BCR
Primary Author(s)*
Brian Davis, PhD
Synonyms
BCR, RhoGEF and GTPase activating protein; Breakpoint Cluster Region; BCR1; ALL; CML; PHL; D22S11; D22S662
Genomic Location
Cytoband: 22q11.23
Genomic Coordinates:
GRCh38.p12 23180365..23318037
Cancer Category/Type
Chronic Myeloid Leukemia (Chronic Myelogenous Leukemia)
Acute Lymphoid Leukemia
Gene Overview
The function of the normal BCR gene product is as a GTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. The protein has serine/threonine kinase activity. (1)
Mention that is haas coiled coil domain and prob. aggregates as Fusion BRC-ABL1.
Common Alteration Types
Put your text here and/or fill in the table with an X where applicable
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X |
Internal Pages
Put your text here
External Links
Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.
EXAMPLES
BCR by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
BCR by COSMIC - sequence information, expression, catalogue of mutations
BCR-ABL1 by CIViC - general knowledge and evidence-based variant specific information
BCR by St. Jude ProteinPaint mutational landscape and matched expression data.
BCR by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
BCR by Cancer Index - gene, pathway, publication information matched to cancer type
BCR-ABL1 by OncoKB - mutational landscape, mutation effect, variant classification
BCR by My Cancer Genome - brief gene overview
BCR by UniProt - protein and molecular structure and function
BCR by Pfam - gene and protein structure and function information
BCR by GeneCards - general gene information and summaries
References
EXAMPLE Book
- Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
EXAMPLE Journal Article
- Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.