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| ==Synonyms== | | ==Synonyms== |
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− | Put your text here
| + | "myosin heavy chain 11", AAT4; FAA4; SMHC; SMMHC |
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− | EXAMPLE: Tumor protein p53, ''LFS1, p53, BCC7, TRP53''
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| ==Genomic Location== | | ==Genomic Location== |
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| ==Gene Overview== | | ==Gene Overview== |
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− | Put your text here.
| + | The MYH11 gene encodes a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. |
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| ==Common Alteration Types== | | ==Common Alteration Types== |
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| EXAMPLES | | EXAMPLES |
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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/MYH11ID43.html ''MYH11'' 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 | + | '''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=myh11 ''MYH11'' by COSMIC]''' - sequence information, expression, catalogue of mutations |
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| '''[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 | + | '''[https://pecan.stjude.cloud/proteinpaint/myh11 ''MYH11'' 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. | + | '''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=myh11 ''MYH11'' 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 | + | '''[http://www.cancerindex.org/geneweb/myh11.htm ''MYH11'' 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 | + | '''[http://oncokb.org/#/gene/myh11 ''MYH11'' 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 | + | '''[https://www.mycancergenome.org/content/gene/myh11/ ''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 ''myh11'' by UniProt]''' - protein and molecular structure and function |
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− | '''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function | + | '''[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=myh11 ''TP53'' by GeneCards]''' - general gene information and summaries |
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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
| + | '''[https://www.ncbi.nlm.nih.gov/gene/4629 MYH11 by NCBI Gene]''' - general gene information and summaries |
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− | '''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome | |
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| ==References== | | ==References== |