BCOR Final Exon Internal Tandem Duplication

Preferred Label : BCOR Final Exon Internal Tandem Duplication;

NCIt synonyms : BCOR Exon 15 ITD; BCOR Exon 16 ITD; BCL6 Co-Repressor Final Exon Internal Tandem Duplication; BCOR Final Exon ITD; MAA2 Final Exon Internal Tandem Duplication; ANOP2 Final Exon Internal Tandem Duplication; MCOPS2 Final Exon Internal Tandem Duplication; BCL6 Corepressor Final Exon Internal Tandem Duplication;

NCIt definition : A genetic abnormality that arises from tandem duplications of the exon encoding the C-terminus of the BCL-6 corepressor (BCOR) protein, which results in constitutive activation of BCOR protein and its downstream signaling pathways.;

NCIt note : The literature has referred to this exon as both exon 15 and exon 16.;

NCI Metathesaurus CUI : CL977329;

Détails

Origin ID

C164181;

UMLS CUI

C5236039;

Molecular abnormality of diseases
- Clear Cell Sarcoma of the Kidney [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome X [NCIt concept]
is_molecular_abnormality_of_disease
- BCOR ITD Sarcoma [NCIt concept]
- Central Nervous System Tumor with BCOR Internal Tandem Duplication [NCIt concept]
molecular_abnormality_involves_gene
- BCOR Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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