Hs04030816_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:49006200 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	TRPM4 LHB CGB3 C19orf73 LOC101059948 MIR6798 SNRNP70 CGB7 LIN7B NTF4 SNAR-G2 KCNA7 CGB2 RUVBL2 HRC CGB1 CGB5 CGB8 PPFIA3 SNAR-G1
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	LHB CA11 SNAR-A8 NOSIP LOC101059948 SNORD35A SNAR-A5 ADM5 AKT1S1 NUP62 SNAR-B2 GRIN2D PPP1R15A FTL CGB7 KDELR1 SNORD34 FCGRT SNAR-C1 PIH1D1 TEAD2 SULT2B1 SNAR-A6 MIR5088 TBC1D17 SNAR-C4 SLC6A16 FGF21 SNAR-A9 SLC17A7 PRR12 MIR4749 NUCB1 GFY CGB5 RASIP1 IRF3 SNAR-A2 LMTK3 VRK3 LOC105372430 SIGLEC16 CD37 SNAR-A10 GYS1 SNAR-A7 HSD17B14 NTF4 SNAR-G2 CCDC155 SPACA4 EMP3 HRC CGB8 CPT1C SNAR-C2 TRPM4 FUT1 RPL13A TMEM143 SNAR-A4 RPL18 SPHK2 SNORD32A LIN7B RPS11 KCNA7 MIR6800 LIG1 SNAR-C5 FAM83E KCNJ14 FUT2 PTOV1 SIGLEC11 MED25 FLT3LG CGB3 SNORD35B PTOV1-AS2 SNAR-C3 PLEKHA4 PLA2G4C CARD8-AS1 LOC100287477 ATF5 CGB2 RUVBL2 SNAR-D SNAR-A12 FLJ26850 PLA2G4C-AS1 IZUMO1 MIR4750 SNAR-A1 C19orf73 MIR4324 FUZ BCL2L12 CYTH2 DKKL1 LOC101928295 ZNF114 PTH2 BAX SNAR-A3 CARD8 SEC1P SYNGR4 RCN3 PPFIA3 LOC105447645 SNAR-A14 SNAR-A11 SNAR-G1 DBP ELSPBP1 TSKS PNKP ALDH16A1 CCDC114 MIR150 MIR4751 ZNF473 PTOV1-AS1 GRWD1 SNRNP70 PRRG2 NTN5 AP2A1 CGB1 DHDH MAMSTR SCAF1 CABP5 IL4I1 SNAR-A13 TULP2 C19orf68 MIR6798 RRAS PRMT1 SNAR-B1 BCAT2 BSPH1 NUCB1-AS1 MIR6799 SNORD33
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	LHB GYS1 FTL LOC101059948 RUVBL2 BAX MIR6798
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	LHB CGB3 C19orf73 LOC101059948 MIR6798 SNRNP70 NUCB1 GYS1 FTL CGB7 LIN7B NTF4 SNAR-G2 KCNA7 CGB2 RUVBL2 NUCB1-AS1 BAX CGB1 CGB5 DHDH CGB8 PPFIA3 SNAR-G1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	LHB CGB3 LOC101059948 MIR6798 SNRNP70 GYS1 FTL CGB7 NTF4 SNAR-G2 KCNA7 CGB2 RUVBL2 BAX CGB1 CGB5 CGB8 SNAR-G1

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