Hs02036960_cn

• Gene Symbol: PDK1
• Assay Reference Genome Location: Chr.2:172595956 on build GRCh38
• Cytoband: 2q31.1

Target Gene Details

• Entrez Gene ID: 5163
• Gene Name: pyruvate dehydrogenase kinase 1
• Gene Aliases: -
• Location: Chr.2:172555373-172672693 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDK1	NM_001278549.1	12	1540	NP_001265478.1
	NM_002610.4	11	1480	NP_002601.1
	NR_103729.1	11	1480
	NR_103731.1	11	1449
	XM_006712595.3	9	805	XP_006712658.1
	XM_011511343.2	12	1302	XP_011509645.1
	XM_011511344.2	12	1187	XP_011509646.1
	XM_011511345.2	11	1242	XP_011509647.1
	XM_011511347.2	12	1187	XP_011509649.1
	AK294194.1	12	1276
	AK302321.1	11	1450
	AK304388.1	12	1412
	AK312700.1
	BC039158.1	11	1341	AAH39158.1
	DQ234350.1			ABB29979.1
	L42450.1	11	1422	AAC42009.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3035	Chr.2:172554330 - 172599173 on Build GRCh38	Deletion	PDK1
nsv583665	Chr.2:172595912 - 172778359 on Build GRCh38	Gain	RAPGEF4 RAPGEF4-AS1 PDK1
esv2760591	Chr.2:172532177 - 172854792 on Build GRCh38	Gain	RAPGEF4 RAPGEF4-AS1 PDK1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

glucose metabolic process
protein phosphorylation
cell proliferation
intrinsic apoptotic signaling pathway in response to oxidative stress
regulation of acetyl-CoA biosynthetic process from pyruvate
regulation of glucose metabolic process
hypoxia-inducible factor-1alpha signaling pathway
mitophagy in response to mitochondrial depolarization

Function(s)

protein kinase activity
pyruvate dehydrogenase (acetyl-transferring) kinase activity
protein binding
ATP binding