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

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