Hs02077576_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48977931 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: Overlaps Intron 10 - Exon 10

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

More Information

• Set Membership: Intragenic, 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