Hs00684374_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48968968 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 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GYS1	NM_001161587.1	15	2583	NP_001155059.1
	NM_002103.4	16	2775	NP_002094.2
	NR_027763.1	15	2593
	AK291672.1	16	2731
	AK302738.1
	BC002617.2	16	2714	AAH02617.1
	BC003182.1	15	2540	AAH03182.1
	BC007688.2	16	2701	AAH07688.1
	J04501.1	16	2694	AAA88046.1
	U32573.1	16	2673	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	DBP PTH2 SNORD34 RCN3 PTOV1 SCAF1 CGB3 HSD17B14 SEC1P CABP5 SNAR-D SPACA4 SNAR-A3 MIR6798 SNAR-A13 SIGLEC11 TULP2 MIR4751 AP2A1 PRR12 SNAR-B2 PIH1D1 LOC101059948 FUT1 IZUMO1 PTOV1-AS1 MIR4749 SNAR-A11 CARD8 SNAR-A10 SNAR-C1 TRPM4 TSKS IL4I1 GFY KCNJ14 DKKL1 CGB7 CCDC114 SNAR-C4 SNORD35A FUZ CGB1 LIN7B SNAR-A7 TBC1D17 SNAR-A6 SNAR-C3 LHB SLC17A7 PNKP LOC100287477 SPHK2 FLT3LG MIR4324 CGB2 FGF21 LOC105372430 DHDH CCDC155 SNAR-A12 MIR150 MIR6799 SNORD32A EMP3 PTOV1-AS2 ZNF473 MIR4750 NUCB1-AS1 NUP62 SNAR-A2 SNAR-B1 GYS1 C19orf68 FTL NTF4 SYNGR4 PPP1R15A FLJ26850 BSPH1 FCGRT LOC105447645 MIR5088 VRK3 RASIP1 SNORD33 LOC101928295 PPFIA3 RPL18 RUVBL2 SNAR-C5 SNAR-A9 TMEM143 HRC C19orf73 SNAR-A8 SNAR-A14 SNAR-A5 FUT2 PRRG2 MAMSTR SNAR-A4 ALDH16A1 BCL2L12 CGB5 BAX KDELR1 SNAR-C2 ATF5 AKT1S1 IRF3 TEAD2 LMTK3 CPT1C PRMT1 ZNF114 CARD8-AS1 MIR6800 PLA2G4C-AS1 KCNA7 CYTH2 NUCB1 NTN5 SNAR-G1 CD37 RPL13A SNORD35B SNAR-A1 BCAT2 RPS11 ADM5 SULT2B1 SLC6A16 CA11 SNAR-G2 SIGLEC16 GRIN2D ELSPBP1 RRAS PLEKHA4 MED25 LIG1 NOSIP CGB8 FAM83E PLA2G4C GRWD1 SNRNP70
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	FTL MIR6798 LOC101059948 LHB BAX RUVBL2 GYS1
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB1 FTL NTF4 DHDH LIN7B LOC101059948 LHB C19orf73 KCNA7 CGB3 NUCB1 SNAR-G1 MIR6798 CGB2 CGB8 PPFIA3 CGB5 NUCB1-AS1 BAX RUVBL2 SNRNP70 CGB7 SNAR-G2 GYS1
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	FTL PPP1R15A DHDH TULP2 NUCB1-AS1 BAX PLEKHA4 GYS1 NUCB1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	CGB1 FTL NTF4 LOC101059948 LHB KCNA7 CGB3 SNAR-G1 MIR6798 CGB2 CGB8 CGB5 BAX RUVBL2 SNRNP70 CGB7 SNAR-G2 GYS1

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