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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RUVBL2 | NM_001321190.1 | 9 | 1239 | NP_001308119.1 |
NM_001321191.1 | 9 | 1148 | NP_001308120.1 | |
NM_006666.2 | 9 | 1169 | NP_006657.1 | |
NR_135578.1 | 9 | 1158 | ||
XM_011526330.1 | 9 | 1082 | XP_011524632.1 | |
AB024301.1 | 9 | 718 | BAA76708.1 | |
AF124607.1 | 9 | 726 | AAF87087.1 | |
AF151804.1 | 9 | 711 | AAD34041.1 | |
AF155138.1 | 9 | 711 | AAD38073.1 | |
AK027762.1 | 9 | 789 | ||
AK057498.1 | 9 | 1716 | ||
AK074542.1 | 9 | 719 | BAC11048.1 | |
AL136743.1 | 8 | 708 | CAB66677.1 | |
BC000428.2 | 9 | 710 | AAH00428.1 | |
BC004531.2 | 9 | 718 | AAH04531.1 | |
BC008355.1 | 9 | 707 | AAH08355.1 | |
CR533507.1 | 8 | 705 | CAG38538.1 | |
Y18417.1 | 9 | 710 | CAB46270.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833859 | Chr.19:48997009 - 49173266 on Build GRCh38 | Loss | CGB1 CGB8 PPFIA3 HRC MIR6798 LOC101059948 CGB2 CGB7 SNAR-G1 LHB CGB3 LIN7B RUVBL2 TRPM4 KCNA7 SNRNP70 NTF4 SNAR-G2 CGB5 C19orf73 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | LIG1 SNAR-A7 DBP NUCB1 GRWD1 CARD8 AP2A1 SNORD33 TULP2 LMTK3 LHB SNAR-C3 SNAR-B2 EMP3 SNAR-C2 FUZ RRAS TMEM143 SNAR-A13 TBC1D17 RCN3 ADM5 SNAR-A14 FCGRT SPACA4 KCNJ14 LOC105372430 PPFIA3 ZNF114 SNAR-A12 FLJ26850 ATF5 MIR6798 SEC1P PTOV1-AS2 RPL13A TSKS SNAR-A10 SNAR-B1 CARD8-AS1 SNAR-G2 MED25 DHDH SNAR-A5 FTL LOC100287477 NTN5 MIR4749 SNORD32A PIH1D1 GYS1 ELSPBP1 SYNGR4 CA11 VRK3 CCDC155 RASIP1 C19orf68 PLEKHA4 PLA2G4C SIGLEC16 PLA2G4C-AS1 FAM83E BCAT2 SNAR-A6 MIR6799 BAX SNAR-A8 TRPM4 MIR6800 PPP1R15A SNAR-A11 FGF21 CGB8 SPHK2 MIR5088 SIGLEC11 CGB7 KDELR1 MIR4324 PRRG2 LIN7B RUVBL2 CABP5 SCAF1 NUP62 LOC105447645 AKT1S1 CCDC114 SNORD35A SNAR-D CGB5 PRR12 RPL18 C19orf73 IZUMO1 SLC6A16 GRIN2D MIR4750 PRMT1 MAMSTR KCNA7 SNAR-C1 ALDH16A1 BCL2L12 MIR4751 BSPH1 FUT1 SNAR-C4 PTH2 MIR150 CD37 RPS11 CGB1 FLT3LG SULT2B1 HRC NUCB1-AS1 TEAD2 SNAR-A2 SNAR-C5 SNAR-A4 SNAR-A9 PTOV1 IRF3 CPT1C SNAR-A3 SNRNP70 SNORD35B NOSIP ZNF473 NTF4 SLC17A7 FUT2 PTOV1-AS1 SNAR-A1 LOC101059948 CGB2 SNORD34 SNAR-G1 HSD17B14 CGB3 GFY PNKP IL4I1 DKKL1 LOC101928295 CYTH2 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | FTL MIR6798 LOC101059948 LHB BAX RUVBL2 GYS1 |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | FTL CGB1 CGB8 PPFIA3 MIR6798 LOC101059948 NUCB1-AS1 CGB2 NUCB1 CGB7 SNAR-G1 LHB CGB3 BAX LIN7B RUVBL2 GYS1 KCNA7 SNRNP70 NTF4 SNAR-G2 CGB5 DHDH C19orf73 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | FTL CGB1 CGB8 MIR6798 LOC101059948 CGB2 CGB7 SNAR-G1 LHB CGB3 BAX RUVBL2 GYS1 KCNA7 SNRNP70 NTF4 SNAR-G2 CGB5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |