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

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