Hs01183968_cn

• Gene Symbol: AKT1S1
• Assay Reference Genome Location: Chr.19:49869231 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 84335
• Gene Name: AKT1 substrate 1
• Gene Aliases: Lobe, PRAS40
• Location: Chr.19:49869033-49878356 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AKT1S1	NM_001098632.2	5	1827	NP_001092102.1
	NM_001098633.3	5	1615	NP_001092103.1
	NM_001278159.1	5	1840	NP_001265088.1
	NM_001278160.1	5	1651	NP_001265089.1
	NM_032375.5	5	2249	NP_115751.3
	AK055511.1	5	1840	BAB70937.1
	AK092610.1	4	2184
	AK123687.1	5	2214
	BC000031.2	3	1044	AAH00031.2
	BC007416.2	5	2135	AAH07416.1
	BC015562.1	6	1419	AAH15562.1
	BC016043.1	6	1304	AAH16043.1
	BC051844.2	5	1719	AAH51844.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3644628	Chr.19:49861781 - 49908526 on Build GRCh38	Gain	IL4I1 TBC1D17 AKT1S1 PNKP MIR4750 NUP62
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	KCNJ14 PLA2G4C-AS1 SIGLEC11 LOC100287477 CGB5 RASIP1 FGF21 SNAR-A7 MAMSTR FUT1 FLJ26850 BAX FUT2 CD37 PRMT1 CA11 TULP2 SLC17A7 TRPM4 SNORD35B LMTK3 TBC1D17 PTOV1-AS1 LHB ALDH16A1 DKKL1 SNAR-A11 SNRNP70 LOC105447645 LOC105372430 NUCB1-AS1 CGB8 SNAR-C2 FUZ IZUMO1 DHDH CARD8-AS1 SNAR-B1 SNAR-B2 KDELR1 MIR5088 NTN5 CCDC114 LIG1 PTOV1-AS2 GYS1 PTH2 SNAR-C3 SNAR-D SNAR-A1 CGB7 RUVBL2 NTF4 TSKS ATF5 KCNA7 GRWD1 NUP62 SPACA4 MIR6799 MIR6798 TMEM143 MIR4750 MIR4749 TEAD2 SCAF1 RPL13A PPFIA3 CPT1C SNORD35A PTOV1 SNAR-A4 LOC101059948 PPP1R15A SNORD34 SNORD33 ELSPBP1 GFY FAM83E FCGRT CYTH2 SULT2B1 PNKP SEC1P SNAR-C5 CGB1 SYNGR4 SNAR-A14 C19orf68 NOSIP SNAR-A8 ADM5 VRK3 C19orf73 RPS11 SNAR-A12 DBP FTL ZNF473 SNAR-C1 SNAR-A10 NUCB1 AKT1S1 SPHK2 MIR6800 MIR150 CABP5 IRF3 CGB2 EMP3 CARD8 HSD17B14 MIR4751 BSPH1 SNORD32A AP2A1 SNAR-G2 LOC101928295 SNAR-G1 PIH1D1 HRC GRIN2D PRR12 BCAT2 MIR4324 SNAR-A9 MED25 ZNF114 RPL18 SNAR-C4 PLEKHA4 SIGLEC16 PRRG2 SNAR-A3 CCDC155 IL4I1 SLC6A16 RCN3 RRAS SNAR-A13 SNAR-A6 SNAR-A2 LIN7B PLA2G4C BCL2L12 SNAR-A5 FLT3LG CGB3
nsv526372	Chr.19:49853907 - 49877601 on Build GRCh38	Loss	TBC1D17 PTOV1-AS2 AKT1S1 PTOV1 PNKP MIR4749
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	TBC1D17 PTOV1-AS2 PTOV1-AS1 AKT1S1 MIR6799 MED25 MIR6800 PNKP MIR4750 MIR4749 TSKS MIR4751 IL4I1 ATF5 FUZ AP2A1 PTOV1 NUP62
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	PTOV1-AS2 AKT1S1 MIR6800 PNKP IRF3 TSKS MIR4751 ATF5 PRMT1 AP2A1 NOSIP NUP62 TBC1D17 PRR12 PTOV1-AS1 MIR6799 MED25 ADM5 MIR4750 MIR4749 PRRG2 SCAF1 CPT1C IL4I1 FUZ RRAS PTOV1 MIR5088 BCL2L12
dgv54n68	Chr.19:49848512 - 50008788 on Build GRCh38	Loss	TBC1D17 PTOV1-AS2 PTOV1-AS1 AKT1S1 SIGLEC11 PNKP VRK3 MIR4750 MIR4749 SIGLEC16 MIR4751 IL4I1 ATF5 PTOV1 NUP62

More Information

Additional Information:

For this assay, SNP(s) [rs115668062] 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

Gene Ontology Categories:

Process(es)

negative regulation of protein kinase activity
negative regulation of TOR signaling
regulation of neuron apoptotic process
negative regulation of cell size
neurotrophin TRK receptor signaling pathway
regulation of cellular response to heat

Function(s)

protein binding