Hs02364988_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48969083 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	2468	NP_001155059.1
	NM_002103.4	16	2660	NP_002094.2
	NR_027763.1	15	2478
	AK291672.1	16	2616
	AK302738.1	15	2434
	BC002617.2	16	2599	AAH02617.1
	BC003182.1	15	2425	AAH03182.1
	BC007688.2	16	2586	AAH07688.1
	J04501.1	16	2579	AAA88046.1
	U32573.1	16	2558	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	RPL18 C19orf73 ALDH16A1 HSD17B14 CARD8-AS1 LHB FUT2 MIR4751 IL4I1 MIR4750 CCDC114 NUCB1 PLA2G4C SNAR-C5 MED25 RPL13A KCNA7 PLEKHA4 CGB3 CGB2 IRF3 DHDH CGB8 FCGRT LIN7B SIGLEC16 AP2A1 FLT3LG NOSIP LIG1 SNAR-C1 IZUMO1 SNAR-C4 PTOV1-AS1 GRWD1 SNAR-A3 GFY SNAR-B1 TSKS TBC1D17 SIGLEC11 MIR6799 BAX SPHK2 AKT1S1 FGF21 DKKL1 MIR4324 PTOV1-AS2 ZNF114 SNAR-D SNAR-A10 PRRG2 RCN3 EMP3 SCAF1 FLJ26850 SNAR-G2 CGB5 TULP2 PIH1D1 MIR6800 BCL2L12 TEAD2 ZNF473 BSPH1 LOC105447645 SNAR-G1 VRK3 SPACA4 CD37 SNAR-A9 ATF5 ELSPBP1 NTF4 KDELR1 RUVBL2 PTH2 SNORD35A RPS11 SLC6A16 PLA2G4C-AS1 ADM5 GRIN2D PTOV1 FAM83E CGB7 MAMSTR RRAS CPT1C CARD8 CCDC155 SNAR-A13 GYS1 TMEM143 C19orf68 SNORD34 NUP62 SNAR-A6 LOC105372430 FTL MIR6798 SNAR-A7 SNAR-A12 LMTK3 MIR4749 SNAR-A8 SNAR-B2 NTN5 SNAR-A5 SNAR-C2 HRC SNAR-C3 DBP SNAR-A14 FUZ SNRNP70 FUT1 SYNGR4 SNAR-A2 PPFIA3 CYTH2 SNAR-A1 MIR5088 SULT2B1 TRPM4 SNORD32A PRR12 RASIP1 SNAR-A11 LOC100287477 SNORD33 CABP5 SLC17A7 SNAR-A4 PNKP CGB1 BCAT2 SEC1P LOC101928295 NUCB1-AS1 CA11 MIR150 SNORD35B LOC101059948 KCNJ14 PPP1R15A PRMT1
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	MIR6798 LOC101059948 GYS1 BAX LHB RUVBL2 FTL
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	C19orf73 MIR6798 DHDH CGB1 CGB8 BAX LHB PPFIA3 LIN7B NUCB1-AS1 SNAR-G1 NUCB1 CGB7 LOC101059948 GYS1 KCNA7 CGB3 NTF4 RUVBL2 SNAR-G2 CGB5 CGB2 FTL SNRNP70
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	TULP2 DHDH GYS1 PLEKHA4 BAX PPP1R15A NUCB1-AS1 FTL NUCB1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	MIR6798 CGB1 CGB8 BAX LHB SNAR-G1 CGB7 LOC101059948 GYS1 KCNA7 CGB3 NTF4 RUVBL2 SNAR-G2 CGB5 CGB2 FTL SNRNP70

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