Hs01664776_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48974637 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 11 - Exon 11

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

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