Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MYOD1 (myogenic differentiation 1)

Identity

Alias_namesMYF3
myogenic factor 3
Alias_symbol (synonym)PUM
MYOD
bHLHc1
Other alias
HGNC (Hugo) MYOD1
LocusID (NCBI) 4654
Atlas_Id 41482
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 17719563 and ends at 17722131 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MYOD1 (11p15.1) / MYOD1 (11p15.1)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Soft Tissues: Alveolar rhabdomyosarcoma


External links

Nomenclature
HGNC (Hugo)MYOD1   7611
Cards
Entrez_Gene (NCBI)MYOD1  4654  myogenic differentiation 1
AliasesMYF3; MYOD; PUM; bHLHc1
GeneCards (Weizmann)MYOD1
Ensembl hg19 (Hinxton)ENSG00000129152 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129152 [Gene_View]  chr11:17719563-17722131 [Contig_View]  MYOD1 [Vega]
ICGC DataPortalENSG00000129152
TCGA cBioPortalMYOD1
AceView (NCBI)MYOD1
Genatlas (Paris)MYOD1
WikiGenes4654
SOURCE (Princeton)MYOD1
Genetics Home Reference (NIH)MYOD1
Genomic and cartography
GoldenPath hg38 (UCSC)MYOD1  -     chr11:17719563-17722131 +  11p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYOD1  -     11p15.1   [Description]    (hg19-Feb_2009)
EnsemblMYOD1 - 11p15.1 [CytoView hg19]  MYOD1 - 11p15.1 [CytoView hg38]
Mapping of homologs : NCBIMYOD1 [Mapview hg19]  MYOD1 [Mapview hg38]
OMIM159970   
Gene and transcription
Genbank (Entrez)AI300241 AK314968 BC064493 BF205042 BF304059
RefSeq transcript (Entrez)NM_002478
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYOD1
Cluster EST : UnigeneHs.181768 [ NCBI ]
CGAP (NCI)Hs.181768
Alternative Splicing GalleryENSG00000129152
Gene ExpressionMYOD1 [ NCBI-GEO ]   MYOD1 [ EBI - ARRAY_EXPRESS ]   MYOD1 [ SEEK ]   MYOD1 [ MEM ]
Gene Expression Viewer (FireBrowse)MYOD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4654
GTEX Portal (Tissue expression)MYOD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15172   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15172  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15172
Splice isoforms : SwissVarP15172
PhosPhoSitePlusP15172
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)Basic    bHLH_dom    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)MYOD1
DMDM Disease mutations4654
Blocks (Seattle)MYOD1
SuperfamilyP15172
Human Protein AtlasENSG00000129152
Peptide AtlasP15172
HPRD01166
IPIIPI00102339   
Protein Interaction databases
DIP (DOE-UCLA)P15172
IntAct (EBI)P15172
FunCoupENSG00000129152
BioGRIDMYOD1
STRING (EMBL)MYOD1
ZODIACMYOD1
Ontologies - Pathways
QuickGOP15172
Ontology : AmiGOregulation of alternative mRNA splicing, via spliceosome  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  chromatin binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytosol  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  protein phosphorylation  muscle organ development  myoblast fate determination  skeletal muscle tissue development  myoblast fusion  transcription factor binding  cellular response to starvation  myotube cell development  myotube differentiation involved in skeletal muscle regeneration  nuclear body  myofibril  chromatin DNA binding  ubiquitin protein ligase binding  nuclear hormone receptor binding  skeletal muscle cell differentiation  muscle cell fate commitment  positive regulation of skeletal muscle tissue regeneration  regulation of RNA splicing  skeletal muscle fiber adaptation  histone H3 acetylation  histone H4 acetylation  positive regulation of myoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  skeletal muscle fiber development  positive regulation of skeletal muscle fiber development  positive regulation of muscle cell differentiation  positive regulation of muscle cell differentiation  E-box binding  cellular response to glucocorticoid stimulus  cellular response to estradiol stimulus  cellular response to oxygen levels  positive regulation of myoblast fusion  negative regulation of myoblast proliferation  
Ontology : EGO-EBIregulation of alternative mRNA splicing, via spliceosome  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  chromatin binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytosol  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  protein phosphorylation  muscle organ development  myoblast fate determination  skeletal muscle tissue development  myoblast fusion  transcription factor binding  cellular response to starvation  myotube cell development  myotube differentiation involved in skeletal muscle regeneration  nuclear body  myofibril  chromatin DNA binding  ubiquitin protein ligase binding  nuclear hormone receptor binding  skeletal muscle cell differentiation  muscle cell fate commitment  positive regulation of skeletal muscle tissue regeneration  regulation of RNA splicing  skeletal muscle fiber adaptation  histone H3 acetylation  histone H4 acetylation  positive regulation of myoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  skeletal muscle fiber development  positive regulation of skeletal muscle fiber development  positive regulation of muscle cell differentiation  positive regulation of muscle cell differentiation  E-box binding  cellular response to glucocorticoid stimulus  cellular response to estradiol stimulus  cellular response to oxygen levels  positive regulation of myoblast fusion  negative regulation of myoblast proliferation  
Pathways : BIOCARTASignal Dependent Regulation of Myogenesis by Corepressor MITR [Genes]    Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) [Genes]   
NDEx NetworkMYOD1
Atlas of Cancer Signalling NetworkMYOD1
Wikipedia pathwaysMYOD1
Orthology - Evolution
OrthoDB4654
GeneTree (enSembl)ENSG00000129152
Phylogenetic Trees/Animal Genes : TreeFamMYOD1
HOVERGENP15172
HOGENOMP15172
Homologs : HomoloGeneMYOD1
Homology/Alignments : Family Browser (UCSC)MYOD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYOD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYOD1
dbVarMYOD1
ClinVarMYOD1
1000_GenomesMYOD1 
Exome Variant ServerMYOD1
ExAC (Exome Aggregation Consortium)MYOD1 (select the gene name)
Genetic variants : HAPMAP4654
Genomic Variants (DGV)MYOD1 [DGVbeta]
DECIPHERMYOD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYOD1 
Mutations
ICGC Data PortalMYOD1 
TCGA Data PortalMYOD1 
Broad Tumor PortalMYOD1
OASIS PortalMYOD1 [ Somatic mutations - Copy number]
Cancer Gene: CensusMYOD1 
Somatic Mutations in Cancer : COSMICMYOD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYOD1
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 MYOD1
DgiDB (Drug Gene Interaction Database)MYOD1
DoCM (Curated mutations)MYOD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYOD1 (select a term)
intoGenMYOD1
Cancer3DMYOD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM159970   
Orphanet1310   
MedgenMYOD1
Genetic Testing Registry MYOD1
NextProtP15172 [Medical]
TSGene4654
GENETestsMYOD1
Target ValidationMYOD1
Huge Navigator MYOD1 [HugePedia]
snp3D : Map Gene to Disease4654
BioCentury BCIQMYOD1
ClinGenMYOD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4654
Chemical/Pharm GKB GenePA31416
Clinical trialMYOD1
Miscellaneous
canSAR (ICR)MYOD1 (select the gene name)
Probes
Litterature
PubMed162 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYOD1
EVEXMYOD1
GoPubMedMYOD1
iHOPMYOD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:21:11 CEST 2017

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