TCF3/PBX1 Fusion Gene

Preferred Label : TCF3/PBX1 Fusion Gene;

NCIt synonyms : TCF3-PBX1 Fusion Gene; E2A-PBX1 Fusion Gene; E2A/PBX1 Fusion Gene; PBX1/E2A Fusion Gene; E2A-PBX1 Translocation Mutation; E2A-PBX1 Fusion Mutation; TCF3::PBX1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(1;19)(q23;p13) which fuses intron 13 of the TCF3 gene with exon 2 of the PBX1 gene. This rearrangement is associated with pre-B cell acute lymphoblastic leukemia.;

Details

Origin ID

C99291;

UMLS CUI

C1867800;

Automatic exact mappings (from CISMeF team)
- Pre-b-cell leukemia transcription factor 1 [OMIM gene]
- Transcription factor 3 [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
- TCF3/PBX1 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(1;19)(q23;p13.3) [NCIt concept]
gene_involved_in_molecular_abnormality
- TCF3-PBX1 Fusion Protein Expression [NCIt concept]
- t(1;19)(q23;p13.3) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- B Lymphoblastic Leukemia/Lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 [NCIt concept]
gene_mapped_to_disease
- B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1 [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
genetic_biomarker_related_to
- t(1;19)(q23.3;p13.3)(PBX1/TCF3) Fusion Transcript in Blood or Tissue by FISH [NCIt concept]
related_to_genetic_biomarker
- PBX1 Gene [NCIt concept]
- TCF3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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