Hs04025529_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48976219 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 Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GYS1	NM_001161587.1			NP_001155059.1
	NM_002103.4			NP_002094.2
	NR_027763.1
	AK223579.1			BAD97299.1
	AK291672.1
	AK294349.1
	AK300369.1
	AK302738.1
	AK303712.1
	BC002617.2			AAH02617.1
	BC003182.1			AAH03182.1
	BC007688.2			AAH07688.1
	J04501.1			AAA88046.1
	U32573.1			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	SPHK2 SNAR-A11 GYS1 SNAR-C3 SYNGR4 C19orf73 IRF3 SNRNP70 MIR6798 PLA2G4C-AS1 CGB3 FCGRT ZNF114 FUT2 NUCB1 LIG1 TBC1D17 SNORD32A LIN7B SNAR-A4 SNAR-B1 CARD8-AS1 SIGLEC11 SLC6A16 AP2A1 MIR4324 TMEM143 PTOV1 ADM5 FUZ RCN3 PRMT1 LOC101059948 RUVBL2 FTL VRK3 SNAR-G1 C19orf68 PRRG2 NTF4 KCNJ14 NTN5 CPT1C RPL18 MIR4749 BAX FUT1 SNAR-B2 PPP1R15A RRAS SNAR-C5 SNAR-A6 BCAT2 SEC1P SNAR-A10 TULP2 CGB2 MIR150 SNAR-A2 PTOV1-AS1 PNKP RPS11 LMTK3 SNORD35A ATF5 TEAD2 SNAR-A14 SPACA4 CABP5 MIR4750 FLJ26850 BCL2L12 HSD17B14 LOC105372430 IZUMO1 NOSIP HRC CYTH2 CD37 CGB5 BSPH1 ELSPBP1 MIR6800 CCDC155 CGB8 SNORD34 PLA2G4C KDELR1 MED25 IL4I1 FLT3LG MAMSTR LOC100287477 CCDC114 MIR6799 DBP SNAR-A13 LOC101928295 SNAR-A7 PRR12 PTOV1-AS2 SNAR-A9 RPL13A PPFIA3 SLC17A7 SNAR-G2 TSKS SNORD35B ALDH16A1 GRWD1 SNAR-A3 RASIP1 NUP62 SNAR-C1 PLEKHA4 SNAR-D PIH1D1 KCNA7 FAM83E CA11 SCAF1 LOC105447645 PTH2 MIR5088 GFY SNAR-A5 CGB7 GRIN2D SNORD33 ZNF473 SIGLEC16 SULT2B1 NUCB1-AS1 SNAR-A8 SNAR-A12 TRPM4 LHB SNAR-C4 SNAR-A1 AKT1S1 DHDH FGF21 SNAR-C2 CGB1 CARD8 DKKL1 MIR4751 EMP3
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	GYS1 LOC101059948 RUVBL2 FTL BAX MIR6798 LHB
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB7 LIN7B NTF4 GYS1 CGB2 NUCB1-AS1 BAX C19orf73 SNRNP70 MIR6798 LHB CGB3 CGB5 LOC101059948 DHDH RUVBL2 FTL KCNA7 SNAR-G1 NUCB1 CGB1 PPFIA3 SNAR-G2 CGB8
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	CGB7 NTF4 GYS1 CGB2 BAX SNRNP70 MIR6798 LHB CGB3 CGB5 LOC101059948 RUVBL2 FTL KCNA7 SNAR-G1 CGB1 SNAR-G2 CGB8
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	GYS1 DHDH TULP2 FTL PPP1R15A NUCB1 NUCB1-AS1 BAX PLEKHA4

More Information

• Set Membership: Intragenic, Intronic, Non-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