KAT6A/CREBBP Fusion Gene

Preferred Label : KAT6A/CREBBP Fusion Gene;

NCIt synonyms : MOZ-CBP Fusion Gene; CBP/MOZ Fusion Gene; MOZ/CBP Fusion Gene; MYST3-CREBBP Fusion Gene; KAT6A-CREBBP Fusion Gene; MYST3/CREBBP Fusion Gene; KAT6A::CREBBP Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(8;16)(p11;p13) which fuses the 5' portion of the KAT6A gene to most of the coding region of the CREBBP gene. This rearrangement is associated with acute myeloid leukemia.;

Details

Origin ID

C99497;

UMLS CUI

C1838593;

Automatic exact mappings (from CISMeF team)
- Creb-binding protein [OMIM gene]
- Lysine acetyltransferase 6a [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_encodes_gene_product
- KAT6A/CREBBP Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- t(8;16)(p11.2;p13.3) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with KAT6A-CREBBP [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with KAT6A-CREBBP [NCIt concept]
related_to_genetic_biomarker
- CREBBP Gene [NCIt concept]
- KAT6A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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