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MSC (musculin)

Identity

Alias_namesmusculin (activated B-cell factor-1)
Alias_symbol (synonym)ABF-1
bHLHa22
Other aliasABF1
MYOR
HGNC (Hugo) MSC
LocusID (NCBI) 9242
Atlas_Id 50561
Location 8q13.3  [Link to chromosome band 8q13]
Location_base_pair Starts at 71841542 and ends at 71844496 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MSC (8q13.3) / CA2 (8q21.2)MSC (8q13.3) / SORBS1 (10q24.1)

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

 


External links

Nomenclature
HGNC (Hugo)MSC   7321
Cards
Entrez_Gene (NCBI)MSC  9242  musculin
AliasesABF-1; ABF1; MYOR; bHLHa22
GeneCards (Weizmann)MSC
Ensembl hg19 (Hinxton)ENSG00000178860 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178860 [Gene_View]  chr8:71841542-71844496 [Contig_View]  MSC [Vega]
ICGC DataPortalENSG00000178860
TCGA cBioPortalMSC
AceView (NCBI)MSC
Genatlas (Paris)MSC
WikiGenes9242
SOURCE (Princeton)MSC
Genetics Home Reference (NIH)MSC
Genomic and cartography
GoldenPath hg38 (UCSC)MSC  -     chr8:71841542-71844496 -  8q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MSC  -     8q13.3   [Description]    (hg19-Feb_2009)
EnsemblMSC - 8q13.3 [CytoView hg19]  MSC - 8q13.3 [CytoView hg38]
Mapping of homologs : NCBIMSC [Mapview hg19]  MSC [Mapview hg38]
OMIM603628   
Gene and transcription
Genbank (Entrez)AF060154 AF087036 AK313102 BC006313 BC067827
RefSeq transcript (Entrez)NM_005098
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MSC
Cluster EST : UnigeneHs.442619 [ NCBI ]
CGAP (NCI)Hs.442619
Alternative Splicing GalleryENSG00000178860
Gene ExpressionMSC [ NCBI-GEO ]   MSC [ EBI - ARRAY_EXPRESS ]   MSC [ SEEK ]   MSC [ MEM ]
Gene Expression Viewer (FireBrowse)MSC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9242
GTEX Portal (Tissue expression)MSC
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60682   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60682  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60682
Splice isoforms : SwissVarO60682
PhosPhoSitePlusO60682
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)MSC
DMDM Disease mutations9242
Blocks (Seattle)MSC
SuperfamilyO60682
Human Protein AtlasENSG00000178860
Peptide AtlasO60682
HPRD04694
IPIIPI00031032   
Protein Interaction databases
DIP (DOE-UCLA)O60682
IntAct (EBI)O60682
FunCoupENSG00000178860
BioGRIDMSC
STRING (EMBL)MSC
ZODIACMSC
Ontologies - Pathways
QuickGOO60682
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription factor activity, sequence-specific DNA binding  transcription corepressor activity  nucleus  nucleoplasm  transcription from RNA polymerase II promoter  branchiomeric skeletal muscle development  protein dimerization activity  palate development  diaphragm development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription factor activity, sequence-specific DNA binding  transcription corepressor activity  nucleus  nucleoplasm  transcription from RNA polymerase II promoter  branchiomeric skeletal muscle development  protein dimerization activity  palate development  diaphragm development  
NDEx NetworkMSC
Atlas of Cancer Signalling NetworkMSC
Wikipedia pathwaysMSC
Orthology - Evolution
OrthoDB9242
GeneTree (enSembl)ENSG00000178860
Phylogenetic Trees/Animal Genes : TreeFamMSC
HOVERGENO60682
HOGENOMO60682
Homologs : HomoloGeneMSC
Homology/Alignments : Family Browser (UCSC)MSC
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMSC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSC
dbVarMSC
ClinVarMSC
1000_GenomesMSC 
Exome Variant ServerMSC
ExAC (Exome Aggregation Consortium)MSC (select the gene name)
Genetic variants : HAPMAP9242
Genomic Variants (DGV)MSC [DGVbeta]
DECIPHERMSC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMSC 
Mutations
ICGC Data PortalMSC 
TCGA Data PortalMSC 
Broad Tumor PortalMSC
OASIS PortalMSC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMSC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMSC
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 MSC
DgiDB (Drug Gene Interaction Database)MSC
DoCM (Curated mutations)MSC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MSC (select a term)
intoGenMSC
Cancer3DMSC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603628   
Orphanet
MedgenMSC
Genetic Testing Registry MSC
NextProtO60682 [Medical]
TSGene9242
GENETestsMSC
Target ValidationMSC
Huge Navigator MSC [HugePedia]
snp3D : Map Gene to Disease9242
BioCentury BCIQMSC
ClinGenMSC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9242
Chemical/Pharm GKB GenePA31130
Clinical trialMSC
Miscellaneous
canSAR (ICR)MSC (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMSC
EVEXMSC
GoPubMedMSC
iHOPMSC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:20:40 CEST 2017

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