Hs01636578_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48968601 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	2950	NP_001155059.1
	NM_002103.4	16	3142	NP_002094.2
	NR_027763.1	15	2960
	BC002617.2	16	3081	AAH02617.1
	BC003182.1	15	2907	AAH03182.1
	BC007688.2	16	3068	AAH07688.1
	J04501.1	16	3061	AAA88046.1
	U32573.1	16	3040	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	PNKP CGB3 FAM83E CA11 FUZ IL4I1 LHB CGB5 ATF5 MIR4750 SIGLEC16 SNAR-A8 EMP3 TSKS SNAR-A1 SNAR-A13 PTOV1 SNAR-A11 IRF3 SNAR-A7 CPT1C SNAR-C3 PLA2G4C NUCB1 MAMSTR CCDC114 LOC105372430 CGB8 MIR6798 SNORD33 PLA2G4C-AS1 NOSIP TRPM4 KCNJ14 SNAR-A10 MIR6799 CARD8 SNAR-A5 FUT2 RPL18 MIR4751 MIR6800 IZUMO1 GFY SNAR-C4 SNAR-C1 SNAR-D C19orf73 SNORD34 AKT1S1 CD37 GYS1 MIR5088 CARD8-AS1 SYNGR4 FTL RPL13A RRAS SNAR-C2 ALDH16A1 BAX LIN7B PRRG2 PPFIA3 AP2A1 ZNF473 PLEKHA4 VRK3 ADM5 SNAR-A3 CGB1 RCN3 TULP2 SNAR-A9 NUCB1-AS1 BCL2L12 CGB7 SPHK2 SNORD32A RPS11 PTOV1-AS2 SNORD35B PTH2 SCAF1 SULT2B1 GRIN2D SNAR-G2 HSD17B14 KDELR1 KCNA7 FUT1 C19orf68 FCGRT HRC SNRNP70 SLC6A16 MIR4324 SEC1P LMTK3 SNAR-B2 LOC101059948 FGF21 RUVBL2 SNAR-A12 TMEM143 DHDH SNAR-G1 PIH1D1 SNAR-C5 BCAT2 TEAD2 RASIP1 PTOV1-AS1 SNAR-B1 CABP5 ZNF114 PPP1R15A SPACA4 MED25 DBP CGB2 LOC100287477 BSPH1 CCDC155 CYTH2 FLJ26850 LOC105447645 NTF4 NUP62 SNAR-A2 SNAR-A4 DKKL1 SNORD35A SLC17A7 LIG1 PRMT1 MIR150 MIR4749 SIGLEC11 ELSPBP1 GRWD1 NTN5 PRR12 FLT3LG LOC101928295 SNAR-A6 SNAR-A14 TBC1D17
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	MIR6798 FTL LOC101059948 BAX RUVBL2 LHB GYS1
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB3 NTF4 NUCB1-AS1 FTL NUCB1 CGB7 BAX LIN7B LHB CGB5 SNRNP70 PPFIA3 CGB8 CGB2 MIR6798 SNAR-G2 C19orf73 LOC101059948 RUVBL2 KCNA7 GYS1 CGB1 DHDH SNAR-G1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	CGB3 NTF4 FTL CGB7 BAX LHB CGB5 SNRNP70 CGB8 CGB2 MIR6798 SNAR-G2 LOC101059948 RUVBL2 KCNA7 GYS1 CGB1 SNAR-G1
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	PLEKHA4 NUCB1-AS1 FTL NUCB1 BAX PPP1R15A GYS1 DHDH TULP2

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