Hs01733124_cn

• Gene Symbol: MYBPC3
• Assay Reference Genome Location: Chr.11:47343076 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 Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYBPC3	NM_000256.3	15	1351	NP_000247.2
	AK291569.1	15	1351
	AK297843.1	15	1351
	AL691822.1	4	211
	BC136543.1	15	1328
	BC136546.1	15	1328
	BC142685.1	15	1331
	BC151211.1	15	1334
	EF560722.1	15	1352
	EU747718.1	15	1351
	EU747719.1	15	1351

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 MYBPC3 MIR4487 MADD SLC39A13 PSMC3 CELF1 RAPSN
nsv509404	Chr.11:47335304 - 47371698 on Build GRCh38	Insertion	SPI1 MYBPC3

More Information

• Set Membership: Intragenic, 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