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 Intron 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RUVBL2 | NM_001321190.1 | NP_001308119.1 | ||
NM_001321191.1 | NP_001308120.1 | |||
NM_006666.2 | NP_006657.1 | |||
NR_135578.1 | ||||
XM_011526330.1 | XP_011524632.1 | |||
AB024301.1 | BAA76708.1 | |||
AF124607.1 | AAF87087.1 | |||
AF151804.1 | AAD34041.1 | |||
AF155138.1 | AAD38073.1 | |||
AK027762.1 | ||||
AK057498.1 | ||||
AK074542.1 | BAC11048.1 | |||
AL136743.1 | CAB66677.1 | |||
BC000428.2 | AAH00428.1 | |||
BC004531.2 | AAH04531.1 | |||
BC008355.1 | AAH08355.1 | |||
CR533507.1 | CAG38538.1 | |||
Y18417.1 | 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 | CGB3 CGB8 LIN7B NTF4 C19orf73 RUVBL2 SNAR-G2 CGB1 LHB CGB7 SNAR-G1 CGB5 PPFIA3 MIR6798 KCNA7 SNRNP70 CGB2 HRC TRPM4 LOC101059948 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | FAM83E VRK3 SNAR-G2 SNAR-A7 KDELR1 HSD17B14 SNAR-A13 LOC105447645 LHB SNAR-A1 PRR12 CCDC114 PPFIA3 MIR6798 CABP5 MIR4751 CD37 BAX GRWD1 DBP ZNF114 AP2A1 NUCB1-AS1 DKKL1 GYS1 IZUMO1 PTOV1-AS2 SLC6A16 CPT1C TEAD2 MAMSTR LOC101059948 MIR4749 SNAR-A5 TULP2 CGB8 NTF4 SNAR-C5 SCAF1 C19orf73 IRF3 DHDH SNAR-C1 SNAR-A14 CGB1 SNORD34 CGB5 SPHK2 CA11 NTN5 ELSPBP1 KCNA7 SNORD32A FGF21 RPS11 ALDH16A1 TRPM4 RASIP1 LOC105372430 CGB3 LIN7B MIR5088 RPL18 RRAS SNAR-C3 SNAR-A2 SNAR-A9 SNORD35A SNRNP70 CGB2 EMP3 KCNJ14 TMEM143 BCL2L12 BCAT2 SNAR-B1 SNAR-C4 GRIN2D SEC1P PNKP PTOV1-AS1 FUZ GFY SPACA4 NOSIP CARD8-AS1 SNORD33 ZNF473 BSPH1 SNAR-A10 MIR4324 RPL13A AKT1S1 IL4I1 FLT3LG MIR4750 SLC17A7 SNAR-A4 CARD8 MED25 LIG1 MIR6800 PRMT1 SNAR-A11 FUT1 RCN3 SNORD35B CYTH2 SNAR-A6 SIGLEC11 CGB7 ADM5 SNAR-G1 LOC101928295 PLEKHA4 C19orf68 SULT2B1 NUCB1 PIH1D1 MIR150 LMTK3 PTH2 PPP1R15A SNAR-A8 FLJ26850 RUVBL2 SNAR-C2 NUP62 SIGLEC16 MIR6799 SNAR-B2 PTOV1 ATF5 FTL SNAR-A12 SNAR-D SYNGR4 LOC100287477 CCDC155 PLA2G4C FUT2 PRRG2 TBC1D17 TSKS HRC FCGRT PLA2G4C-AS1 SNAR-A3 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | RUVBL2 MIR6798 BAX LHB FTL LOC101059948 GYS1 |
esv2718697 | Chr.19:49011365 - 49012395 on Build GRCh38 | Deletion | RUVBL2 |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | CGB3 CGB8 LIN7B NTF4 C19orf73 RUVBL2 SNAR-G2 DHDH BAX CGB1 LHB CGB7 SNAR-G1 FTL CGB5 NUCB1-AS1 NUCB1 GYS1 PPFIA3 MIR6798 KCNA7 SNRNP70 CGB2 LOC101059948 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | CGB3 CGB8 NTF4 RUVBL2 SNAR-G2 BAX CGB1 LHB CGB7 SNAR-G1 FTL CGB5 GYS1 MIR6798 KCNA7 SNRNP70 CGB2 LOC101059948 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |