BCR wt Allele - CISMeF

Preferred Label : BCR wt Allele;

NCIt synonyms : ALL; CML; PHL; D22S662; D22S11; BCR1; Breakpoint Cluster Region Gene; BCR, RhoGEF and GTPase Activating Protein wt Allele;

NCIt definition : Human BCR wild-type allele is located in the vicinity of 22q11.23 and is approximately 138 kb in length. This allele, which encodes breakpoint cluster region protein, is involved in promoting the activating exchange of GTP for GDP bound by p21rac or CDC42. The BCR gene forms fusion genes with ABL1 or FGFR1 in chronic myeloid leukemia (CML) and with PDGFRA in a CML-like myeloproliferative disease. The BCR-ABL fusion gene is found in acute myeloid leukemia and acute lymphoblastic leukemia.;

GenBank Accession Number : NM_004327;

Details

Origin ID

C51193;

UMLS CUI

C1704799;

False automatic mappings
- All [HPO term]
- All members of set (qualifier value) [SNOMED CT concept]
- Chronic myeloid leukemia [ORDO Disease]
- GO top tree [GO term]
- Universal restriction modifier (core metadata concept) [SNOMED CT concept]
- all [Radlex concept]
OMIM relation
- Bcr activator of rhogef and gtpase [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_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 22: 21847106-21982698 [NCIt concept]
gene_in_chromosomal_location
- 22q11.23 [NCIt concept]
gene_is_element_in_pathway
- Chronic Myeloid Leukemia Pathway [NCIt concept]
- Inhibition of Cellular Proliferation by Gleevec Pathway [NCIt concept]
- Integrin Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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