Assay Details
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: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GYS1 | NM_001161587.1 | 15 | 2744 | NP_001155059.1 |
NM_002103.4 | 16 | 2936 | NP_002094.2 | |
NR_027763.1 | 15 | 2754 | ||
AK291672.1 | 16 | 2892 | ||
BC002617.2 | 16 | 2875 | AAH02617.1 | |
BC003182.1 | 15 | 2701 | AAH03182.1 | |
BC007688.2 | 16 | 2862 | AAH07688.1 | |
J04501.1 | 16 | 2855 | AAA88046.1 | |
U32573.1 | 16 | 2834 | 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 | FLT3LG FCGRT SNAR-C3 CABP5 CGB8 RPS11 SNAR-C4 CD37 SNAR-D LIN7B SNRNP70 MIR4751 MIR150 ADM5 DKKL1 SNAR-C2 RPL13A LOC105372430 PTOV1-AS1 SEC1P NUP62 KDELR1 PTH2 RPL18 LIG1 BSPH1 PLA2G4C RUVBL2 SNAR-A12 IZUMO1 IL4I1 KCNJ14 SLC6A16 ATF5 LOC100287477 LOC101059948 SNAR-C5 SNAR-A10 SNAR-G1 PTOV1 HSD17B14 TEAD2 C19orf68 SNAR-A13 FUZ FAM83E EMP3 LMTK3 MAMSTR NUCB1-AS1 SNAR-A3 SYNGR4 DHDH MIR5088 BCAT2 CGB2 RCN3 SLC17A7 PNKP ZNF114 RRAS SNAR-A4 FTL NTN5 SIGLEC16 MIR4750 VRK3 FUT2 BAX SULT2B1 GRIN2D CARD8 LOC105447645 SNAR-A1 KCNA7 SNAR-A8 CGB7 PTOV1-AS2 RASIP1 TSKS AKT1S1 CGB5 SNAR-B1 FUT1 SNAR-A7 PPP1R15A CPT1C SNAR-A9 TULP2 SCAF1 SIGLEC11 MIR4324 SNAR-A5 SNAR-A11 GYS1 SNAR-A6 SNORD33 CYTH2 SNORD32A TRPM4 SPACA4 CGB1 MIR6799 MED25 PLEKHA4 ELSPBP1 NOSIP DBP AP2A1 FLJ26850 TBC1D17 SNORD35A CGB3 MIR6800 IRF3 TMEM143 PRRG2 SNORD34 CCDC155 SNAR-A2 PPFIA3 BCL2L12 SNAR-C1 GFY NTF4 CCDC114 C19orf73 LOC101928295 MIR6798 SPHK2 SNAR-G2 PIH1D1 GRWD1 CA11 ZNF473 NUCB1 PRMT1 HRC LHB ALDH16A1 CARD8-AS1 SNAR-A14 MIR4749 PRR12 PLA2G4C-AS1 FGF21 SNORD35B SNAR-B2 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | MIR6798 LOC101059948 BAX LHB GYS1 RUVBL2 FTL |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | MIR6798 BAX SNAR-G2 NUCB1-AS1 RUVBL2 CGB8 PPFIA3 KCNA7 DHDH CGB7 LIN7B NUCB1 CGB2 SNRNP70 LOC101059948 CGB3 SNAR-G1 LHB GYS1 NTF4 C19orf73 FTL CGB5 CGB1 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | MIR6798 BAX SNAR-G2 RUVBL2 CGB8 KCNA7 CGB7 CGB2 SNRNP70 LOC101059948 CGB3 SNAR-G1 LHB GYS1 NTF4 FTL CGB5 CGB1 |
nsv833856 | Chr.19:48847866 - 48986483 on Build GRCh38 | Loss | BAX PPP1R15A GYS1 NUCB1-AS1 FTL TULP2 DHDH NUCB1 PLEKHA4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |