EML4/ALK Fusion Gene

Preferred Label : EML4/ALK Fusion Gene;

NCIt synonyms : ALK/EML4 Fusion Gene; EML4-ALK Fusion Gene; Transforming Fusion Gene EML4-ALK; EML4/ALK Gene Rearrangement; EML4-ALK Inversion; EML4-ALK Gene Rearrangement; EML4/ALK Inversion; EML-4 ALK Translocation; EML-ALK Translocation; EML4-ALK Translocation; EML4/ALK Translocation; EML4/ALK Gene Mutation; EML4/ALK Mutation; EML4::ALK Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal inversion inv(2)(p21p23) which fuses the 5' portion of the EML4 gene with exons 20-29 of the ALK gene. This fusion is associated with non-small cell lung cancer. Multiple transcript variants are possible based on the breakpoint for the EML4 gene.;

Détails

Origin ID

C99724;

UMLS CUI

C1412993;

Automatic exact mappings (from CISMeF team)
- Alk receptor tyrosine kinase [OMIM gene]
- Echinoderm microtubule-associated protein-like 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EMAP like 4 [HGNC gene]
- Echinoderm microtubule-associated protein-like 4 [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- EML4/ALK Fusion Protein [NCIt concept]
- EML4/ALK Fusion Protein Variant 1 [NCIt concept]
- EML4/ALK Fusion Protein Variant 2 [NCIt concept]
- EML4/ALK Fusion Protein Variant 3a [NCIt concept]
- EML4/ALK Fusion Protein Variant 3b [NCIt concept]
- EML4/ALK Fusion Protein Variant 4 [NCIt concept]
- EML4/ALK Fusion Protein Variant 5a [NCIt concept]
- EML4/ALK Fusion Protein Variant 5b [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating EML4/ALK Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- ALK-Positive Lung Non-Small Cell Carcinoma [NCIt concept]
gene_mapped_to_disease
- ALK-Positive Lung Non-Small Cell Carcinoma [NCIt concept]
gene_plays_role_in_process
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- EML4/ALK Fusion Negative [NCIt concept]
related_to_genetic_biomarker
- ALK Gene [NCIt concept]
- EML4 Gene [NCIt concept]

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