Hs01543214_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:48999340 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 2 - Intron 3

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

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