EML4/ALK Fusion Gene Variant 3a

Preferred Label : EML4/ALK Fusion Gene Variant 3a;

NCIt synonyms : EML4-ALK Fusion Gene Variant 3a; Transforming Fusion Gene EML4-ALK Variant 3a; EML4-ALK Variant 3 Splicing Isoform a Fusion Gene; EML4::ALK Fusion Gene Variant 3a;

NCIt definition : A fusion gene ( 2.5 kb) that results from a chromosomal inversion inv(2)(p21p23) which fuses exon 6a 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.;

GenBank Accession Number : AB374361;

Details

Origin ID

C99727;

UMLS CUI

C3274882;

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
- EML4/ALK Fusion Protein Variant 3a [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lung Adenocarcinoma [NCIt concept]
gene_plays_role_in_process
- Tyrosine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- ALK Gene [NCIt concept]
- EML4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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