Hs00128108_cn

• Gene Symbol: TTN
• Assay Reference Genome Location: Chr.2:178528982 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 361

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTN	NM_001256850.1	310	102071	NP_001243779.1
	NM_001267550.2	360	106994	NP_001254479.2
	NM_003319.4	188	79799	NP_003310.4
	NM_133378.4	309	99290	NP_596869.4
	NM_133432.3	189	80174	NP_597676.3
	NM_133437.4	189	80375	NP_597681.4
	XM_017004819.1	356	105887	XP_016860308.1
	XM_017004820.1	333	101285	XP_016860309.1
	XM_017004821.1	333	101282	XP_016860310.1
	XM_017004822.1	271	98324	XP_016860311.1
	XM_017004823.1	189	79940	XP_016860312.1
	AL713647.1	3	2492	CAD28458.1
	X69490.1	22	12746	CAA49245.1
	X90568.1	188	79706	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	PLEKHA3 TTN-AS1 TTN
nsv834467	Chr.2:178393413 - 178566238 on Build GRCh38	Loss	PLEKHA3 TTN-AS1 TTN FKBP7 LOC101927027 DFNB59 PRKRA OSBPL6
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