Hs00385948_cn

• Gene Symbol: PDPK1
• Assay Reference Genome Location: Chr.16:2599188 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 5170
• Gene Name: 3-phosphoinositide dependent protein kinase 1
• Gene Aliases: PDK1, PDPK2, PDPK2P, PRO0461
• Location: Chr.16:2537964-2603190 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDPK1	NM_001261816.1	12	3030	NP_001248745.1
	NM_002613.4	14	3241	NP_002604.1
	NM_031268.5	11	2860	NP_112558.2
	XM_011522521.2	14	6929	XP_011520823.1
	XM_011522523.2	11	6553	XP_011520825.1
	XM_017023271.1	13	7309	XP_016878760.1
	XM_017023272.1	13	3865	XP_016878761.1
	XM_017023273.1	13	3574	XP_016878762.1
	XM_017023274.1	14	3712	XP_016878763.1
	XM_017023275.1	10	6934	XP_016878764.1
	XM_017023276.1	10	3178	XP_016878765.1
	XM_017023277.1	11	3276	XP_016878766.1
	BC033494.1	11	2773	AAH33494.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv33514	Chr.16:2599043 - 2687260 on Build GRCh38	Gain+Loss	KCTD5 LOC652276 FLJ42627 PDPK1 ERVK13-1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	UBE2I EME2 RPS2 TELO2 LMF1-AS1 RGS11 MAPK8IP3 LUC7L TPSB2 LOC652276 SSTR5 NARFL FAM173A STUB1 GNPTG TPSG1 CRAMP1 RHBDF1 SSTR5-AS1 CHTF18 LOC107984876 HAGH LINC00235 FBXL16 SOX8 MPG ERVK13-1 LOC729652 HBM METTL26 HBZ SNRNP25 FAM234A MEIOB RAB26 AMDHD2 PRSS27 GNG13 SNORA10 JMJD8 C1QTNF8 LOC106660606 MIR1225 RAB11FIP3 LOC105371049 MSLN PTX4 SNHG19 IGFALS HS3ST6 C16orf59 DDX11L10 MCRIP2 NPRL3 WDR24 GFER NME3 PDPK1 PIGQ MIR662 METRN PRR35 PGP PRSS29P LOC105371046 LOC105371184 CLCN7 MIR6511B1 TPSAB1 SNORD60 MIR3677 MIR4516 HN1L SPSB3 WFIKKN1 CCDC78 CCNF MIR5587 MIR4717 LOC101929280 LINC00254 BAIAP3 NOXO1 LOC100134368 LOC107987233 ABCA17P PRR25 MIR3176 WASIR2 SYNGR3 WDR90 NUBP2 CAPN15 ABCA3 C16orf91 RPUSD1 HAGHL MIR940 FAHD1 RHBDL1 ECI1 RNPS1 DECR2 MRPL28 TBL3 IFT140 MIR3180-5 SNHG9 RNF151 HBA2 MIR6768 TBC1D24 NDUFB10 SLC9A3R2 PDIA2 HBQ1 BRICD5 RPL23AP5 MIR3177 TRAF7 LOC105371045 NME4 CCDC154 CACNA1H TSC2 HBA1 LMF1 KCTD5 E4F1 MIR3178 MIR6859-4 PKD1 RHOT2 NPW MSRB1 RPL3L RAB40C MLST8 TPSD1 MIR6767 AXIN1 SNORA78 DNASE1L2 FLJ42627 NTHL1 SNORA64 ATP6V0C POLR3K MRPS34 CEMP1 ARHGDIG UNKL NHLRC4 TSR3 TMEM8A LOC105371038 ZNF598 NTN3 TMEM204 LOC100287175 CASKIN1 LOC105371047
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	SRRM2 KCTD5 PRSS33 MIR3178 FLJ42627 ATP6V0C ERVK13-1 PRSS41 SRRM2-AS1 TBC1D24 CEMP1 LOC652276 PDPK1 TCEB2 AMDHD2 PRSS27 PRSS21
dgv2693n100	Chr.16:2593295 - 2676863 on Build GRCh38	Gain	LOC652276 FLJ42627 PDPK1 ERVK13-1
esv3637634	Chr.16:2586284 - 2610862 on Build GRCh38	Gain	LOC652276 PDPK1
nsv833122	Chr.16:2501717 - 2663937 on Build GRCh38	Loss	LOC652276 MIR3178 FLJ42627 PDPK1 ATP6V0C ERVK13-1 AMDHD2 TBC1D24 CEMP1
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	ABCA17P LOC106660606 E4F1 MIR1225 MIR3178 LOC105371049 PKD1 SNHG19 C16orf59 ABCA3 LOC652276 PDPK1 MLST8 MIR940 ECI1 RNPS1 PGP MIR6767 MIR6511B1 DNASE1L2 SNORD60 MIR3677 MIR4516 MIR3180-5 ATP6V0C LOC729652 MIR6768 TBC1D24 CEMP1 CCNF BRICD5 MIR4717 TRAF7 RAB26 NTN3 AMDHD2 CASKIN1 TSC2
nsv833123	Chr.16:2561247 - 2764988 on Build GRCh38	Gain+Loss	SRRM2 KCTD5 LOC652276 FLJ42627 PDPK1 ERVK13-1 PRSS27 SRRM2-AS1
dgv780e212	Chr.16:2595646 - 2700191 on Build GRCh38	Gain	KCTD5 LOC652276 FLJ42627 PDPK1 ERVK13-1

More Information

Additional Information:

For this assay, SNP(s) [rs149315179] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

stimulatory C-type lectin receptor signaling pathway
type B pancreatic cell development
transcription, DNA-templated
regulation of transcription, DNA-templated
protein phosphorylation
negative regulation of protein kinase activity
hyperosmotic response
epidermal growth factor receptor signaling pathway
positive regulation of phospholipase activity
regulation of endothelial cell migration
negative regulation of cardiac muscle cell apoptotic process
cell migration
peptidyl-serine phosphorylation
peptidyl-threonine phosphorylation
calcium-mediated signaling
actin cytoskeleton organization
platelet activation
negative regulation of transforming growth factor beta receptor signaling pathway
T cell costimulation
activation of protein kinase B activity
cellular response to insulin stimulus
negative regulation of toll-like receptor signaling pathway
intracellular signal transduction
Fc-epsilon receptor signaling pathway
regulation of I-kappaB kinase/NF-kappaB signaling
regulation of mast cell degranulation
protein autophosphorylation
phosphatidylinositol-mediated signaling
focal adhesion assembly
T cell receptor signaling pathway
positive regulation of release of sequestered calcium ion into cytosol
cellular response to epidermal growth factor stimulus
positive regulation of establishment of protein localization to plasma membrane
extrinsic apoptotic signaling pathway

Function(s)

protein serine/threonine kinase activity
3-phosphoinositide-dependent protein kinase activity
insulin receptor binding
protein binding
ATP binding
phospholipase activator activity
kinase activity
protein kinase binding
phospholipase binding