Hs00293308_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48981589 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 8 - Exon 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	LOC100287477 RPL18 RRAS SNAR-A5 HSD17B14 SNORD35A NOSIP CGB2 FCGRT PRR12 PTOV1-AS1 ZNF114 SLC17A7 PTOV1 PLA2G4C NUCB1-AS1 SNAR-C4 BCAT2 FGF21 FUZ TMEM143 SNORD34 CCDC155 FUT1 HRC CGB7 IZUMO1 SNAR-G1 PRMT1 RASIP1 SNAR-A2 SNAR-A1 IRF3 SNAR-A9 ZNF473 LHB KCNJ14 SNAR-G2 IL4I1 SPACA4 SNORD33 RPL13A TBC1D17 LMTK3 SCAF1 FTL DKKL1 SIGLEC11 MAMSTR CYTH2 SNRNP70 CGB3 MIR6799 FLT3LG NUP62 NTN5 SIGLEC16 LOC101059948 ADM5 MIR6800 MIR4749 SNAR-C3 KCNA7 SNAR-C2 SNORD32A PRRG2 SNAR-B2 BAX SULT2B1 RCN3 MIR4750 CD37 PIH1D1 LOC101928295 MIR150 SNAR-A6 SNAR-C5 ELSPBP1 PLEKHA4 EMP3 CCDC114 TRPM4 PPFIA3 NTF4 MIR4324 SNAR-A3 FAM83E SNAR-A10 SNAR-A7 RUVBL2 SNAR-A13 BSPH1 AP2A1 PTH2 MED25 MIR4751 SEC1P SNAR-A11 VRK3 PNKP BCL2L12 CGB8 SLC6A16 SNAR-A14 SNAR-C1 SNAR-B1 ATF5 PPP1R15A GFY CA11 LOC105372430 SNAR-A8 CGB5 TULP2 SNORD35B SNAR-D GRIN2D CABP5 KDELR1 SYNGR4 GRWD1 DBP SNAR-A12 ALDH16A1 CARD8 TEAD2 MIR5088 GYS1 LOC105447645 NUCB1 MIR6798 LIN7B TSKS C19orf68 CGB1 LIG1 C19orf73 PLA2G4C-AS1 CARD8-AS1 FLJ26850 FUT2 AKT1S1 SNAR-A4 CPT1C DHDH PTOV1-AS2 RPS11 SPHK2
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	GYS1 BAX LOC101059948 MIR6798 FTL LHB RUVBL2
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	GYS1 LOC101059948 PPFIA3 NUCB1 MIR6798 CGB5 NTF4 LIN7B KCNA7 FTL CGB1 CGB2 C19orf73 BAX CGB7 SNRNP70 SNAR-G1 CGB3 CGB8 LHB SNAR-G2 DHDH RUVBL2 NUCB1-AS1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	GYS1 LOC101059948 MIR6798 CGB5 NTF4 KCNA7 FTL CGB1 CGB2 BAX CGB7 SNRNP70 SNAR-G1 CGB3 CGB8 LHB SNAR-G2 RUVBL2
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	PLEKHA4 GYS1 BAX PPP1R15A NUCB1 TULP2 FTL DHDH NUCB1-AS1

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