Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MUSK (muscle, skeletal, receptor tyrosine kinase)

Identity

Other namesCMS9
FADS
HGNC (Hugo) MUSK
LocusID (NCBI) 4593
Atlas_Id 41463
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 113431051 and ends at 113563278 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)		MUSK (9q31.3) / NUP133 (1q42.13)

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)MUSK   7525
Cards
Entrez_Gene (NCBI)MUSK  4593  muscle, skeletal, receptor tyrosine kinase
AliasesCMS9; FADS
GeneCards (Weizmann)MUSK
Ensembl hg19 (Hinxton)ENSG00000030304 [Gene_View]  chr9:113431051-113563278 [Contig_View]  MUSK [Vega]
Ensembl hg38 (Hinxton)ENSG00000030304 [Gene_View]  chr9:113431051-113563278 [Contig_View]  MUSK [Vega]
ICGC DataPortalENSG00000030304
TCGA cBioPortalMUSK
AceView (NCBI)MUSK
Genatlas (Paris)MUSK
WikiGenes4593
SOURCE (Princeton)MUSK
Genomic and cartography
GoldenPath hg19 (UCSC)MUSK  -     chr9:113431051-113563278 +  9q31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MUSK  -     9q31.3   [Description]    (hg38-Dec_2013)
EnsemblMUSK - 9q31.3 [CytoView hg19]  MUSK - 9q31.3 [CytoView hg38]
Mapping of homologs : NCBIMUSK [Mapview hg19]  MUSK [Mapview hg38]
OMIM208150   601296   616325   
Gene and transcription
Genbank (Entrez)AA448972 AF006464 BC109098 BC109099 BG825304
RefSeq transcript (Entrez)NM_001166280 NM_001166281 NM_005592
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_016016 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)MUSK
Cluster EST : UnigeneHs.521653 [ NCBI ]
CGAP (NCI)Hs.521653
Alternative Splicing GalleryENSG00000030304
Gene ExpressionMUSK [ NCBI-GEO ]   MUSK [ EBI - ARRAY_EXPRESS ]   MUSK [ SEEK ]   MUSK [ MEM ]
Gene Expression Viewer (FireBrowse)MUSK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4593
GTEX Portal (Tissue expression)MUSK
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15146 (Uniprot)
NextProtO15146  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15146
Splice isoforms : SwissVarO15146 (Swissvar)
PhosPhoSitePlusO15146
Domaine pattern : Prosite (Expaxy)FZ (PS50038)    IG_LIKE (PS50835)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)   
Domains : Interpro (EBI)Frizzled_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub2    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    Tyr_kinase_AS    Tyr_kinase_cat_dom   
Domain families : Pfam (Sanger)Fz (PF01392)    I-set (PF07679)    Ig_2 (PF13895)    Pkinase_Tyr (PF07714)   
Domain families : Pfam (NCBI)pfam01392    pfam07679    pfam13895    pfam07714   
Domain families : Smart (EMBL)IGc2 (SM00408)  TyrKc (SM00219)  
DMDM Disease mutations4593
Blocks (Seattle)MUSK
SuperfamilyO15146
Human Protein AtlasENSG00000030304
Peptide AtlasO15146
HPRD03190
IPIIPI00655599   IPI00915471   IPI00640270   IPI01014838   IPI00289243   IPI00514895   IPI00478800   
Protein Interaction databases
DIP (DOE-UCLA)O15146
IntAct (EBI)O15146
FunCoupENSG00000030304
BioGRIDMUSK
STRING (EMBL)MUSK
ZODIACMUSK
Ontologies - Pathways
QuickGOO15146
Ontology : AmiGOpositive regulation of protein phosphorylation  positive regulation of protein phosphorylation  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  protein binding  ATP binding  integral component of plasma membrane  transmembrane receptor protein tyrosine kinase signaling pathway  multicellular organism development  neuromuscular junction development  neuromuscular junction development  memory  regulation of synaptic growth at neuromuscular junction  positive regulation of gene expression  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  cell junction  cell differentiation  neuromuscular junction  receptor complex  postsynaptic membrane  protein autophosphorylation  metal ion binding  skeletal muscle acetylcholine-gated channel clustering  positive regulation of protein geranylgeranylation  
Ontology : EGO-EBIpositive regulation of protein phosphorylation  positive regulation of protein phosphorylation  protein tyrosine kinase activity  transmembrane receptor protein tyrosine kinase activity  protein binding  ATP binding  integral component of plasma membrane  transmembrane receptor protein tyrosine kinase signaling pathway  multicellular organism development  neuromuscular junction development  neuromuscular junction development  memory  regulation of synaptic growth at neuromuscular junction  positive regulation of gene expression  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  cell junction  cell differentiation  neuromuscular junction  receptor complex  postsynaptic membrane  protein autophosphorylation  metal ion binding  skeletal muscle acetylcholine-gated channel clustering  positive regulation of protein geranylgeranylation  
Pathways : BIOCARTAAgrin in Postsynaptic Differentiation [Genes]    Role of nicotinic acetylcholine receptors in the regulation of apoptosis [Genes]   
NDEx NetworkMUSK
Atlas of Cancer Signalling NetworkMUSK
Wikipedia pathwaysMUSK
Orthology - Evolution
OrthoDB4593
GeneTree (enSembl)ENSG00000030304
Phylogenetic Trees/Animal Genes : TreeFamMUSK
Homologs : HomoloGeneMUSK
Homology/Alignments : Family Browser (UCSC)MUSK
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMUSK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MUSK
dbVarMUSK
ClinVarMUSK
1000_GenomesMUSK 
Exome Variant ServerMUSK
ExAC (Exome Aggregation Consortium)MUSK (select the gene name)
Genetic variants : HAPMAP4593
Genomic Variants (DGV)MUSK [DGVbeta]
Mutations
ICGC Data PortalMUSK 
TCGA Data PortalMUSK 
Broad Tumor PortalMUSK
OASIS PortalMUSK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMUSK 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MUSK
DgiDB (Drug Gene Interaction Database)MUSK
DoCM (Curated mutations)MUSK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MUSK (select a term)
intoGenMUSK
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:113431051-113563278  ENSG00000030304
CONAN: Copy Number AnalysisMUSK 
Mutations and Diseases : HGMDMUSK
OMIM208150    601296    616325   
MedgenMUSK
Genetic Testing Registry MUSK
NextProtO15146 [Medical]
TSGene4593
GENETestsMUSK
Huge Navigator MUSK [HugePedia]
snp3D : Map Gene to Disease4593
BioCentury BCIQMUSK
ClinGenMUSK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4593
Chemical/Pharm GKB GenePA31326
Clinical trialMUSK
Miscellaneous
canSAR (ICR)MUSK (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMUSK
EVEXMUSK
GoPubMedMUSK
iHOPMUSK
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 19 19:03:31 CEST 2016
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