Hs01720743_cn

• Gene Symbol: HCN3
• Assay Reference Genome Location: Chr.1:155289413 on build GRCh38
• Cytoband: 1q22

Target Gene Details

• Entrez Gene ID: 57657
• Gene Name: hyperpolarization activated cyclic nucleotide gated potassium channel 3
• Gene Aliases: -
• Location: Chr.1:155277427-155289848 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HCN3	NM_020897.2	8	3439	NP_065948.1
	XM_011509816.2	8	3957	XP_011508118.1
	XM_011509817.2	7	3277	XP_011508119.1
	XM_011509818.2	7	2669	XP_011508120.1
	XM_017001918.1	7	2651	XP_016857407.1
	AB040968.2	8	3088	BAA96059.2
	AK055840.1
	BC000066.1	7	2667	AAH00066.1
	BC028024.1	5	2304	AAH28024.2

Target Gene Details

• Entrez Gene ID: 5313
• Gene Name: pyruvate kinase, liver and RBC
• Gene Aliases: PK1, PKL, PKR, PKRL, RPK
• Location: Chr.1:155289293-155301434 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PKLR	NM_000298.5	11	2923	NP_000289.1
	NM_181871.3	11	2905	NP_870986.1
	BF110802.1	1	131

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3032	Chr.1:155285619 - 155318185 on Build GRCh38	Insertion	PKLR FDPS HCN3 LOC105371451
nsv831636	Chr.1:155249432 - 155475073 on Build GRCh38	Loss	PKLR ASH1L POU5F1P4 FDPS CLK2 FAM189B RUSC1-AS1 SCAMP3 MIR555 HCN3 LOC105371451 RUSC1
esv33869	Chr.1:155253492 - 155948170 on Build GRCh38	Loss	PKLR CLK2 YY1AP1 SCAMP3 DAP3 LOC100505728 RIT1 SCARNA4 KIAA0907 RUSC1-AS1 SCARNA26A MIR555 SNORA80E RXFP4 HCN3 MSTO2P SCARNA26B LOC105371451 ARHGEF2 ASH1L POU5F1P4 FDPS FAM189B GON4L SYT11 ASH1L-AS1 MSTO1 RUSC1
nsv436027	Chr.1:155260761 - 155291532 on Build GRCh38	Insertion	PKLR CLK2 SCAMP3 HCN3
nsv952214	Chr.1:155279610 - 155304509 on Build GRCh38	Deletion	PKLR HCN3
esv2758971	Chr.1:155122502 - 155345016 on Build GRCh38	Gain	PKLR DPM3 KRTCAP2 THBS3 SLC50A1 CLK2 RUSC1-AS1 MIR92B SCAMP3 HCN3 MUC1 LOC105371451 ASH1L EFNA1 GBA FDPS FAM189B GBAP1 MTX1 TRIM46 RUSC1
esv23319	Chr.1:155257268 - 155292883 on Build GRCh38	Gain	PKLR CLK2 SCAMP3 HCN3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel, transporter, kinase

Gene Ontology Categories:

Process(es)

regulation of ion transmembrane transport
sodium ion transmembrane transport
regulation of membrane potential
regulation of postsynaptic membrane potential
cellular response to cAMP
potassium ion transmembrane transport
response to cisplatin
cellular response to dopamine
response to hypoxia
ATP biosynthetic process
response to nutrient
response to heat
response to glucose
response to lithium ion
cellular response to insulin stimulus
response to ATP
pyruvate biosynthetic process
response to cAMP
canonical glycolysis

Function(s)

voltage-gated sodium channel activity
voltage-gated potassium channel activity
cAMP binding
magnesium ion binding
pyruvate kinase activity
ATP binding
kinase activity
potassium ion binding