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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==+ + + − Put your text here+ − Put your text here.+ − Put your text here and/or fill in the table with an X where applicable+ + + − + − + − Put your text here+ − − EXAMPLE [[Germline Cancer Predisposition Genes]] − ==External Links==+ − 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.+ − EXAMPLES+ − + − + − + − + − + − + − + − + − + − + − + − + − + + − + − #Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.+ − === EXAMPLE Journal Article ===+ − #Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691. − − == 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.
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==Synonyms==
==Synonyms==
"myosin heavy chain 11", AAT4; FAA4; SMHC; SMMHC
==Genomic Location==
==Genomic Location==
'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1
'''Cytoband:''' 16p13.11
'''Genomic Coordinates:'''
'''Genomic Coordinates:'''
chr16:15,703,135-15,857,033(GRCh38/hg38)
chr16:15,796,992-15,950,890(GRCh37/hg19)
==Cancer Category/Type==
'''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
'''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_CBFB::MYH11_fusion Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]'''
Approximately 5-8% of AML cases have inv(16)(p13.1q22) or t(16;16)(p13.1;q22)<ref>Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p132-134.</ref><ref>Post SM, et al., (2015). Biology of adult myelocytic leukemia and myelodysplasia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.</ref>. Either rearrangement leads to a CBFB-MYH11 fusion gene and may be an early event in the development of Acute Myeloid Leukemia (AML)<ref name=":0">{{Cite journal|last=Ja|first=Pulikkan|last2=Lh|first2=Castilla|date=2018|title=Preleukemia and Leukemia-Initiating Cell Activity in inv(16) Acute Myeloid Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29755956/|language=en|doi=10.3389/fonc.2018.00129|pmc=PMC5932169|pmid=29755956}}</ref>.
==Gene Overview==
==Gene Overview==
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 protein bearing the first 165 residues from the N terminus of core-binding factor beta (''CBFB'') and the C-terminal portion of the smooth muscle myosin heavy chain (''MYH11'')<ref name=":0" />. The CBFβ–MYH11 fusion protein exerts a dominant negative function by increased binding to the transcription factor encoded by ''RUNX1'', thereby competing for free Runx1 protein and leading to lowered and altered transcription of myeloid genes<ref name=":0" />.
==Common Alteration Types==
==Common Alteration Types==
inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
The CBFβ–MYH11 fusion gene encodes a protein that exerts a dominant negative function by binding to the transcription factor encoded by ''RUNX1''. The fusion protein encoded by CBFβ–MYH11 competes (10-fold increased binding affinity) with normal CBFbeta protein for free Runx1 protein, leading to lowered and altered transcription of myeloid genes normally controlled by the CBFbeta and Runx1 transcription factors<ref name=":0" />.
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion
!Copy Number Loss!!Copy Number Gain!!LOH!!Loss-of-Function Mutation!!Gain-of-Function Mutation!!Translocation/Fusion
|-
|-
| EXAMPLE: X ||EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X
| || || || ||X||X
|}
|}
==Internal Pages==
==Internal Pages==
'''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
'''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_CBFB::MYH11_fusion Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]'''
'''[http://www.ccga.io/index.php/CBFB CBFB]'''
==External Links==
'''[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
'''[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
'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information
'''[https://pecan.stjude.cloud/proteinpaint/myh11 ''MYH11'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
'''[http://p53.iarc.fr/ ''TP53'' by IARC]''' - ''TP53'' database with reference sequences and mutational landscape
'''[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
'''[https://pecan.stjude.cloud/proteinpaint/tp53 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
'''[http://www.cancerindex.org/geneweb/MYH11.htm ''MYH11'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
'''[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/myh11/ ''MYH11'' 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
'''[https://www.uniprot.org/uniprot/P35749 ''MYH11'' 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/P35749 ''MYH11'' 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=myh11 ''MYH11'' 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/4629 MYH11 by NCBI Gene]''' - 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/160745 ''MYH11'' 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/MYH11 ''MYH11'' 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=MYH11 ''MYH11'' by TICdb]''' - database of Translocation breakpoints In Cancer
==References==
==References==
<references />
=== EXAMPLE Book ===
==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.
[[Category:Cancer Genes M]]