Hs04022861_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:49005379 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 Intron 5

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
	AK301344.1
	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	NTF4 CGB8 TRPM4 CGB1 RUVBL2 LHB SNRNP70 PPFIA3 HRC CGB7 LOC101059948 KCNA7 SNAR-G1 CGB2 MIR6798 SNAR-G2 CGB3 LIN7B CGB5 C19orf73
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	CGB8 TRPM4 EMP3 RUVBL2 TEAD2 AKT1S1 CARD8-AS1 SCAF1 MED25 ELSPBP1 C19orf68 SNAR-A8 SIGLEC16 SNAR-A2 PTH2 SNAR-G2 PTOV1-AS2 BCAT2 TBC1D17 MIR5088 LMTK3 VRK3 LHB LOC105372430 PTOV1-AS1 ADM5 PPP1R15A SNORD32A FTL NOSIP GRWD1 FAM83E HSD17B14 SNAR-A13 SNAR-A6 CGB3 RRAS DKKL1 SNORD35B RPS11 RPL18 CCDC155 PLEKHA4 FUT1 SNAR-A11 SIGLEC11 ZNF114 SNAR-A14 RASIP1 SNAR-G1 CCDC114 PLA2G4C SNAR-A9 ALDH16A1 AP2A1 KDELR1 SNAR-B1 PPFIA3 SEC1P MIR4750 PRRG2 FCGRT NUP62 LOC105447645 PRMT1 CGB2 CD37 MIR6798 TMEM143 MIR4749 CGB1 TULP2 SNAR-A7 MIR150 SNORD35A RCN3 SNAR-C5 IRF3 CABP5 SNAR-D KCNA7 FLJ26850 LIG1 PTOV1 SNAR-A3 SLC6A16 CA11 CGB5 PNKP SNAR-C4 FUZ CPT1C SNORD34 PLA2G4C-AS1 SYNGR4 DBP DHDH BAX BCL2L12 ZNF473 IZUMO1 KCNJ14 LOC101059948 SNAR-A10 SULT2B1 LOC101928295 NUCB1 RPL13A SNAR-A12 MIR4324 NUCB1-AS1 GFY IL4I1 SPACA4 PIH1D1 SPHK2 MIR6799 SNAR-C3 PRR12 CARD8 CGB7 LOC100287477 SNAR-A1 SNAR-A5 MIR6800 SNAR-A4 ATF5 SNORD33 NTN5 BSPH1 C19orf73 SNAR-C1 SLC17A7 FGF21 NTF4 TSKS MIR4751 SNRNP70 GYS1 HRC CYTH2 FLT3LG GRIN2D SNAR-C2 FUT2 MAMSTR SNAR-B2 LIN7B
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	LOC101059948 RUVBL2 LHB MIR6798 BAX GYS1 FTL
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	NTF4 CGB8 CGB1 RUVBL2 LHB DHDH BAX SNRNP70 GYS1 PPFIA3 CGB7 FTL LOC101059948 NUCB1 KCNA7 SNAR-G1 CGB2 MIR6798 SNAR-G2 CGB3 NUCB1-AS1 LIN7B CGB5 C19orf73
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	NTF4 CGB8 CGB1 RUVBL2 LHB BAX SNRNP70 GYS1 CGB7 FTL LOC101059948 KCNA7 SNAR-G1 CGB2 MIR6798 SNAR-G2 CGB3 CGB5

More Information

• Set Membership: Intragenic, Intronic, Non-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