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mutLBSgeneDB |
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| Gene summary for MYH7 |
 Gene summary |
| Basic gene Info. | Gene symbol | MYH7 |
| Gene name | myosin, heavy chain 7, cardiac muscle, beta | |
| Synonyms | CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM | |
| Cytomap | UCSC genome browser: 14q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000257.3, | |
| Description | myHC-betamyhc-slowmyopathy, distal 1myosin heavy chain slow isoformmyosin heavy chain, cardiac muscle beta isoformmyosin, heavy polypeptide 7, cardiac muscle, betamyosin-7rhabdomyosarcoma antigen MU-RMS-40.7A | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 160760 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000092054 | ||
| HPRD : 01175 | ||
| Vega : OTTHUMG00000028755 | ||
| Protein | UniProt: P12883 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MYH7 | |
| BioGPS: 4625 | ||
| Pathway | NCI Pathway Interaction Database: MYH7 | |
| KEGG: MYH7 | ||
| REACTOME: MYH7 | ||
| Pathway Commons: MYH7 | ||
| Context | iHOP: MYH7 | |
| ligand binding site mutation search in PubMed: MYH7 | ||
| UCL Cancer Institute: MYH7 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0002026 | regulation of the force of heart contraction | 15621050 | GO:0002027 | regulation of heart rate | 15621050 | GO:0006200 | ATP catabolic process | 15621050 | GO:0006936 | muscle contraction | 15621050 | GO:0006941 | striated muscle contraction | 15621050 |
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| Ligand binding site mutations for MYH7 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N238 | R237Q | LUAD | 1 | V186 | N187K | LUAD | 1 | N238 | N238K | LUSC | 1 | S180 | G178R | PRAD | 1 | N238 | R237Q | SKCM | 1 | Y134 | P132L | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for MYH7 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | N238 | R237Q | -1.1502253 | N238 | N238K | -1.0680678 | V186 | N187K | -0.73934988 | Y134 | P132L | -0.63413 | S180 | G178R | -0.095529198 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for MYH7 from PDB |
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| Differential gene expression and gene-gene network for MYH7 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for MYH7 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0878544 | Cardiomyopathies | 49 | Biomarker, GeneticVariation |
| umls:C0007193 | Cardiomyopathy, Dilated | 16 | Biomarker, GeneticVariation |
| umls:C0949658 | Cardiomyopathy, Hypertrophic, Familial | 15 | Biomarker, GeneticVariation |
| umls:C0221054 | WELANDER DISTAL MYOPATHY | 10 | Biomarker, GeneticVariation |
| umls:C1842160 | Myopathy, Myosin Storage | 8 | Biomarker, GeneticVariation |
| umls:C0751336 | Distal Myopathies | 7 | Biomarker, GeneticVariation |
| umls:C1960469 | Left ventricular noncompaction | 3 | GeneticVariation |
| umls:C0242231 | Coronary Stenosis | 1 | Biomarker |
| umls:C0027051 | Myocardial Infarction | 1 | Biomarker |
| umls:C0546264 | Congenital Fiber-Type Disproportion | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 52269 | R237Q | Uncertain significance | Germline | MedGen:CN169374 |
| 178681 | G178R | Uncertain significance | Germline | MedGen:CN167392 |
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| Pharmacological information for MYH7 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB08378 | 4-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MYH7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ANP | AMP-PNP | 4db1 | A | Y134 S180 V186 N238 | ANP | AMP-PNP | 4db1 | B | Y134 S180 V186 N238 |
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| Conservation information for LBS of MYH7 |
| Multiple alignments for P12883 in multiple species |
| LBS | AA sequence | # species | Species | A182 | TGESGAGKTVN | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | A182 | TGESGAGKTEN | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G181 | ITGESGAGKTV | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | G181 | VTGESGAGKTE | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G183 | GESGAGKTVNT | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | G183 | GESGAGKTENT | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K129 | TVNPYKWLPVY | 4 | Homo sapiens, Canis lupus familiaris, Rattus norvegicus, Mus musculus | K129 | TINPYKWLPVY | 1 | Bos taurus | K129 | AINPYHNLNLY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K129 | AVNPYCGLPIY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K184 | ESGAGKTVNTK | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | K184 | ESGAGKTENTK | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N126 | FCVTVNPYKWL | 4 | Homo sapiens, Canis lupus familiaris, Rattus norvegicus, Mus musculus | N126 | FCVTINPYKWL | 1 | Bos taurus | N126 | FLVAINPYHNL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N126 | FLVAVNPYCGL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N238 | AKTVRNDNSSR | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | N238 | AQTVRNNNSSR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N238 | ARTVRNNNSSR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P127 | CVTVNPYKWLP | 4 | Homo sapiens, Canis lupus familiaris, Rattus norvegicus, Mus musculus | P127 | CVTINPYKWLP | 1 | Bos taurus | P127 | LVAINPYHNLN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P127 | LVAVNPYCGLP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S180 | LITGESGAGKT | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | S180 | LVTGESGAGKT | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S241 | VRNDNSSRFGK | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | S241 | VRNNNSSRFGK | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S242 | RNDNSSRFGKF | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | S242 | RNNNSSRFGKF | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T185 | SGAGKTVNTKR | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | T185 | SGAGKTENTKK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T185 | SGAGKTENTKR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V186 | GAGKTVNTKRV | 5 | Homo sapiens, Bos taurus, Canis lupus familiaris, Rattus norvegicus, Mus musculus | V186 | GAGKTENTKKI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V186 | GAGKTENTKRI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y134 | KWLPVYNAEVV | 3 | Bos taurus, Canis lupus familiaris, Mus musculus | Y134 | KWLPVYTPEVV | 1 | Homo sapiens | Y134 | KWLPVYNAQVV | 1 | Rattus norvegicus | Y134 | HNLNLYSEDHI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y134 | CGLPIYTKDII | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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