Hs01605600_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48970986 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: Overlaps Intron 12 - Exon 13

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

More Information

• Set Membership: Intragenic, 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