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

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