Hs04485244_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48973416 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 12

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

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