Hs01868926_cn

• Gene Symbol: GYS1
• Assay Reference Genome Location: Chr.19:48974342 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 12

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

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