ETV6/RUNX1 Fusion Gene

Preferred Label : ETV6/RUNX1 Fusion Gene;

NCIt synonyms : TEL/AML1 Fusion Gene; TEL/AML1 Chimeric Gene; ETV6/AML1 Fusion Gene; AML1/TEL Fusion Gene; ETV6-RUNX1 Fusion Gene; TEL-AML1 Oncogene; ETV6-AML1 Fusion Gene; ETV6::RUNX1 Fusion Gene;

NCIt related terms : TEL-AML 1;

NCIt definition : A fusion gene that results from a chromosomal translocation t(12;21)(p13;q22) which fuses intron 5 of the ETV6 gene with intron 2 of the RUNX1 gene. This gene fusion is associated with B-cell lymphoblastic leukemia/lymphoma.;

GenBank Accession Number : NM_001754; NM_001987;

Details

Origin ID

C18517;

UMLS CUI

C0919449;

Automatic exact mappings (from CISMeF team)
- Ets variant transcription factor 6 [OMIM gene]
- Runt-related transcription factor 1 [OMIM gene]
OMIM relation
- Ets variant transcription factor 6 [OMIM gene]
- Runt-related transcription factor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- ETV6/RUNX1 Fusion Protein [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- t(12;21)(p13.2;q22.1) [NCIt concept]
gene_involved_in_molecular_abnormality
- ETV6-RUNX1 Fusion Protein Expression [NCIt concept]
- t(12;21)(p13.2;q22.1) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 [NCIt concept]
gene_is_biomarker_of
- B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 [NCIt concept]
gene_mapped_to_disease
- B Acute Lymphoblastic Leukemia with t(12;21)(p13.2;q22.1); ETV6-RUNX1 [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 [NCIt concept]
gene_plays_role_in_process
- Transcriptional Regulation [NCIt concept]
- Tumorigenesis [NCIt concept]
genetic_biomarker_related_to
- t(12;21)(p13;q22.3)(ETV6/RUNX1) Fusion Transcript in Blood or Tissue by FISH [NCIt concept]
related_to_genetic_biomarker
- ETV6 Gene [NCIt concept]
- RUNX1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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