion Gene; EWSR1::PATZ1 Fusion Gene;

NCIt definition : 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.;

NCIt note : 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);

Details

Origin ID

C99238;

UMLS CUI

C1854595;

Automatic exact mappings (from CISMeF team)
- Ews rna-binding protein 1 [OMIM gene]
- Zinc finger protein 278 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- EWSR1/PATZ1 Fusion Protein [NCIt concept]
- EWSR1/PATZ1 Fusion Protein Long A Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Protein Long B Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Protein Short Isoform [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-PATZ1 Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Round Cell Sarcoma with EWSR1-PATZ1 Gene Fusion [NCIt concept]
gene_mapped_to_disease
- Round Cell Sarcoma with EWSR1-PATZ1 Gene Fusion [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- PATZ1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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