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	HCN3 LOC105371451 FDPS PKLR
nsv831636	Chr.1:155249432 - 155475073 on Build GRCh38	Loss	HCN3 RUSC1-AS1 LOC105371451 MIR555 FDPS RUSC1 ASH1L PKLR POU5F1P4 FAM189B SCAMP3 CLK2
esv33869	Chr.1:155253492 - 155948170 on Build GRCh38	Loss	HCN3 LOC100505728 FDPS SNORA80E RUSC1 KIAA0907 PKLR SCAMP3 SCARNA4 RUSC1-AS1 MSTO1 RXFP4 FAM189B SCARNA26B GON4L DAP3 LOC105371451 POU5F1P4 RIT1 ASH1L-AS1 ARHGEF2 SCARNA26A MIR555 ASH1L SYT11 YY1AP1 MSTO2P CLK2
nsv952214	Chr.1:155279610 - 155304509 on Build GRCh38	Deletion	HCN3 PKLR
nsv436027	Chr.1:155260761 - 155291532 on Build GRCh38	Insertion	HCN3 PKLR SCAMP3 CLK2
esv23319	Chr.1:155257268 - 155292883 on Build GRCh38	Gain	HCN3 PKLR SCAMP3 CLK2
dgv3n68	Chr.1:155122502 - 155343618 on Build GRCh38	Loss	KRTCAP2 HCN3 GBAP1 MIR92B TRIM46 LOC105371451 FDPS RUSC1 PKLR SCAMP3 DPM3 THBS3 MUC1 GBA RUSC1-AS1 MTX1 SLC50A1 ASH1L EFNA1 FAM189B CLK2

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