Hs00322483_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48970561 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 14 - Exon 14

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