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

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