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 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RUVBL2 | NM_001321190.1 | 14 | 1821 | NP_001308119.1 |
NM_001321191.1 | 14 | 1730 | NP_001308120.1 | |
NM_006666.2 | 14 | 1751 | NP_006657.1 | |
NR_135578.1 | 14 | 1740 | ||
XM_011526330.1 | 14 | 1664 | XP_011524632.1 | |
AB024301.1 | 14 | 1300 | BAA76708.1 | |
AF124607.1 | 14 | 1308 | AAF87087.1 | |
AF151804.1 | 14 | 1292 | AAD34041.1 | |
AF155138.1 | 14 | 1293 | AAD38073.1 | |
AK027762.1 | 14 | 1371 | ||
AK057498.1 | 14 | 2298 | ||
AK074542.1 | 14 | 1301 | BAC11048.1 | |
AL136743.1 | 13 | 1290 | CAB66677.1 | |
BC000428.2 | 14 | 1292 | AAH00428.1 | |
BC004531.2 | 14 | 1300 | AAH04531.1 | |
BC008355.1 | 14 | 1289 | AAH08355.1 | |
CR533507.1 | 13 | 1287 | CAG38538.1 | |
Y18417.1 | 14 | 1292 | CAB46270.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv22462 | Chr.19:49015591 - 49056682 on Build GRCh38 | Gain | CGB8 CGB7 CGB5 LOC101059948 SNAR-G2 CGB1 CGB3 SNAR-G1 RUVBL2 CGB2 LHB |
nsv833859 | Chr.19:48997009 - 49173266 on Build GRCh38 | Loss | MIR6798 CGB8 SNRNP70 LIN7B LOC101059948 CGB1 CGB3 SNAR-G1 PPFIA3 C19orf73 LHB NTF4 CGB7 HRC CGB5 SNAR-G2 RUVBL2 CGB2 TRPM4 KCNA7 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | SNAR-C1 CGB8 FAM83E CA11 MIR4750 SNORD33 ADM5 FLJ26850 MIR4749 TEAD2 CCDC155 SNAR-A4 PTOV1-AS2 LOC101928295 RPL13A BAX TBC1D17 FUT1 LMTK3 SCAF1 CARD8-AS1 SIGLEC11 SPHK2 VRK3 SNAR-G1 PPP1R15A PPFIA3 LOC100287477 SNAR-A9 SNORD35B PRRG2 C19orf73 GYS1 CPT1C CD37 RUVBL2 CGB2 TRPM4 SNAR-A6 RCN3 RASIP1 IRF3 SNAR-B1 CABP5 ATF5 SNAR-A5 FLT3LG NUCB1 IL4I1 SULT2B1 NTF4 PTOV1-AS1 MIR6800 SNAR-C5 SNAR-A11 CGB5 MAMSTR IZUMO1 PRR12 PLA2G4C BCAT2 SNAR-B2 SEC1P DBP CGB3 SPACA4 LOC105447645 MIR4324 TSKS BCL2L12 NUCB1-AS1 CCDC114 GRIN2D ZNF473 MIR6798 PRMT1 SNAR-A13 TMEM143 SLC6A16 NTN5 SNAR-A2 LIG1 SNAR-C4 PIH1D1 SNAR-C3 SNAR-A12 FCGRT MIR5088 SNAR-A10 SNAR-A14 LOC101059948 LOC105372430 GRWD1 SNAR-A3 SNORD35A PTOV1 MIR6799 SNAR-D FTL ALDH16A1 RPL18 KDELR1 NOSIP PLA2G4C-AS1 FUZ KCNA7 SNORD34 FGF21 SYNGR4 BSPH1 LIN7B ELSPBP1 SNORD32A MIR4751 PNKP AP2A1 SNAR-A1 EMP3 SNAR-G2 SNAR-A7 HSD17B14 CARD8 TULP2 RPS11 PLEKHA4 RRAS SNRNP70 AKT1S1 CYTH2 CGB1 C19orf68 KCNJ14 MIR150 SIGLEC16 LHB ZNF114 CGB7 HRC PTH2 DHDH NUP62 FUT2 SNAR-A8 SNAR-C2 MED25 DKKL1 SLC17A7 GFY |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | MIR6798 FTL LOC101059948 RUVBL2 LHB GYS1 BAX |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | MIR6798 CGB8 SNRNP70 LIN7B LOC101059948 CGB1 CGB3 NUCB1 SNAR-G1 PPFIA3 C19orf73 LHB GYS1 NTF4 FTL CGB7 NUCB1-AS1 CGB5 DHDH SNAR-G2 RUVBL2 CGB2 KCNA7 BAX |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | MIR6798 CGB8 SNRNP70 LOC101059948 CGB1 CGB3 SNAR-G1 LHB GYS1 NTF4 FTL CGB7 CGB5 SNAR-G2 RUVBL2 CGB2 KCNA7 BAX |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |