Hs00130113_cn

• Gene Symbol: TTN
• Assay Reference Genome Location: Chr.2:178526585 on build GRCh38
• Cytoband: 2q31.2

Target Gene Details

• Entrez Gene ID: 7273
• Gene Name: titin
• Gene Aliases: CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, TMD
• Location: Chr.2:178525989-178807423 on Build GRCh38
• Assay Gene Location: Within Exon 364

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTN	NM_001256850.1	313	103705	NP_001243779.1
	NM_001267550.2	363	108628	NP_001254479.2
	NM_003319.4	191	81433	NP_003310.4
	NM_133378.4	312	100924	NP_596869.4
	NM_133432.3	192	81808	NP_597676.3
	NM_133437.4	192	82009	NP_597681.4
	XM_017004819.1	359	107521	XP_016860308.1
	XM_017004820.1	336	102919	XP_016860309.1
	XM_017004821.1	336	102916	XP_016860310.1
	XM_017004822.1	274	99958	XP_016860311.1
	XM_017004823.1	192	81574	XP_016860312.1
	AL713647.1	6	4126	CAD28458.1
	BC107797.1	3	967	AAI07798.1
	X69490.1	25	14380	CAA49245.1
	X90568.1	191	81340	CAA62188.1

Target Gene Details

• Entrez Gene ID: 100506866
• Gene Name: TTN antisense RNA 1
• Gene Aliases: -
• Location: Chr.2:178522827-178620217 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTN-AS1	NR_038271.1
	NR_038272.1
	AK093733.1
	DB229458.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834468	Chr.2:178486389 - 178668898 on Build GRCh38	Gain	TTN-AS1 PLEKHA3 TTN
nsv834467	Chr.2:178393413 - 178566238 on Build GRCh38	Loss	TTN-AS1 PRKRA DFNB59 LOC101927027 PLEKHA3 OSBPL6 FKBP7 TTN
nsv954437	Chr.2:178523774 - 178531073 on Build GRCh38	Duplication	TTN-AS1 TTN

More Information

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

Gene Ontology Categories:

Process(es)

platelet degranulation
cardiac muscle hypertrophy
muscle contraction
striated muscle contraction
mitotic chromosome condensation
peptidyl-tyrosine phosphorylation
muscle filament sliding
skeletal muscle thin filament assembly
skeletal muscle myosin thick filament assembly
detection of muscle stretch
sarcomere organization
regulation of protein kinase activity
cardiac muscle fiber development
sarcomerogenesis
regulation of catalytic activity
response to calcium ion
cardiac myofibril assembly
cardiac muscle tissue morphogenesis
cardiac muscle contraction

Function(s)

protease binding
protein serine/threonine kinase activity
protein tyrosine kinase activity
calcium ion binding
protein binding
calmodulin binding
ATP binding
structural constituent of muscle
enzyme binding
protein kinase binding
telethonin binding
identical protein binding
actinin binding
protein self-association
actin filament binding
muscle alpha-actinin binding
structural molecule activity conferring elasticity