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

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