BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F359V

Preferred Label : BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F359V;

NCIt synonyms : BCR/ABL1 Phe359Val Mutation; BCR-ABL1 Phe359Val Mutation; BCR/ABL Fusion Protein with F359V; BCR/ABL1 Fusion Protein with NP_005148.2:p.F359V; BCR-ABL F359V Mutation; BCR/ABL F359V Mutation; BCR/ABL1 F359V Mutation; BCR-ABL1 F359V Mutation; BCR-ABL Phe359Val Mutation; BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.Phe359Val; BCR/ABL Fusion Protein with Phe359Val; BCR/ABL1 Fusion Protein with NP_005148.2:p.Phe359Val; BCR/ABL Phe359Val Mutation; BCR::ABL1 Fusion Protein with ABL1 NP_005148.2:p.F359V;

NCIt related terms : F359V;

NCIt definition : A fusion protein encoded by the BCR/ABL1 fusion gene with ABL1 NM_005157.4:c.1075T G mutation. This protein is comprised of the N-terminus of the breakpoint cluster region protein fused to almost the entire tyrosine-protein kinase ABL1 protein where the phenylalanine at position 359 of the ABL1 protein has been replaced by valine.;

NCIt note : The position of the amino acid substitution is denoted by its location in the tyrosine-protein kinase ABL1 protein sequence (NCBI Reference Sequence: NP_005148.2) and not its location in the fusion protein.;

NCI Metathesaurus CUI : CL513781;

Details

Origin ID

C130223;

UMLS CUI

C4329416;

Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
gene_encodes_gene_product
- BCR/ABL1 Fusion Gene [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1075T>G Mutation [NCIt concept]
- Fusion Gene [NCIt concept]
- Oncogene [NCIt concept]
gene_product_plays_role_in_biological_process
- Signal Transduction [NCIt concept]
- Tumorigenesis [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- ABL1 Gene [NCIt concept]
- BCR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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