Hs04021781_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48974013 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	LHB LOC105447645 CABP5 IZUMO1 SNAR-A11 GRIN2D SEC1P KCNJ14 PTOV1-AS1 SNAR-A5 CPT1C CGB3 LOC101059948 NTN5 CGB1 TRPM4 MIR6798 CGB8 PRRG2 MIR6800 CGB5 FLT3LG AP2A1 SNAR-C3 C19orf73 FCGRT PLA2G4C-AS1 SNAR-G1 PTOV1-AS2 SNAR-A1 SNAR-A2 TBC1D17 SPHK2 SNAR-A13 KDELR1 MIR4749 LOC105372430 GFY FUT2 CD37 SNAR-C4 NTF4 FTL BCL2L12 SNAR-B2 ALDH16A1 MIR5088 RPS11 MIR4750 ADM5 SNORD35B SIGLEC11 TSKS SNAR-B1 CARD8-AS1 RPL18 RUVBL2 PIH1D1 CGB7 SNAR-A14 SNORD33 SULT2B1 DBP LOC101928295 FAM83E TULP2 MIR150 RRAS SNORD32A PRMT1 SNAR-C1 AKT1S1 CGB2 FUZ SPACA4 SNAR-A9 SNAR-A12 LMTK3 PPP1R15A SNAR-C2 CCDC114 RCN3 NUCB1 ZNF114 MAMSTR FUT1 SNAR-A8 TMEM143 SNAR-D NUP62 CA11 SNAR-A4 SNRNP70 PTOV1 CYTH2 PLEKHA4 NOSIP SYNGR4 IRF3 MIR4324 FLJ26850 KCNA7 SLC17A7 EMP3 ATF5 DHDH BAX FGF21 BSPH1 PTH2 SCAF1 SNAR-A3 DKKL1 SNAR-G2 ZNF473 SNAR-A6 GYS1 SNAR-A7 PLA2G4C PPFIA3 SLC6A16 MED25 ELSPBP1 LIG1 RASIP1 SNORD34 GRWD1 IL4I1 HSD17B14 SNORD35A SIGLEC16 C19orf68 CCDC155 LIN7B TEAD2 SNAR-C5 PNKP HRC VRK3 LOC100287477 CARD8 MIR6799 MIR4751 SNAR-A10 PRR12 RPL13A NUCB1-AS1 BCAT2
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	LHB RUVBL2 GYS1 LOC101059948 BAX MIR6798 FTL
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	LHB RUVBL2 CGB7 CGB5 NUCB1 DHDH C19orf73 NTF4 BAX FTL CGB3 SNAR-G1 SNAR-G2 GYS1 SNRNP70 PPFIA3 LOC101059948 NUCB1-AS1 LIN7B CGB1 MIR6798 CGB2 CGB8 KCNA7
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	LHB RUVBL2 CGB7 CGB5 NTF4 BAX FTL CGB3 SNAR-G1 SNAR-G2 GYS1 SNRNP70 LOC101059948 CGB1 MIR6798 CGB2 CGB8 KCNA7
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	TULP2 PPP1R15A GYS1 NUCB1 NUCB1-AS1 PLEKHA4 DHDH 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