Hs07157963_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:48993624 on build GRCh38
• Cytoband: 19q13.33

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

Gene Ontology Categories:

Process(es)

box C/D snoRNP assembly
DNA repair
DNA recombination
chromatin remodeling
transcription, DNA-templated
protein folding
DNA duplex unwinding
cellular response to UV
positive regulation of histone acetylation
regulation of growth
histone H4 acetylation
histone H2A acetylation
positive regulation of transcription from RNA polymerase II promoter
establishment of protein localization to chromatin
cellular response to estradiol stimulus
transcriptional activation by promoter-enhancer looping
negative regulation of estrogen receptor binding
positive regulation of telomerase RNA localization to Cajal body

Function(s)

RNA polymerase II core promoter sequence-specific DNA binding
RNA polymerase II distal enhancer sequence-specific DNA binding
TFIID-class transcription factor binding
DNA helicase activity
ATP-dependent DNA helicase activity
protein binding
ATP binding
ATPase activity
chromatin DNA binding
identical protein binding
protein homodimerization activity
ATP-dependent 5'-3' DNA helicase activity
ADP binding
unfolded protein binding
ATPase binding