BCOR/MAML3 Fusion Gene

Preferred Label : BCOR/MAML3 Fusion Gene;

NCIt synonyms : BCOR-MAML3 Fusion Gene; BCOR::MAML3 Fusion Gene;

NCIt related terms : BCOR-MAML3;

NCIt definition : A fusion gene that results from a chromosomal translocation t(X;4)(p11;q31) which fuses part of exon 15 of the BCOR gene in frame with exon 2 of the MAML3 gene. This fusion is associated with undifferentiated small blue round cell sarcomas.;

NCI Metathesaurus CUI : CL1412037;

PubMed : 26752546;

Details

Origin ID

C174487;

UMLS CUI

C5420803;

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
- BCOR/MAML3 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(X;4)(p11;q31) [NCIt concept]
gene_involved_in_molecular_abnormality
- t(X;4)(p11;q31) [NCIt concept]
related_to_genetic_biomarker
- BCOR Gene [NCIt concept]
- MAML3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients