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MYF5 (myogenic factor 5)

Identity

Alias_symbol (synonym)bHLHc2
Other aliasEORVA
HGNC (Hugo) MYF5
LocusID (NCBI) 4617
Atlas_Id 50169
Location 12q21.31  [Link to chromosome band 12q21]
Location_base_pair Starts at 80716929 and ends at 80719668 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MYF5   7565
Cards
Entrez_Gene (NCBI)MYF5  4617  myogenic factor 5
AliasesEORVA; bHLHc2
GeneCards (Weizmann)MYF5
Ensembl hg19 (Hinxton)ENSG00000111049 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111049 [Gene_View]  ENSG00000111049 [Sequence]  chr12:80716929-80719668 [Contig_View]  MYF5 [Vega]
ICGC DataPortalENSG00000111049
TCGA cBioPortalMYF5
AceView (NCBI)MYF5
Genatlas (Paris)MYF5
WikiGenes4617
SOURCE (Princeton)MYF5
Genetics Home Reference (NIH)MYF5
Genomic and cartography
GoldenPath hg38 (UCSC)MYF5  -     chr12:80716929-80719668 +  12q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYF5  -     12q21.31   [Description]    (hg19-Feb_2009)
EnsemblMYF5 - 12q21.31 [CytoView hg19]  MYF5 - 12q21.31 [CytoView hg38]
Mapping of homologs : NCBIMYF5 [Mapview hg19]  MYF5 [Mapview hg38]
OMIM159990   618155   
Gene and transcription
Genbank (Entrez)BC069373 BP231293 BT019399 BX089431 X14894
RefSeq transcript (Entrez)NM_005593
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYF5
Cluster EST : UnigeneHs.178023 [ NCBI ]
CGAP (NCI)Hs.178023
Alternative Splicing GalleryENSG00000111049
Gene ExpressionMYF5 [ NCBI-GEO ]   MYF5 [ EBI - ARRAY_EXPRESS ]   MYF5 [ SEEK ]   MYF5 [ MEM ]
Gene Expression Viewer (FireBrowse)MYF5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4617
GTEX Portal (Tissue expression)MYF5
Human Protein AtlasENSG00000111049-MYF5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13349   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13349  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13349
Splice isoforms : SwissVarP13349
PhosPhoSitePlusP13349
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)Basic    bHLH_dom    HLH_DNA-bd_sf    Myf5   
Domain families : Pfam (Sanger)Basic (PF01586)    HLH (PF00010)    Myf5 (PF12232)   
Domain families : Pfam (NCBI)pfam01586    pfam00010    pfam12232   
Domain families : Smart (EMBL)BASIC (SM00520)  HLH (SM00353)  
Conserved Domain (NCBI)MYF5
DMDM Disease mutations4617
Blocks (Seattle)MYF5
SuperfamilyP13349
Human Protein Atlas [tissue]ENSG00000111049-MYF5 [tissue]
Peptide AtlasP13349
HPRD01168
IPIIPI00008389   
Protein Interaction databases
DIP (DOE-UCLA)P13349
IntAct (EBI)P13349
FunCoupENSG00000111049
BioGRIDMYF5
STRING (EMBL)MYF5
ZODIACMYF5
Ontologies - Pathways
QuickGOP13349
Ontology : AmiGORNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  cartilage condensation  ossification  somitogenesis  regulation of cell-matrix adhesion  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  regulation of transcription by RNA polymerase II  muscle organ development  skeletal muscle tissue development  extracellular matrix organization  skeletal muscle cell differentiation  muscle cell fate commitment  camera-type eye development  positive regulation of myoblast differentiation  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  embryonic skeletal system morphogenesis  positive regulation of skeletal muscle fiber development  positive regulation of muscle cell differentiation  muscle tissue morphogenesis  E-box binding  RNA polymerase II transcription factor complex  positive regulation of myoblast fusion  
Ontology : EGO-EBIRNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  cartilage condensation  ossification  somitogenesis  regulation of cell-matrix adhesion  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  regulation of transcription by RNA polymerase II  muscle organ development  skeletal muscle tissue development  extracellular matrix organization  skeletal muscle cell differentiation  muscle cell fate commitment  camera-type eye development  positive regulation of myoblast differentiation  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  embryonic skeletal system morphogenesis  positive regulation of skeletal muscle fiber development  positive regulation of muscle cell differentiation  muscle tissue morphogenesis  E-box binding  RNA polymerase II transcription factor complex  positive regulation of myoblast fusion  
NDEx NetworkMYF5
Atlas of Cancer Signalling NetworkMYF5
Wikipedia pathwaysMYF5
Orthology - Evolution
OrthoDB4617
GeneTree (enSembl)ENSG00000111049
Phylogenetic Trees/Animal Genes : TreeFamMYF5
HOVERGENP13349
HOGENOMP13349
Homologs : HomoloGeneMYF5
Homology/Alignments : Family Browser (UCSC)MYF5
Gene fusions - Rearrangements
Fusion : QuiverMYF5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYF5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYF5
dbVarMYF5
ClinVarMYF5
1000_GenomesMYF5 
Exome Variant ServerMYF5
ExAC (Exome Aggregation Consortium)ENSG00000111049
GNOMAD BrowserENSG00000111049
Varsome BrowserMYF5
Genetic variants : HAPMAP4617
Genomic Variants (DGV)MYF5 [DGVbeta]
DECIPHERMYF5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYF5 
Mutations
ICGC Data PortalMYF5 
TCGA Data PortalMYF5 
Broad Tumor PortalMYF5
OASIS PortalMYF5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYF5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYF5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MYF5
DgiDB (Drug Gene Interaction Database)MYF5
DoCM (Curated mutations)MYF5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYF5 (select a term)
intoGenMYF5
Cancer3DMYF5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM159990    618155   
Orphanet
DisGeNETMYF5
MedgenMYF5
Genetic Testing Registry MYF5
NextProtP13349 [Medical]
TSGene4617
GENETestsMYF5
Target ValidationMYF5
Huge Navigator MYF5 [HugePedia]
snp3D : Map Gene to Disease4617
BioCentury BCIQMYF5
ClinGenMYF5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4617
Chemical/Pharm GKB GenePA31363
Clinical trialMYF5
Miscellaneous
canSAR (ICR)MYF5 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYF5
EVEXMYF5
GoPubMedMYF5
iHOPMYF5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:24:28 CET 2018

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