Hs04534259_cn

• Gene Symbol: FPGT-TNNI3K
• Assay Reference Genome Location: Chr.1:74276740 on build GRCh38
• Cytoband: 1p31.1

Target Gene Details

• Entrez Gene ID: 100526835
• Gene Name: FPGT-TNNI3K readthrough
• Gene Aliases: -
• Location: Chr.1:74198212-74544432 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FPGT-TNNI3K	NM_001112808.2			NP_001106279.2
	NM_001199327.1			NP_001186256.2
	AB208941.1			BAD92178.1
	BC032865.1			AAH32865.1
	BX640903.1			CAE45949.1

Target Gene Details

• Entrez Gene ID: 51086
• Gene Name: TNNI3 interacting kinase
• Gene Aliases: CARK, CCDD
• Location: Chr.1:74235387-74544432 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TNNI3K	NM_015978.2			NP_057062.1
	AF116826.1			AAD29632.1
	AK307984.1
	AY303691.1			AAP72030.1
	BC113539.1
	BC117262.1
	BX502807.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv523474	Chr.1:74233415 - 74328435 on Build GRCh38	Loss	FPGT-TNNI3K TNNI3K
nsv1002115	Chr.1:72379872 - 74933684 on Build GRCh38	Gain	FPGT-TNNI3K TNNI3K ERICH3 FPGT TYW3 LOC105378803 LRRIQ3 LINC01360 CRYZ LOC339468 ERICH3-AS1
nsv522147	Chr.1:73872847 - 74518151 on Build GRCh38	Loss	FPGT-TNNI3K TNNI3K FPGT LOC105378803 LRRIQ3

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

regulation of heart rate
protein phosphorylation
regulation of cardiac muscle contraction
bundle of His cell to Purkinje myocyte communication
regulation of cardiac conduction

Function(s)

protein kinase activity
protein serine/threonine kinase activity
protein binding
ATP binding
protein C-terminus binding
troponin I binding
metal ion binding