EWSR1/PATZ1 Fusion Gene Short Isoform

Preferred Label : EWSR1/PATZ1 Fusion Gene Short Isoform;

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

NCIt definition : A fusion gene ( 1.9 kb) 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.;

GenBank Accession Number : AF254086;

Details

Origin ID

C99239;

UMLS CUI

C3274629;

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 Short Isoform [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
gene_involved_in_pathogenesis_of_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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