Hs00241453_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48969542 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	2009	NP_001155059.1
	NM_002103.4	16	2201	NP_002094.2
	NR_027763.1	15	2019
	AK223579.1	16	2157	BAD97299.1
	AK291672.1	16	2157
	AK294349.1	11	1117
	AK300369.1	16	1989
	AK302738.1	15	1975
	BC002617.2	16	2140	AAH02617.1
	BC003182.1	15	1966	AAH03182.1
	BC007688.2	16	2127	AAH07688.1
	J04501.1	16	2120	AAA88046.1
	U32573.1	16	2099	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	MIR4751 IL4I1 EMP3 PIH1D1 FUT1 SCAF1 MIR4749 RUVBL2 SNORD33 FUZ SNAR-A10 SNAR-A13 PRMT1 CPT1C DBP PLA2G4C-AS1 MED25 PRRG2 CGB5 SNAR-B1 GYS1 PTH2 SNAR-A3 SNAR-C2 NUP62 SNORD32A CGB8 FLT3LG CGB1 TSKS CARD8 CYTH2 LHB SNAR-G1 GRIN2D SNAR-A9 MIR4750 SNAR-A11 FUT2 CCDC155 SNAR-C3 GRWD1 LOC101059948 PLA2G4C RCN3 PLEKHA4 LOC100287477 NTF4 ATF5 SNRNP70 FCGRT TRPM4 PNKP VRK3 C19orf73 CCDC114 CGB3 CGB2 NOSIP KCNA7 CARD8-AS1 AKT1S1 SNAR-B2 PPP1R15A SNAR-A14 RASIP1 CABP5 RPS11 PTOV1 BCAT2 SEC1P AP2A1 SYNGR4 ALDH16A1 SNORD35B SNORD35A ZNF473 LOC105372430 KCNJ14 LOC105447645 TBC1D17 LMTK3 DHDH LIG1 ADM5 CD37 HSD17B14 NUCB1-AS1 SNAR-C5 C19orf68 IRF3 NUCB1 DKKL1 LIN7B FGF21 RPL13A SNAR-C4 GFY MIR6798 SNAR-A8 HRC SNAR-A2 MIR6799 PTOV1-AS1 ZNF114 RRAS IZUMO1 SPACA4 TULP2 BCL2L12 FTL SNAR-D TMEM143 FAM83E RPL18 ELSPBP1 BAX MIR4324 NTN5 CGB7 SNAR-A6 SNAR-A12 TEAD2 MIR6800 PTOV1-AS2 MIR5088 SLC6A16 SNORD34 BSPH1 SIGLEC16 SNAR-A1 CA11 KDELR1 SNAR-A4 SNAR-A7 SPHK2 LOC101928295 PRR12 SIGLEC11 SNAR-C1 SULT2B1 MIR150 PPFIA3 FLJ26850 SLC17A7 SNAR-A5 MAMSTR SNAR-G2
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	FTL LHB GYS1 BAX LOC101059948 RUVBL2 MIR6798
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	FTL LIN7B CGB5 GYS1 BAX C19orf73 LOC101059948 CGB7 RUVBL2 MIR6798 CGB8 CGB1 CGB3 CGB2 NTF4 DHDH LHB SNAR-G1 KCNA7 PPFIA3 SNRNP70 NUCB1-AS1 SNAR-G2 NUCB1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	FTL CGB5 GYS1 BAX LOC101059948 CGB7 RUVBL2 MIR6798 CGB8 CGB1 CGB3 CGB2 NTF4 LHB SNAR-G1 KCNA7 SNRNP70 SNAR-G2
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	FTL DHDH GYS1 BAX NUCB1-AS1 PPP1R15A PLEKHA4 NUCB1 TULP2

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