Hs00803062_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:49011210 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: Overlaps Intron 11 - Exon 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	LHB CGB1 CGB8 CGB7 LIN7B TRPM4 CGB5 CGB3 CGB2 NTF4 LOC101059948 SNRNP70 C19orf73 KCNA7 RUVBL2 PPFIA3 MIR6798 SNAR-G2 SNAR-G1 HRC
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	NUP62 LHB FLT3LG SNAR-B2 CCDC155 PRR12 PTOV1-AS2 SNAR-A9 SPHK2 RPS11 SNAR-C4 RRAS AP2A1 SNAR-B1 KDELR1 KCNA7 SNAR-A2 ATF5 RPL18 SPACA4 SNAR-G1 GYS1 CPT1C PNKP SNORD34 NTN5 CGB8 TRPM4 SNORD32A CD37 MIR4324 EMP3 LMTK3 CYTH2 FTL TMEM143 SIGLEC16 CCDC114 DHDH PTOV1-AS1 ADM5 PRRG2 RCN3 CA11 CGB2 SNAR-A13 IRF3 TBC1D17 CABP5 HSD17B14 SNRNP70 BAX TSKS NUCB1 PPFIA3 CARD8 SNAR-C5 BSPH1 AKT1S1 FUT1 PTOV1 DBP CARD8-AS1 SNAR-A11 ELSPBP1 LIG1 CGB3 SNAR-A3 SNAR-C3 ZNF114 BCL2L12 SNAR-A10 SLC17A7 MIR4750 PTH2 LOC105372430 SULT2B1 PLA2G4C-AS1 SNAR-G2 RPL13A GRIN2D MIR6800 SNAR-A14 SIGLEC11 CGB1 CGB7 CGB5 PLEKHA4 MIR150 LOC100287477 SNORD35A SNAR-C2 SNORD35B SNAR-A12 FCGRT RUVBL2 MIR5088 IL4I1 FUT2 FAM83E PRMT1 SNAR-A8 ZNF473 IZUMO1 PLA2G4C MED25 LOC105447645 SNAR-A5 VRK3 DKKL1 SNAR-A6 SNAR-A4 TULP2 LOC101928295 LOC101059948 SNAR-A7 BCAT2 MIR6798 RASIP1 KCNJ14 C19orf68 LIN7B GRWD1 TEAD2 SCAF1 NOSIP ALDH16A1 SNAR-A1 MAMSTR NTF4 NUCB1-AS1 C19orf73 SEC1P SYNGR4 PIH1D1 SLC6A16 MIR4749 SNAR-D GFY FGF21 FLJ26850 MIR6799 SNAR-C1 PPP1R15A MIR4751 FUZ SNORD33 HRC
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	LOC101059948 FTL LHB BAX RUVBL2 MIR6798 GYS1
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	DHDH LHB CGB1 CGB8 CGB7 LIN7B CGB5 CGB3 CGB2 NTF4 LOC101059948 NUCB1-AS1 SNRNP70 FTL C19orf73 KCNA7 BAX NUCB1 RUVBL2 PPFIA3 MIR6798 SNAR-G2 SNAR-G1 GYS1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	LHB CGB1 CGB8 CGB7 CGB5 CGB3 CGB2 NTF4 LOC101059948 SNRNP70 FTL KCNA7 BAX RUVBL2 MIR6798 SNAR-G2 SNAR-G1 GYS1

More Information

• Set Membership: Intragenic, 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