Hs04031176_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48979199 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 8

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