Hs05091167_cn

• Gene Symbol: MUSK
• Assay Reference Genome Location: Chr.9:110691431 on build GRCh38
• Cytoband: 9q31.3

Target Gene Details

• Entrez Gene ID: 4593
• Gene Name: muscle associated receptor tyrosine kinase
• Gene Aliases: CMS9, FADS
• Location: Chr.9:110668189-110806633 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MUSK	NM_001166280.1			NP_001159752.1
	NM_001166281.1			NP_001159753.1
	NM_005592.3			NP_005583.1
	XM_005251994.3			XP_005252051.1
	XM_005251995.3			XP_005252052.1
	XM_005251996.3			XP_005252053.1
	XM_017014734.1			XP_016870223.1
	AA448972.1
	AF006464.1			AAB63044.1
	BC109098.1			AAI09099.1
	BC109099.1			AAI09100.1
	BG825304.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv466482	Chr.9:110379729 - 110713825 on Build GRCh38	Gain	MUSK SVEP1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

positive regulation of protein phosphorylation
transmembrane receptor protein tyrosine kinase signaling pathway
multicellular organism development
neuromuscular junction development
memory
regulation of synaptic growth at neuromuscular junction
positive regulation of gene expression
peptidyl-tyrosine phosphorylation
cell differentiation
protein autophosphorylation
skeletal muscle acetylcholine-gated channel clustering
positive regulation of protein geranylgeranylation

Function(s)

protein tyrosine kinase activity
transmembrane receptor protein tyrosine kinase activity
protein binding
ATP binding
metal ion binding