Hs03769596_cn

• Gene Symbol: KCNQ1
• Assay Reference Genome Location: Chr.11:2840612 on build GRCh38
• Cytoband: 11p15.4

Target Gene Details

• Entrez Gene ID: 3784
• Gene Name: potassium voltage-gated channel subfamily Q member 1
• Gene Aliases: ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS
• Location: Chr.11:2444991-2849110 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNQ1	NM_000218.2			NP_000209.2
	NM_181798.1			NP_861463.1
	AF000571.1			AAC51776.1
	AF051426.1			AAC05705.1
	AK129678.1
	AK290618.1
	BC017074.1			AAH17074.1
	BC113545.1
	U89364.1			AAC51781.1

Target Gene Details

• Entrez Gene ID: 338653
• Gene Name: KCNQ1 antisense RNA 1
• Gene Aliases: -
• Location: Chr.11:2840135-2861569 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNQ1-AS1	NR_130721.1
	AJ251642.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv951292	Chr.11:2792271 - 2927870 on Build GRCh38	Deletion	KCNQ1 KCNQ1-AS1 SLC22A18 KCNQ1DN CDKN1C SLC22A18AS
esv2759795	Chr.11:2767814 - 2942382 on Build GRCh38	Gain	KCNQ1 KCNQ1-AS1 PHLDA2 SLC22A18 KCNQ1DN CDKN1C SLC22A18AS
nsv469930	Chr.11:2831299 - 2924715 on Build GRCh38	Loss	KCNQ1 KCNQ1-AS1 SLC22A18 KCNQ1DN CDKN1C SLC22A18AS
nsv1053066	Chr.11:2829552 - 2872696 on Build GRCh38	Gain	KCNQ1 KCNQ1-AS1 KCNQ1DN
nsv8764	Chr.11:2831869 - 2843176 on Build GRCh38	Gain	KCNQ1 KCNQ1-AS1

More Information

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

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

positive regulation of defense response to virus by host
regulation of gene expression by genetic imprinting
sensory perception of sound
regulation of heart contraction
positive regulation of heart rate
gene silencing
cellular response to drug
inner ear development
intestinal absorption
cardiac muscle contraction
regulation of membrane repolarization
regulation of ventricular cardiac muscle cell membrane repolarization
regulation of atrial cardiac muscle cell membrane repolarization
positive regulation of cardiac muscle contraction
regulation of gastric acid secretion
cardiac conduction
renal absorption
cellular response to cAMP
potassium ion export
potassium ion transmembrane transport
cellular response to epinephrine stimulus
cardiovascular system development
ventricular cardiac muscle cell action potential
membrane repolarization during action potential
membrane repolarization during cardiac muscle cell action potential
atrial cardiac muscle cell action potential
regulation of heart rate by cardiac conduction
potassium ion export across plasma membrane
xenophagy
membrane repolarization during ventricular cardiac muscle cell action potential
positive regulation of potassium ion transmembrane transport

Function(s)

voltage-gated potassium channel activity
delayed rectifier potassium channel activity
protein binding
calmodulin binding
phosphatidylinositol-4,5-bisphosphate binding
protein phosphatase 1 binding
outward rectifier potassium channel activity
protein kinase A catalytic subunit binding
protein kinase A regulatory subunit binding
ion channel binding
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
scaffold protein binding
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization