Changes

==Synonyms==

==Synonyms==

 

==Genomic Location==

==Genomic Location==

'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1

'''Cytoband:''' 16q22.1

'''Genomic Coordinates:'''  

'''Genomic Coordinates:'''  

EXAMPLE: chr17:7,571,720-7,590,868 [hg19]

chr16:67,063,019-67,134,961(GRCh37/hg19)

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==

Put your text here.

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==

Put your text here and/or fill in the table with an X where applicable

 

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://civicdb.org/events/genes/776/summary/variants/431/summary ''CBFB'' by CIViC]''' - general knowledge and evidence-based variant specific information

'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''TP53'' by COSMIC]''' - sequence information, expression, catalogue of mutations

'''[https://pecan.stjude.cloud/proteinpaint/CBFB ''CBFB'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.

'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information

'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=CBFB ''CBFB'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs

'''[http://p53.iarc.fr/ ''TP53'' by IARC]''' - ''TP53'' database with reference sequences and mutational landscape

'''[http://www.cancerindex.org/geneweb/CBFB.htm ''CBFB'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type

'''[https://pecan.stjude.cloud/proteinpaint/tp53 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.

'''[http://oncokb.org/#/gene/CBFB ''CBFB'' by OncoKB]''' - mutational landscape, mutation effect, variant classification

'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=tp53 ''TP53'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs

'''[https://www.mycancergenome.org/content/gene/CBFB/ ''CBFB'' by My Cancer Genome]''' - brief gene overview

'''[http://www.cancerindex.org/geneweb/TP53.htm ''TP53'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type

'''[http://www.uniprot.org/uniprot/Q13951 ''CBFB'' by UniProt]''' - protein and molecular structure and function

'''[http://oncokb.org/#/gene/TP53 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification

'''[https://pfam.xfam.org/protein/Q13951 ''CBFB'' by Pfam]''' - gene and protein structure and function information

'''[https://www.mycancergenome.org/content/gene/tp53/ ''TP53'' by My Cancer Genome]''' - brief gene overview

'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBFB ''CBFB'' by GeneCards]''' - general gene information and summaries

'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function

'''[https://www.ncbi.nlm.nih.gov/gene/865 CBFB in NCBI]''' - general gene information and summaries

'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information

'''[http://www.omim.org/entry/121360 ''CBFB'' by OMIM]''' - compendium of human genes and genetic phenotypes

'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=tp53 ''TP53'' by GeneCards]''' - general gene information and summaries

'''[https://databases.lovd.nl/shared/genes/CBFB  ''CBFB'' by LOVD(3)]''' - Leiden Open Variation Database

'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome

'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=CBFB ''CBFB'' by TICdb]''' - database of Translocation breakpoints In Cancer

==References==

==References==

1. Trippier, P. C. (2017).  Small molecule inhibitors for acute myeloid leukemia: where is the field heading? Future Med. Chem. 13:1453-1456.  PMID 28795593  doi: 10.4155/fmc-2017-0114

1. Trippier, P. C. (2017).  Small molecule inhibitors for acute myeloid leukemia: where is the field heading? Future Med. Chem. 13:1453-1456.  PMID 28795593  doi: 10.4155/fmc-2017-0114

== 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.