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Line 7: − Put your text here+ − − EXAMPLE: Tumor protein p53, ''LFS1, p53, BCC7, TRP53'' − + − Put your text here + − EXAMPLE: chr17:7,571,720-7,590,868 [hg19]+ − EXAMPLE: chr17:7,668,402-7,687,538 [hg38]+ − ==Cancer Category/Type==+ − AML+ − − Put your text here.+ − Put your text here and/or fill in the table with an X where applicable+ + + Line 55:
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→External Links
==Synonyms==
==Synonyms==
"Core-Binding Factor Beta Subunit"; CBF-Beta; PEBP2B;
==Genomic Location==
==Genomic Location==
'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1
'''Cytoband:''' 16q22.1
'''Genomic Coordinates:'''
'''Genomic Coordinates:'''
chr16:67,029,116-67,101,058(GRCh38/hg38)
chr16:67,063,019-67,134,961(GRCh37/hg19)
==Cancer Category/Type==
'''Acute Myeloid Leukemia (AML);'''
inv(16)(p13;q22) or t(16)(p13;q22), (CBFB andMYH11) also translocation confer a favorable prognosis in their respective diseases (2, 6)
inv(16)(p13;q22) or t(16)(p13;q22), which disrupt CBFB the non-DNA-binding partner of RUNX1 and the MYH11 gene: also translocation confer a favorable prognosis in their respective diseases (2)
==Gene Overview==
==Gene Overview==
The protein encoded by CFBF can bind the protein encoded by RUNX1 to form "Core Binding Factor", a hetero-dimeric transcription factor, which regulates a number of genes responsible for hematopoiesis and osteogenesis (2). The beta subunit is a non-DNA binding regulatory subunit and it allosterically enhances DNA binding by alpha subunit (Runx1 protein). In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype.
==Common Alteration Types==
==Common Alteration Types==
'''Acute Myeloid Leukemia (AML);'''
inv(16)(p13;q22) or t(16)(p13;q22), (CBFB andMYH11)
{| class="wikitable sortable"
{| class="wikitable sortable"
EXAMPLES
EXAMPLES
'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
'''[http://atlasgeneticsoncology.org/Genes/CBFbID45.html ''CBFB'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CBFB ''CBFB'' by COSMIC]''' - sequence information, expression, catalogue of mutations
'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CBFB ''CBFB'' by COSMIC]''' - sequence information, expression, catalogue of mutations
'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information
'''[https://civicdb.org/events/genes/776/summary/variants/431/summary ''CBFB'' by CIViC]''' - general knowledge and evidence-based variant specific information
'''[https://pecan.stjude.cloud/proteinpaint/CBFB ''CBFB'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
'''[https://pecan.stjude.cloud/proteinpaint/CBFB ''CBFB'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
'''[https://www.mycancergenome.org/content/gene/CBFB/ ''CBFB'' by My Cancer Genome]''' - brief gene overview
'''[https://www.mycancergenome.org/content/gene/CBFB/ ''CBFB'' by My Cancer Genome]''' - brief gene overview
'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function
'''[http://www.uniprot.org/uniprot/Q13951 ''CBFB'' by UniProt]''' - protein and molecular structure and function
'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
'''[https://pfam.xfam.org/protein/Q13951 ''CBFB'' by Pfam]''' - gene and protein structure and function information
'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBFB ''CBFB'' by GeneCards]''' - general gene information and summaries
'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBFB ''CBFB'' by GeneCards]''' - general gene information and summaries
'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome
'''[https://www.ncbi.nlm.nih.gov/gene/865 CBFB in NCBI]''' - general gene information and summaries
'''[http://www.omim.org/entry/121360 ''CBFB'' by OMIM]''' - compendium of human genes and genetic phenotypes
'''[https://databases.lovd.nl/shared/genes/CBFB ''CBFB'' by LOVD(3)]''' - Leiden Open Variation Database
'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=CBFB ''CBFB'' by TICdb]''' - database of Translocation breakpoints In Cancer
==References==
==References==
== Notes ==
== Notes ==
<nowiki>*</nowiki>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.
<nowiki>*</nowiki>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.
[[Category:Cancer Genes C]]