Hs04019213_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48982234 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 7 - Exon 7

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

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