JAZF1/SUZ12 Fusion Gene

Preferred Label : JAZF1/SUZ12 Fusion Gene;

NCIt synonyms : JAZF1/JJAZ1 Fusion Gene; JJAZ1/JAZF1 Fusion Gene; JAZF1-SUZ12 Fusion Gene; JAZF1-JJAZ1 Fusion Gene; JAZF1::SUZ12 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(7;17)(p15;q21) that fuses the first 3 exons of the JAZF1 gene to the last 15 exons of the SUZ12 gene. This rearrangement is associated with endometrial stromal neoplasms.;

Details

Origin ID

C99707;

UMLS CUI

C2676350;

Automatic exact mappings (from CISMeF team)
- Jazf zinc finger 1 [OMIM gene]
- Suz12 polycomb repressive complex 2 subunit [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
- JAZF1/SUZ12 Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- JAZF1-SUZ12 Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Endometrial Stromal Nodule [NCIt concept]
- Uterine Corpus Low Grade Endometrial Stromal Sarcoma [NCIt concept]
gene_mapped_to_disease
- Endometrial Stromal Nodule [NCIt concept]
- Uterine Corpus Low Grade Endometrial Stromal Sarcoma [NCIt concept]
gene_plays_role_in_process
- Negative Regulation of Apoptosis [NCIt concept]
related_to_genetic_biomarker
- JAZF1 Gene [NCIt concept]
- SUZ12 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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