Hs02244480_cn

• Gene Symbol: PDPK1
• Assay Reference Genome Location: Chr.16:2598824 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	2666	NP_001248745.1
	NM_002613.4	14	2877	NP_002604.1
	NM_031268.5	11	2496	NP_112558.2
	XM_011522521.2	14	6565	XP_011520823.1
	XM_011522523.2	11	6189	XP_011520825.1
	XM_017023271.1	13	6945	XP_016878760.1
	XM_017023272.1	13	3501	XP_016878761.1
	XM_017023273.1	13	3210	XP_016878762.1
	XM_017023274.1	14	3348	XP_016878763.1
	XM_017023275.1	10	6570	XP_016878764.1
	XM_017023276.1	10	2814	XP_016878765.1
	XM_017023277.1	11	2912	XP_016878766.1
	BC033494.1	11	2409	AAH33494.1

Target Copy Number Variation Details

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

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

More Information

Additional Information:

For this assay, SNP(s) [rs78560075] 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