Hs01090059_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:49007395 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 Exon 7 - Intron 7

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