Hs01279588_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48968388 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 2997
• Gene Name: glycogen synthase 1
• Gene Aliases: GSY, GYS
• Location: Chr.19:48968125-48993353 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GYS1	NM_001161587.1	15	3163	NP_001155059.1
	NM_002103.4	16	3355	NP_002094.2
	NR_027763.1	15	3173
	BC002617.2	16	3294	AAH02617.1
	BC003182.1	15	3120	AAH03182.1
	BC007688.2	16	3281	AAH07688.1
	J04501.1	16	3274	AAA88046.1
	U32573.1	16	3253	AAB60385.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SNORD32A FGF21 VRK3 ADM5 LOC105447645 NUP62 ZNF473 GFY IL4I1 SLC17A7 LMTK3 PPP1R15A NOSIP TEAD2 GRWD1 SNAR-C5 NUCB1 CGB8 CGB5 PNKP BAX SNAR-C3 CGB1 CPT1C MIR4751 C19orf68 DHDH TBC1D17 PIH1D1 TULP2 PTOV1-AS1 PLA2G4C-AS1 C19orf73 CGB7 SNAR-A4 FUT2 SIGLEC16 ATF5 LOC105372430 SNAR-B1 SNAR-A6 SNAR-A7 ZNF114 RPS11 SLC6A16 SNAR-A11 AP2A1 SNAR-C2 SCAF1 FTL DKKL1 GYS1 MIR4324 SNAR-A14 TRPM4 SNAR-G2 MIR4749 SNORD34 FCGRT KCNA7 PTOV1 GRIN2D BSPH1 TMEM143 SNORD33 SNAR-A3 RPL13A CGB2 SNAR-A13 ELSPBP1 NTF4 SEC1P SNRNP70 PRRG2 LIG1 PPFIA3 FUT1 MED25 RPL18 TSKS CABP5 SNAR-A12 IZUMO1 HRC PRMT1 RCN3 SNAR-D FAM83E KDELR1 LOC101928295 SNAR-A5 SNAR-C1 SNORD35B AKT1S1 LIN7B BCL2L12 SPHK2 SNORD35A MIR150 PLEKHA4 MIR6798 MIR6799 LOC100287477 SNAR-A1 PTH2 MAMSTR SNAR-C4 SNAR-A10 BCAT2 CARD8 HSD17B14 SULT2B1 RUVBL2 RASIP1 PLA2G4C FUZ SYNGR4 CYTH2 MIR6800 KCNJ14 MIR5088 PRR12 SNAR-B2 CCDC155 SIGLEC11 DBP SPACA4 NTN5 ALDH16A1 MIR4750 IRF3 PTOV1-AS2 FLT3LG SNAR-A8 CGB3 CA11 LOC101059948 NUCB1-AS1 RRAS SNAR-A2 CARD8-AS1 CCDC114 FLJ26850 EMP3 SNAR-G1 CD37 SNAR-A9 LHB
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	GYS1 BAX RUVBL2 MIR6798 FTL LOC101059948 LHB
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	PPFIA3 NUCB1 GYS1 CGB8 CGB5 C19orf73 CGB7 SNAR-G2 BAX LIN7B CGB3 MIR6798 CGB1 LOC101059948 NUCB1-AS1 KCNA7 CGB2 RUVBL2 SNAR-G1 DHDH NTF4 FTL SNRNP70 LHB
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	GYS1 CGB8 CGB5 CGB7 SNAR-G2 BAX CGB3 MIR6798 CGB1 LOC101059948 KCNA7 CGB2 RUVBL2 SNAR-G1 NTF4 FTL SNRNP70 LHB
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	NUCB1 GYS1 BAX DHDH PPP1R15A PLEKHA4 TULP2 FTL NUCB1-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs117997270] 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)

glycogen biosynthetic process
heart development

Function(s)

glycogen (starch) synthase activity
protein binding
glucose binding
protein kinase binding
glycogen synthase activity, transferring glucose-1-phosphate