Hs00562733_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48968721 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	2830	NP_001155059.1
	NM_002103.4	16	3022	NP_002094.2
	NR_027763.1	15	2840
	AK291672.1
	BC002617.2	16	2961	AAH02617.1
	BC003182.1	15	2787	AAH03182.1
	BC007688.2	16	2948	AAH07688.1
	J04501.1	16	2941	AAA88046.1
	U32573.1	16	2920	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	AKT1S1 PPFIA3 GRIN2D IL4I1 MIR5088 GRWD1 ALDH16A1 SNAR-B1 SNAR-A1 PRRG2 DKKL1 C19orf68 CCDC155 PTOV1 LOC100287477 ATF5 SNORD34 LIN7B TBC1D17 SNAR-A6 PIH1D1 SPACA4 ZNF473 SNAR-A7 BCL2L12 MIR4751 PNKP EMP3 SIGLEC16 FUT1 AP2A1 FTL FCGRT TSKS SNAR-C5 CPT1C NTF4 RPL13A CGB2 PRR12 SULT2B1 PLEKHA4 CCDC114 SNAR-G1 KCNJ14 SNAR-A4 CGB7 MED25 SNRNP70 SNAR-A11 CGB1 SNAR-C3 SIGLEC11 MIR4749 FGF21 SNAR-A2 MIR4324 HRC TRPM4 LHB IRF3 TEAD2 BAX SNAR-A5 CYTH2 ELSPBP1 SLC17A7 MIR6799 SNAR-A13 SNAR-D HSD17B14 SNAR-A12 NOSIP SNORD33 MIR6800 SNAR-A9 TMEM143 SNORD35A PRMT1 SCAF1 SNORD35B DBP SNAR-A3 MIR4750 CA11 LOC101059948 PTOV1-AS2 LIG1 SYNGR4 SPHK2 SNAR-A8 TULP2 FAM83E MIR150 PLA2G4C FUT2 CGB3 C19orf73 PLA2G4C-AS1 VRK3 SNAR-A10 LOC105372430 BSPH1 NUCB1-AS1 CD37 PTH2 CGB5 CARD8-AS1 IZUMO1 RUVBL2 SEC1P SLC6A16 CGB8 SNAR-B2 PPP1R15A NTN5 BCAT2 FLT3LG DHDH RRAS ZNF114 LOC105447645 RASIP1 CARD8 NUCB1 SNAR-G2 KDELR1 ADM5 MAMSTR SNAR-C4 KCNA7 RPS11 LOC101928295 GYS1 MIR6798 SNORD32A RCN3 RPL18 CABP5 FUZ SNAR-C2 GFY LMTK3 SNAR-C1 PTOV1-AS1 FLJ26850 SNAR-A14 NUP62
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	FTL GYS1 MIR6798 RUVBL2 BAX LOC101059948 LHB
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	SNAR-G1 PPFIA3 CGB3 C19orf73 GYS1 MIR6798 DHDH CGB7 SNRNP70 CGB1 NUCB1-AS1 BAX LOC101059948 CGB5 FTL NUCB1 SNAR-G2 RUVBL2 LIN7B NTF4 KCNA7 CGB8 CGB2 LHB
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	FTL NUCB1 GYS1 DHDH TULP2 NUCB1-AS1 BAX PPP1R15A PLEKHA4
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	SNAR-G1 CGB3 GYS1 MIR6798 CGB7 SNRNP70 CGB1 BAX LOC101059948 CGB5 FTL SNAR-G2 RUVBL2 NTF4 KCNA7 CGB8 CGB2 LHB

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