UQCRH/EWSR1 Fusion Gene

Preferred Label : UQCRH/EWSR1 Fusion Gene;

NCIt synonyms : EWS/UQCRH Fusion Gene; UQCRH/EWS Fusion Gene; UQCRH-EWSR1 Fusion Gene; UQCRH-EWS Fusion Gene; UQCRH::EWSR1 Fusion Gene;

NCIt definition : A fusion gene that results from a complex chromosomal rearrangement where inversion of 22q12 is followed by a translocation t(1;22)(p34;q12) that disrupts intron 3 of the UQCRH gene. PCR analysis of tumor cDNA and genomic DNA detected a UQCRH/EWSR1 fusion transcript but it is out-of-frame and contains premature stop codons.;

Details

Origin ID

C99865;

UMLS CUI

C3151207;

Automatic exact mappings (from CISMeF team)
- Ews rna-binding protein 1 [OMIM gene]
- Ubiquinol-cytochrome C reductase hinge protein [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_has_abnormality
- FET Family Gene Translocation [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- UQCRH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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