Difference between revisions of "MYH11"
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"myosin heavy chain 11", AAT4; FAA4; SMHC; SMMHC | "myosin heavy chain 11", AAT4; FAA4; SMHC; SMMHC | ||
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==Genomic Location== | ==Genomic Location== | ||
| − | '''Cytoband:''' | + | '''Cytoband:''' 16p13.11 |
'''Genomic Coordinates:''' | '''Genomic Coordinates:''' | ||
| Line 19: | Line 17: | ||
Put your text here | Put your text here | ||
| − | + | chr16:15,703,135-15,857,033(GRCh38/hg38) | |
| − | + | chr16:15,796,992-15,950,890(GRCh37/hg19) | |
==Cancer Category/Type== | ==Cancer Category/Type== | ||
| − | + | '''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]''' | |
| + | |||
| + | '''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_inv(16)(p13.1q22)_or_t(16;16)(p13.1;q22);_CBFB-MYH11 Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]''' | ||
| + | |||
| + | inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | ||
==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 | + | 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 and the C-terminal portion of the smooth muscle myosin heavy chain. |
==Common Alteration Types== | ==Common Alteration Types== | ||
| − | + | inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | |
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 39: | Line 41: | ||
! 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 | ||
|- | |- | ||
| − | | | + | | || || || || || X |
|} | |} | ||
==Internal Pages== | ==Internal Pages== | ||
| − | + | '''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]''' | |
| − | + | ||
| − | + | '''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_inv(16)(p13.1q22)_or_t(16;16)(p13.1;q22);_CBFB-MYH11 Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]''' | |
==External Links== | ==External Links== | ||
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=== EXAMPLE Book === | === EXAMPLE Book === | ||
| − | + | 1. 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. | |
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== 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. | ||
Revision as of 16:24, 6 July 2018
Primary Author(s)*
Brian Davis PhD
Synonyms
"myosin heavy chain 11", AAT4; FAA4; SMHC; SMMHC
Genomic Location
Cytoband: 16p13.11
Genomic Coordinates:
Put your text here
chr16:15,703,135-15,857,033(GRCh38/hg38)
chr16:15,796,992-15,950,890(GRCh37/hg19)
Cancer Category/Type
Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms
Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
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 and the C-terminal portion of the smooth muscle myosin heavy chain.
Common Alteration Types
inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| X |
Internal Pages
Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms
Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
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
MYH11 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
MYH11 by COSMIC - sequence information, expression, catalogue of mutations
MYH11 by St. Jude ProteinPaint mutational landscape and matched expression data.
MYH11 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
MYH11 by Cancer Index - gene, pathway, publication information matched to cancer type
MYH11 by My Cancer Genome - brief gene overview
MYH11 by UniProt - protein and molecular structure and function
MYH11 by Pfam - gene and protein structure and function information
MYH11 by GeneCards - general gene information and summaries
MYH11 by NCBI Gene - general gene information and summaries
References
EXAMPLE Book
1. 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.
Notes
*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.