Hs02732564_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48968807 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	2744	NP_001155059.1
	NM_002103.4	16	2936	NP_002094.2
	NR_027763.1	15	2754
	AK291672.1	16	2892
	BC002617.2	16	2875	AAH02617.1
	BC003182.1	15	2701	AAH03182.1
	BC007688.2	16	2862	AAH07688.1
	J04501.1	16	2855	AAA88046.1
	U32573.1	16	2834	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	FLT3LG FCGRT SNAR-C3 CABP5 CGB8 RPS11 SNAR-C4 CD37 SNAR-D LIN7B SNRNP70 MIR4751 MIR150 ADM5 DKKL1 SNAR-C2 RPL13A LOC105372430 PTOV1-AS1 SEC1P NUP62 KDELR1 PTH2 RPL18 LIG1 BSPH1 PLA2G4C RUVBL2 SNAR-A12 IZUMO1 IL4I1 KCNJ14 SLC6A16 ATF5 LOC100287477 LOC101059948 SNAR-C5 SNAR-A10 SNAR-G1 PTOV1 HSD17B14 TEAD2 C19orf68 SNAR-A13 FUZ FAM83E EMP3 LMTK3 MAMSTR NUCB1-AS1 SNAR-A3 SYNGR4 DHDH MIR5088 BCAT2 CGB2 RCN3 SLC17A7 PNKP ZNF114 RRAS SNAR-A4 FTL NTN5 SIGLEC16 MIR4750 VRK3 FUT2 BAX SULT2B1 GRIN2D CARD8 LOC105447645 SNAR-A1 KCNA7 SNAR-A8 CGB7 PTOV1-AS2 RASIP1 TSKS AKT1S1 CGB5 SNAR-B1 FUT1 SNAR-A7 PPP1R15A CPT1C SNAR-A9 TULP2 SCAF1 SIGLEC11 MIR4324 SNAR-A5 SNAR-A11 GYS1 SNAR-A6 SNORD33 CYTH2 SNORD32A TRPM4 SPACA4 CGB1 MIR6799 MED25 PLEKHA4 ELSPBP1 NOSIP DBP AP2A1 FLJ26850 TBC1D17 SNORD35A CGB3 MIR6800 IRF3 TMEM143 PRRG2 SNORD34 CCDC155 SNAR-A2 PPFIA3 BCL2L12 SNAR-C1 GFY NTF4 CCDC114 C19orf73 LOC101928295 MIR6798 SPHK2 SNAR-G2 PIH1D1 GRWD1 CA11 ZNF473 NUCB1 PRMT1 HRC LHB ALDH16A1 CARD8-AS1 SNAR-A14 MIR4749 PRR12 PLA2G4C-AS1 FGF21 SNORD35B SNAR-B2
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	MIR6798 LOC101059948 BAX LHB GYS1 RUVBL2 FTL
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	MIR6798 BAX SNAR-G2 NUCB1-AS1 RUVBL2 CGB8 PPFIA3 KCNA7 DHDH CGB7 LIN7B NUCB1 CGB2 SNRNP70 LOC101059948 CGB3 SNAR-G1 LHB GYS1 NTF4 C19orf73 FTL CGB5 CGB1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	MIR6798 BAX SNAR-G2 RUVBL2 CGB8 KCNA7 CGB7 CGB2 SNRNP70 LOC101059948 CGB3 SNAR-G1 LHB GYS1 NTF4 FTL CGB5 CGB1
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	BAX PPP1R15A GYS1 NUCB1-AS1 FTL TULP2 DHDH NUCB1 PLEKHA4

More Information

• 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