Compendium of Cancer Genome Aberrations

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RUNX1T1 (view source)

Revision as of 18:12, 29 June 2018

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==Synonyms==
 
==Synonyms==
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"RUNX1 translocation partner 1"; "Cyclin-D-Related Protein"; CDR; "Eight Twenty One Protein"; ETO; "Myeloid Translocation Gene On 8q22"; MTG8; "Acute Myelogenous Leukemia 1 Translocation 1"; AML1T1; "Zinc Finger MYND Domain-Containing Protein 2"; ZMYND2; "Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 1; Cyclin D-Related"; CBFA2T1; AML1-MTG8
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EXAMPLE: Tumor protein p53, ''LFS1, p53, BCC7, TRP53''
      
==Genomic Location==
 
==Genomic Location==
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'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1
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'''Cytoband:''' 8q21.3
    
'''Genomic Coordinates:'''  
 
'''Genomic Coordinates:'''  
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chr8:91,954,967-92,103,286(GRCh38/hg38)
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EXAMPLE: chr17:7,571,720-7,590,868 [hg19]
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EXAMPLE: chr17:7,668,402-7,687,538 [hg38]
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chr8:92,967,195-93,115,514(GRCh37/hg19)
    
==Cancer Category/Type==
 
==Cancer Category/Type==
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==Gene Overview==
 
==Gene Overview==
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This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression.  The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation.
    
==Common Alteration Types==
 
==Common Alteration Types==
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'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML)]'''
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The t(8;21)(q22;q22) (RUNXT1, RUNX1) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% (book)
    
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
 
'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
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'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''TP53'' by COSMIC]''' - sequence information, expression, catalogue of mutations
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'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=runx1t1 ''TP53'' 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/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information
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'''[http://p53.iarc.fr/ ''TP53'' by IARC]''' - ''TP53'' database with reference sequences and mutational landscape
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'''[https://pecan.stjude.cloud/proteinpaint/runx1t1 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
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'''[https://pecan.stjude.cloud/proteinpaint/tp53 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
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'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=runx1t1 ''TP53'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs
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'''[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
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'''[http://www.cancerindex.org/geneweb/runx1t1.htm ''TP53'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
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'''[http://www.cancerindex.org/geneweb/TP53.htm ''TP53'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
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'''[http://oncokb.org/#/gene/runx1t1 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
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'''[http://oncokb.org/#/gene/TP53 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
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'''[https://www.mycancergenome.org/content/gene/runx1t1/ ''TP53'' by My Cancer Genome]''' - brief gene overview
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'''[https://www.mycancergenome.org/content/gene/tp53/ ''TP53'' 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/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function
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'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
 
'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
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'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=tp53 ''TP53'' by GeneCards]''' - general gene information and summaries
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'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=runx1t1 ''TP53'' 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/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome
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'''[https://www.ncbi.nlm.nih.gov/gene/862 RUNX1T1 by NCBI Gene]''' - general gene information and summaries
    
==References==
 
==References==
Brian.Davis
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