Hs01664776_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48974637 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 11 - Exon 11

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

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