Assay Details
Target Gene Details
Entrez Gene ID: | 10856 |
Gene Name: | RuvB like AAA ATPase 2 |
Gene Aliases: |
CGI-46, ECP-51, ECP51, INO80J, REPTIN, RVB2, TAP54-beta, TIH2, TIP48, TIP49B |
Location: |
Chr.19:48993448-49015995 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RUVBL2 | NM_001321190.1 | 1 | 177 | NP_001308119.1 |
NM_001321191.1 | 1 | 177 | NP_001308120.1 | |
NM_006666.2 | 1 | 177 | NP_006657.1 | |
NR_135578.1 | 1 | 177 |
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 | CD37 DKKL1 DBP NUCB1 NOSIP CA11 MED25 TBC1D17 AKT1S1 TULP2 ZNF473 ATF5 CPT1C SNAR-G2 SNAR-A7 ZNF114 PTOV1-AS2 MIR4751 FGF21 LIN7B LOC101928295 SLC6A16 RPS11 MIR4324 FUZ LOC105447645 TEAD2 ADM5 HRC FLJ26850 IL4I1 PLEKHA4 RPL13A CCDC155 SYNGR4 PRRG2 SCAF1 BCAT2 MIR5088 SNAR-A6 SNAR-A3 TSKS DHDH CGB1 PTH2 SNORD34 SNAR-A4 PNKP PRMT1 CGB2 MIR4749 LOC101059948 PLA2G4C-AS1 CGB8 NUCB1-AS1 CGB7 SNORD35B CARD8 FUT1 GRWD1 LHB SNAR-A8 RASIP1 SNAR-A13 SNAR-A9 SNORD33 MIR6800 LMTK3 LOC100287477 SNAR-B2 IRF3 SNAR-C3 SNAR-A11 SNAR-C4 CGB3 RCN3 SNAR-C1 CABP5 FLT3LG CGB5 NTF4 TRPM4 LIG1 FCGRT AP2A1 TMEM143 PPP1R15A PTOV1-AS1 SNAR-A2 FUT2 SULT2B1 CARD8-AS1 BSPH1 MAMSTR MIR6799 PPFIA3 SNAR-G1 MIR150 SNAR-A10 BCL2L12 ALDH16A1 IZUMO1 MIR6798 RRAS PLA2G4C SNAR-A5 MIR4750 SNAR-A14 BAX C19orf68 SLC17A7 C19orf73 RUVBL2 FAM83E EMP3 SNAR-A12 SNAR-A1 PIH1D1 PTOV1 KDELR1 SNRNP70 ELSPBP1 SNAR-B1 SNAR-C5 GYS1 HSD17B14 LOC105372430 SEC1P CYTH2 PRR12 GFY RPL18 CCDC114 KCNJ14 SNAR-D SIGLEC11 SPACA4 NUP62 VRK3 SNORD32A FTL SNAR-C2 SNORD35A KCNA7 SPHK2 SIGLEC16 NTN5 GRIN2D |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | FTL BAX MIR6798 RUVBL2 LHB GYS1 LOC101059948 |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | SNRNP70 FTL DHDH NUCB1 MIR6798 CGB1 LHB GYS1 LIN7B CGB2 KCNA7 LOC101059948 BAX CGB3 C19orf73 RUVBL2 PPFIA3 CGB8 NUCB1-AS1 SNAR-G1 CGB7 SNAR-G2 CGB5 NTF4 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | SNRNP70 FTL MIR6798 CGB1 LHB GYS1 CGB2 KCNA7 LOC101059948 BAX CGB3 RUVBL2 CGB8 SNAR-G1 CGB7 SNAR-G2 CGB5 NTF4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |