Hs06284826_cn

• Gene Symbol: MYBPC3
• Assay Reference Genome Location: Chr.11:47345236 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 4607
• Gene Name: myosin binding protein C, cardiac
• Gene Aliases: CMD1MM, CMH4, FHC, LVNC10, MYBP-C
• Location: Chr.11:47331406-47352702 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYBPC3	NM_000256.3			NP_000247.2
	AK291569.1
	AK297843.1
	AL691822.1
	BC136543.1
	BC136546.1
	BC142685.1
	BC151211.1
	EF560722.1
	EU747718.1
	EU747719.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832141	Chr.11:47311629 - 47499441 on Build GRCh38	Loss	SPI1 MADD RAPSN MIR4487 PSMC3 SLC39A13 CELF1 MYBPC3
nsv509404	Chr.11:47335304 - 47371698 on Build GRCh38	Insertion	SPI1 MYBPC3

More Information

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

Gene Ontology Categories:

Process(es)

heart morphogenesis
regulation of striated muscle contraction
cell adhesion
muscle filament sliding
positive regulation of ATPase activity
regulation of muscle filament sliding
ventricular cardiac muscle tissue morphogenesis
cardiac muscle contraction

Function(s)

ATPase activator activity
actin binding
protein binding
structural constituent of muscle
myosin binding
titin binding
myosin heavy chain binding
identical protein binding
metal ion binding