Hs01863945_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48985525 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GYS1	NM_001161587.1	4	808	NP_001155059.1
	NM_002103.4	5	1000	NP_002094.2
	NR_027763.1	4	818
	AK223579.1	5	956	BAD97299.1
	AK291672.1	5	956
	AK294349.1
	AK300369.1	5	788
	AK302738.1	4	774
	AK303712.1	4	774
	BC002617.2	5	939	AAH02617.1
	BC003182.1	4	765	AAH03182.1
	BC007688.2	5	926	AAH07688.1
	J04501.1	5	919	AAA88046.1
	U32573.1	5	901	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	TULP2 CGB2 LIG1 ZNF114 SNRNP70 SNAR-A3 LHB SNAR-A13 PIH1D1 SNAR-A10 NUCB1-AS1 HSD17B14 GRIN2D NTN5 HRC SNAR-C4 RPL18 SNAR-A5 SIGLEC16 SULT2B1 FLT3LG ATF5 TBC1D17 NOSIP CGB1 SEC1P FUT1 PLA2G4C SPACA4 BCAT2 SNORD33 CGB5 SNAR-A1 SNAR-A9 IRF3 C19orf73 SNAR-C5 SPHK2 FAM83E SNAR-A7 SNAR-B2 LOC101928295 LOC105447645 KCNA7 CA11 PRR12 MED25 NUP62 PTOV1 SNORD34 RRAS NUCB1 RPL13A CCDC155 PLA2G4C-AS1 SYNGR4 MIR6800 TSKS SNORD32A CGB3 CPT1C ELSPBP1 MIR4324 SNAR-A4 SNAR-C3 RPS11 SNAR-A14 BAX CD37 IZUMO1 PTOV1-AS2 NTF4 RCN3 ZNF473 IL4I1 SNAR-A2 PRMT1 KDELR1 TEAD2 GRWD1 CARD8-AS1 SNORD35A MIR6798 AP2A1 TRPM4 PLEKHA4 PPFIA3 KCNJ14 PNKP LIN7B FGF21 CCDC114 LMTK3 DKKL1 PTH2 LOC100287477 MIR4751 SNAR-B1 CARD8 MAMSTR RASIP1 FTL DHDH BSPH1 CGB8 SNAR-A8 MIR4749 MIR6799 RUVBL2 CGB7 FUT2 SNAR-A11 PTOV1-AS1 MIR4750 GYS1 EMP3 TMEM143 FLJ26850 SNAR-D ALDH16A1 BCL2L12 VRK3 AKT1S1 SNORD35B FCGRT DBP SNAR-A12 MIR5088 SLC6A16 SLC17A7 C19orf68 PPP1R15A SNAR-A6 GFY LOC105372430 CABP5 SNAR-C2 SNAR-G1 SNAR-C1 CYTH2 ADM5 LOC101059948 SCAF1 SIGLEC11 MIR150 SNAR-G2 FUZ PRRG2
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	FTL GYS1 RUVBL2 LOC101059948 MIR6798 LHB BAX
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	NTF4 LIN7B CGB2 CGB3 RUVBL2 SNRNP70 KCNA7 LHB CGB7 CGB1 NUCB1-AS1 FTL SNAR-G1 GYS1 CGB5 LOC101059948 MIR6798 NUCB1 SNAR-G2 BAX PPFIA3 C19orf73 DHDH CGB8
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	TULP2 NUCB1-AS1 FTL GYS1 NUCB1 BAX PLEKHA4 DHDH PPP1R15A
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	NTF4 CGB2 CGB3 RUVBL2 SNRNP70 KCNA7 LHB CGB7 CGB1 FTL SNAR-G1 GYS1 CGB5 LOC101059948 MIR6798 SNAR-G2 BAX CGB8

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