CIC/DUX4 Fusion Gene

Preferred Label : CIC/DUX4 Fusion Gene;

NCIt synonyms : CIC-DUX4 Fusion Gene; Capicua Homolog (Drosophila)/Double Homeobox 4 Fusion Gene; Capicua Transcriptional Repressor/Double Homeobox 4 Fusion Gene; t(4;19)/CIC-DUX4 Fusion Gene; CIC::DUX4 Fusion Gene;

NCIt related terms : CIC-DUX4;

NCIt definition : A fusion gene that results from a chromosomal translocation t(4;19)(q35;q13) which fuses exon 20 of the CIC gene to exon 1 of the DUX4 gene. This fusion is associated with soft tissue sarcoma.;

NCIt note : There is some conflicting information in the literature and various molecular genetic databases regarding whether the CIC gene fusion partner is the DUX4 gene or its nearby pseudogene, DUX4L1.;

NCI Metathesaurus CUI : CL537854;

Details

Origin ID

C139663;

UMLS CUI

C4682434;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
gene_encodes_gene_product
- CIC/DUX4 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(4;19)(q35;q13) [NCIt concept]
gene_involved_in_molecular_abnormality
- CIC-DUX4 Fusion Protein Expression [NCIt concept]
- t(4;19)(q35;q13) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- CIC-DUX4 Sarcoma [NCIt concept]
gene_mapped_to_disease
- CIC-DUX4 Sarcoma [NCIt concept]
related_to_genetic_biomarker
- CIC Gene [NCIt concept]
- DUX4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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