Hs04483668_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48983500 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 Intron 5

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

More Information

• Set Membership: Intragenic, Intronic, Non-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