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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:CIC-rearranged sarcoma
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Accession:DOID:0081250 term browser browse the term
Definition:An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. (DO)
Synonyms:exact_synonym: CIC-DUX SARCOMA;   Capicua transcriptional repressor (CIC)-rearranged sarcoma
 alt_id: DOID:9007982
 xref: ICDO:9367/3;   NCI:C120224


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CIC-rearranged sarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:21802064 PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Usf3 upstream transcription factor family member 3 ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar NCBI chr11:56,470,738...56,529,736
Ensembl chr11:56,476,122...56,529,884 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      cancer 5509
        cell type cancer 3760
          sarcoma 286
            small cell sarcoma 4
              EWSR1-negative small round cell tumor 3
                CIC-rearranged sarcoma 3
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