Hs02364988_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48969083 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	2468	NP_001155059.1
	NM_002103.4	16	2660	NP_002094.2
	NR_027763.1	15	2478
	AK291672.1	16	2616
	AK302738.1	15	2434
	BC002617.2	16	2599	AAH02617.1
	BC003182.1	15	2425	AAH03182.1
	BC007688.2	16	2586	AAH07688.1
	J04501.1	16	2579	AAA88046.1
	U32573.1	16	2558	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	CPT1C PIH1D1 IL4I1 SNRNP70 CARD8-AS1 SNAR-C1 SNORD33 SEC1P SIGLEC11 FCGRT CGB1 TMEM143 C19orf68 KCNA7 SNAR-G1 PPFIA3 EMP3 SNAR-A5 TBC1D17 FUT2 PPP1R15A BAX MIR5088 BCAT2 MIR6798 FUT1 DBP CGB7 PLA2G4C-AS1 SNAR-A14 PNKP TULP2 ZNF114 SNAR-B1 CARD8 GRIN2D SLC17A7 LMTK3 ATF5 RUVBL2 AP2A1 SNAR-G2 SNAR-C4 MED25 SPHK2 SNAR-A11 SIGLEC16 GYS1 SNAR-A6 KCNJ14 FTL CGB3 HSD17B14 SNORD35A RPS11 DKKL1 SNAR-D SLC6A16 ZNF473 RPL18 NOSIP MIR4324 BCL2L12 RASIP1 NTN5 CYTH2 SNAR-A8 CGB2 LOC100287477 SNAR-C3 SNAR-A12 HRC CGB8 SNAR-A4 IRF3 SYNGR4 LOC101059948 IZUMO1 SNAR-A7 SNORD34 CABP5 TEAD2 SNAR-B2 SNAR-C5 LIN7B MIR4749 FLT3LG SULT2B1 VRK3 MIR4750 MAMSTR KDELR1 MIR150 CD37 FAM83E BSPH1 PTH2 SNAR-A13 LOC105372430 LOC101928295 PRRG2 LOC105447645 SPACA4 RPL13A MIR4751 CCDC155 PTOV1 PRMT1 PLEKHA4 C19orf73 RCN3 SNAR-A2 CGB5 PRR12 DHDH NUCB1 GFY NTF4 SNAR-A9 TSKS CA11 FUZ PTOV1-AS2 PTOV1-AS1 SNORD35B FLJ26850 SNORD32A FGF21 TRPM4 PLA2G4C SNAR-A10 NUP62 SNAR-C2 SNAR-A1 LIG1 CCDC114 GRWD1 SNAR-A3 NUCB1-AS1 ELSPBP1 MIR6799 ALDH16A1 SCAF1 RRAS LHB MIR6800 ADM5 AKT1S1
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	LOC101059948 BAX MIR6798 GYS1 LHB RUVBL2 FTL
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	SNRNP70 LOC101059948 CGB5 BAX MIR6798 DHDH GYS1 NUCB1 NTF4 CGB1 FTL CGB3 CGB7 LIN7B KCNA7 SNAR-G1 CGB2 NUCB1-AS1 PPFIA3 C19orf73 LHB CGB8 RUVBL2 SNAR-G2
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	SNRNP70 LOC101059948 CGB5 BAX MIR6798 GYS1 NTF4 CGB1 FTL CGB3 CGB7 KCNA7 SNAR-G1 CGB2 LHB CGB8 RUVBL2 SNAR-G2
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	TULP2 BAX NUCB1-AS1 DHDH GYS1 PLEKHA4 NUCB1 PPP1R15A FTL

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