Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MUSK (muscle associated receptor tyrosine kinase)

Identity

Alias (NCBI)CMS9
FADS
FADS1
HGNC (Hugo) MUSK
HGNC Previous namemuscle, skeletal, receptor tyrosine kinase
LocusID (NCBI) 4593
Atlas_Id 41463
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 110668791 and ends at 110806558 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)
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    muscle associated receptor tyrosine kinase
AliasesCMS9; FADS; FADS1
GeneCards (Weizmann)MUSK
Ensembl hg19 (Hinxton)ENSG00000030304 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000030304 [Gene_View]  ENSG00000030304 [Sequence]  chr9:110668791-110806558 [Contig_View]  MUSK [Vega]
ICGC DataPortalENSG00000030304
TCGA cBioPortalMUSK
AceView (NCBI)MUSK
Genatlas (Paris)MUSK
SOURCE (Princeton)MUSK
Genetics Home Reference (NIH)MUSK
Genomic and cartography
GoldenPath hg38 (UCSC)MUSK  -     chr9:110668791-110806558 +  9q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MUSK  -     9q31.3   [Description]    (hg19-Feb_2009)
GoldenPathMUSK - 9q31.3 [CytoView hg19]  MUSK - 9q31.3 [CytoView hg38]
ImmunoBaseENSG00000030304
Genome Data Viewer NCBIMUSK [Mapview hg19]  
OMIM208150   601296   616325   
Gene and transcription
Genbank (Entrez)AA448972 AF006464 BC109098 BC109099 BG825304
RefSeq transcript (Entrez)NM_001166280 NM_001166281 NM_001369398 NM_005592
Consensus coding sequences : CCDS (NCBI)MUSK
Gene ExpressionMUSK [ NCBI-GEO ]   MUSK [ EBI - ARRAY_EXPRESS ]   MUSK [ SEEK ]   MUSK [ MEM ]
Gene Expression Viewer (FireBrowse)MUSK [ Firebrowse - Broad ]
GenevisibleExpression of MUSK in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4593
GTEX Portal (Tissue expression)MUSK
Human Protein AtlasENSG00000030304-MUSK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15146   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15146  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15146
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    Frizzled_dom_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Kinase-like_dom_sf    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)    PK_Tyr_Ser-Thr (PF07714)   
Domain families : Pfam (NCBI)pfam01392    pfam07679    pfam07714   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  TyrKc (SM00219)  
Conserved Domain (NCBI)MUSK
SuperfamilyO15146
AlphaFold pdb e-kbO15146   
Human Protein Atlas [tissue]ENSG00000030304-MUSK [tissue]
HPRD03190
Protein Interaction databases
DIP (DOE-UCLA)O15146
IntAct (EBI)O15146
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  collagen binding  ATP binding  integral component of plasma membrane  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 assembly at neuromuscular junction  positive regulation of gene expression  peptidyl-tyrosine phosphorylation  cell differentiation  neuromuscular junction  positive regulation of kinase activity  protein tyrosine kinase collagen receptor activity  collagen-activated tyrosine kinase receptor signaling pathway  receptor complex  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  collagen binding  ATP binding  integral component of plasma membrane  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 assembly at neuromuscular junction  positive regulation of gene expression  peptidyl-tyrosine phosphorylation  cell differentiation  neuromuscular junction  positive regulation of kinase activity  protein tyrosine kinase collagen receptor activity  collagen-activated tyrosine kinase receptor signaling pathway  receptor complex  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
Fusion : QuiverMUSK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMUSK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MUSK
dbVarMUSK
ClinVarMUSK
MonarchMUSK
1000_GenomesMUSK 
Exome Variant ServerMUSK
GNOMAD BrowserENSG00000030304
Varsome BrowserMUSK
ACMGMUSK variants
VarityO15146
Genomic Variants (DGV)MUSK [DGVbeta]
DECIPHERMUSK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMUSK 
Mutations
ICGC Data PortalMUSK 
TCGA Data PortalMUSK 
Broad Tumor PortalMUSK
OASIS PortalMUSK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMUSK  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMUSK
Mutations and Diseases : HGMDMUSK
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMUSK
DgiDB (Drug Gene Interaction Database)MUSK
DoCM (Curated mutations)MUSK
CIViC (Clinical Interpretations of Variants in Cancer)MUSK
Cancer3DMUSK
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM208150    601296    616325   
Orphanet1310    13930   
DisGeNETMUSK
MedgenMUSK
Genetic Testing Registry MUSK
NextProtO15146 [Medical]
GENETestsMUSK
Target ValidationMUSK
Huge Navigator MUSK [HugePedia]
ClinGenMUSK
Clinical trials, drugs, therapy
MyCancerGenomeMUSK
Protein Interactions : CTDMUSK
Pharm GKB GenePA31326
PharosO15146
Clinical trialMUSK
Miscellaneous
canSAR (ICR)MUSK
HarmonizomeMUSK
DataMed IndexMUSK
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMUSK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:21:39 CEST 2021
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