Hs01863945_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48985525 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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GYS1	NM_001161587.1	4	808	NP_001155059.1
	NM_002103.4	5	1000	NP_002094.2
	NR_027763.1	4	818
	AK223579.1	5	956	BAD97299.1
	AK291672.1	5	956
	AK294349.1
	AK300369.1	5	788
	AK302738.1	4	774
	AK303712.1	4	774
	BC002617.2	5	939	AAH02617.1
	BC003182.1	4	765	AAH03182.1
	BC007688.2	5	926	AAH07688.1
	J04501.1	5	919	AAA88046.1
	U32573.1	5	901	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	PLA2G4C-AS1 PRR12 TMEM143 ZNF114 BCL2L12 FCGRT SNAR-B1 RCN3 PRRG2 SPHK2 RPL18 NTN5 ATF5 CD37 SNAR-G2 SNAR-A3 SIGLEC11 EMP3 SEC1P CCDC155 TRPM4 FUT1 RASIP1 CGB2 LHB PTOV1 MIR6798 TBC1D17 MIR4324 DHDH AP2A1 CGB5 LOC105372430 C19orf68 RPS11 MIR6800 IL4I1 SNAR-A7 CGB3 PIH1D1 BCAT2 NUCB1-AS1 SNAR-D SNAR-A13 PPP1R15A SNAR-A6 MIR5088 HRC CARD8 SNAR-C1 TEAD2 SNAR-A10 CCDC114 HSD17B14 DBP NUP62 FLJ26850 SPACA4 CARD8-AS1 LIG1 IRF3 SNAR-A1 TSKS SNORD32A SCAF1 SNAR-C4 SLC6A16 LIN7B LOC100287477 PTOV1-AS2 CYTH2 MIR6799 MIR150 RUVBL2 BSPH1 CABP5 ALDH16A1 SIGLEC16 GYS1 PNKP CGB1 PLEKHA4 VRK3 SNAR-A9 MIR4750 FAM83E MIR4749 NUCB1 KCNJ14 SNORD33 SNORD34 SNAR-A2 GRIN2D SNAR-A14 RPL13A SNAR-A4 SNAR-B2 FLT3LG SNORD35A PTOV1-AS1 PTH2 C19orf73 SNAR-G1 NTF4 CGB7 TULP2 FUZ IZUMO1 CPT1C DKKL1 LOC101928295 PPFIA3 SNAR-A8 SULT2B1 SNAR-C3 FGF21 GRWD1 ELSPBP1 SNAR-C5 KDELR1 FTL ADM5 CA11 GFY SNRNP70 PRMT1 SNAR-A5 PLA2G4C SNAR-A11 SNAR-C2 MAMSTR LMTK3 NOSIP RRAS BAX LOC101059948 AKT1S1 ZNF473 CGB8 SLC17A7 MIR4751 FUT2 SNORD35B KCNA7 MED25 SYNGR4 SNAR-A12 LOC105447645
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	GYS1 LHB BAX MIR6798 LOC101059948 RUVBL2 FTL
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	NUCB1-AS1 CGB2 NUCB1 LHB BAX MIR6798 LOC101059948 RUVBL2 FTL CGB8 DHDH CGB5 GYS1 SNRNP70 KCNA7 C19orf73 CGB3 SNAR-G1 CGB1 NTF4 SNAR-G2 CGB7 LIN7B PPFIA3
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	CGB2 LHB BAX MIR6798 LOC101059948 RUVBL2 FTL CGB8 CGB5 GYS1 SNRNP70 KCNA7 CGB3 SNAR-G1 CGB1 NTF4 SNAR-G2 CGB7
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	NUCB1-AS1 PPP1R15A GYS1 NUCB1 BAX PLEKHA4 FTL TULP2 DHDH

More Information

• Set Membership: Intragenic, 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