BIRC3/MALT1 Fusion Gene

Preferred Label : BIRC3/MALT1 Fusion Gene;

NCIt synonyms : API2-MLT Fusion Gene; API2/MALT1 Fusion Gene; MALT1/API2 Fusion Gene; API2-MALT1 Fusion Gene; BIRC3-MALT1 Fusion; API2/MLT Fusion Gene; BIRC3::MALT1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(11;18)(q21;q21) which fuses the 5' portion of the BIRC3 gene to the 3' portion of the MALT1 gene. This rearrangement is associated with extra-nodal presentation of marginal zone B-cell lymphoma.;

NCIt note : Multiple BIRC3/MALT1 fusion genes exist that differ in the locations of their MALT1 gene breakpoints. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C99875;

UMLS CUI

C3148863;

Automatic exact mappings (from CISMeF team)
- Baculoviral iap repeat-containing protein 3 [OMIM gene]
- Malt1 paracaspase [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
- BIRC3/MALT1 Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- API2-MLT Fusion Protein Expression [NCIt concept]
- t(11;18)(q21;q21) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Gastric Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Lung Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
gene_mapped_to_disease
- Campylobacter Jejuni-Associated Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Gastric Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Helicobacter Pylori-Associated Gastric Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Lung Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
genetic_biomarker_related_to
- t(11;18)(q21;q21)(BIRC3/MALT1) Fusion Transcript in Blood or Tissue by FISH [NCIt concept]
related_to_genetic_biomarker
- BIRC3 Gene [NCIt concept]
- MALT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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