Hs04025529_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48976219 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 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	MAMSTR DKKL1 CA11 PPP1R15A RCN3 BCL2L12 CCDC114 DHDH SIGLEC16 SNAR-A13 SNAR-C2 IRF3 SULT2B1 RPL13A ZNF473 PTH2 SIGLEC11 SNORD32A LOC100287477 CYTH2 SNAR-A5 MIR150 BSPH1 PTOV1-AS2 PTOV1 SLC17A7 FTL ALDH16A1 ELSPBP1 SNAR-D LOC101928295 NOSIP GFY NTF4 TULP2 CGB2 LHB SPHK2 SNAR-A4 MIR6798 PNKP TSKS RPS11 FCGRT SNORD35A SNAR-A8 LIN7B NUP62 TBC1D17 SNAR-A2 VRK3 C19orf68 PIH1D1 TEAD2 SNORD35B BCAT2 FLJ26850 AKT1S1 FUT2 MIR6799 MED25 FGF21 ZNF114 SYNGR4 RRAS SNORD34 CGB1 KCNA7 SNAR-A12 CARD8 CGB8 MIR4751 EMP3 FUT1 MIR6800 CGB3 FLT3LG SEC1P TRPM4 CD37 FUZ IL4I1 HRC SNRNP70 CCDC155 NUCB1-AS1 LOC105372430 KCNJ14 SNAR-G1 GYS1 SNAR-A10 FAM83E SNORD33 CARD8-AS1 SNAR-A11 MIR4750 SNAR-C5 SNAR-A9 IZUMO1 PLA2G4C SNAR-A14 PLA2G4C-AS1 CGB5 MIR4324 CABP5 RUVBL2 TMEM143 ATF5 SNAR-C1 LOC101059948 MIR4749 DBP SCAF1 PRRG2 PLEKHA4 C19orf73 SNAR-A3 NUCB1 SNAR-B2 RPL18 PTOV1-AS1 SLC6A16 HSD17B14 CPT1C ADM5 GRWD1 GRIN2D SNAR-B1 BAX CGB7 KDELR1 LMTK3 AP2A1 MIR5088 LIG1 SNAR-G2 NTN5 SNAR-A7 RASIP1 PPFIA3 PRMT1 SNAR-A6 SPACA4 LOC105447645 SNAR-C4 SNAR-C3 SNAR-A1 PRR12
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	RUVBL2 BAX FTL GYS1 LOC101059948 LHB MIR6798
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	RUVBL2 BAX CGB7 SNAR-G1 LIN7B GYS1 CGB1 KCNA7 NTF4 CGB2 SNAR-G2 LOC101059948 DHDH LHB CGB8 MIR6798 PPFIA3 C19orf73 CGB3 FTL NUCB1 CGB5 SNRNP70 NUCB1-AS1
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	BAX FTL GYS1 NUCB1 PPP1R15A TULP2 DHDH PLEKHA4 NUCB1-AS1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	RUVBL2 BAX CGB7 SNAR-G1 GYS1 CGB1 KCNA7 NTF4 CGB2 SNAR-G2 LOC101059948 LHB CGB8 MIR6798 CGB3 FTL CGB5 SNRNP70

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