Compendium of Cancer Genome Aberrations

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ETV6 (view source)

Revision as of 11:51, 2 August 2018

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==Synonyms==
 
==Synonyms==
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ETS Variant 6; TEL; THC5; TEL/ABL
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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:''' 12p13.2
    
'''Genomic Coordinates:'''  
 
'''Genomic Coordinates:'''  
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EXAMPLE: chr17:7,571,720-7,590,868 [hg19]
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chr12:11,802,788-12,048,336(GRCh37/hg19)
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EXAMPLE: chr17:7,668,402-7,687,538 [hg38]
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chr12:11,649,854-11,895,402(GRCh38/hg38)
    
==Cancer Category/Type==
 
==Cancer Category/Type==
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==Gene Overview==
 
==Gene Overview==
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The ETV6 gene encodes one of 29 proteins in the  ETS family of transcription factors ( "ETS" is from "E26 transformation-specific" or "E-twenty-six"). The Protein Etvs6 contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. The protein is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. ([https://www.ncbi.nlm.nih.gov/gene/2120 addapted form NCBI Gene description]).
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Transcriptional repressor; binds to the DNA sequence 5-CCGGAAGT-3. Plays a role in hematopoiesis and malignant transformation.
    
==Common Alteration Types==
 
==Common Alteration Types==
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==External Links==
 
==External Links==
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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.
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EXAMPLES
      
'''[http://atlasgeneticsoncology.org/Genes/ETV6ID38.html ''ETV6'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
 
'''[http://atlasgeneticsoncology.org/Genes/ETV6ID38.html ''ETV6'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
Brian.Davis
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