Hs01764235_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48987206 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 3 - Exon 3

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

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