Hs04500405_cn

• Gene Symbol: KCNE1
• Assay Reference Genome Location: Chr.21:34505899 on build GRCh38
• Cytoband: 21q22.12

Target Gene Details

• Entrez Gene ID: 3753
• Gene Name: potassium voltage-gated channel subfamily E regulatory subunit 1
• Gene Aliases: ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
• Location: Chr.21:34446688-34512275 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNE1	NM_000219.5			NP_000210.2
	NM_001270402.2			NP_001257331.1
	NM_001270403.2			NP_001257332.1
	NM_001270404.2			NP_001257333.1
	AK304336.1
	BC046224.1			AAH46224.1
	DA418828.1
	DB214219.1
	DB223354.1
	DB230009.1
	DB233067.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv7824n54	Chr.21:34352440 - 34535115 on Build GRCh38	Gain	KCNE1 SMIM11A RCAN1 KCNE2 C21orf140 LOC105372793 LOC388820
dgv4426n100	Chr.21:34339322 - 34534919 on Build GRCh38	Gain	KCNE1 SMIM11A RCAN1 KCNE2 C21orf140 LOC105372793 LOC388820
nsv521323	Chr.21:34384531 - 34515061 on Build GRCh38	Gain	KCNE1 SMIM11A C21orf140 LOC105372793 LOC388820
nsv1055429	Chr.21:34299853 - 34516938 on Build GRCh38	Gain	KCNE1 SMIM11A RCAN1 KCNE2 C21orf140 LOC105372793 LOC388820
esv3575386	Chr.21:34353927 - 34534570 on Build GRCh38	Gain	KCNE1 SMIM11A RCAN1 KCNE2 C21orf140 LOC105372793 LOC388820
esv2762109	Chr.21:34350696 - 34531755 on Build GRCh38	Gain	KCNE1 SMIM11A RCAN1 KCNE2 C21orf140 LOC105372793 LOC388820

More Information

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

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

protein N-linked glycosylation
protein O-linked glycosylation
sensory perception of sound
regulation of ventricular cardiac muscle cell membrane repolarization
cardiac conduction
cellular response to cAMP
potassium ion export
potassium ion transmembrane transport
cardiac muscle cell action potential involved in contraction
ventricular cardiac muscle cell action potential
membrane repolarization
membrane repolarization during action potential
membrane repolarization during cardiac muscle cell action potential
regulation of heart rate by cardiac conduction
negative regulation of protein targeting to membrane
membrane repolarization during ventricular cardiac muscle cell action potential
regulation of potassium ion transmembrane transport
positive regulation of potassium ion transmembrane transport
regulation of delayed rectifier potassium channel activity
negative regulation of delayed rectifier potassium channel activity

Function(s)

voltage-gated potassium channel activity
delayed rectifier potassium channel activity
protein binding
potassium channel regulator activity
telethonin binding
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization