Hs07159991_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:48994332 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 2 - Intron 2

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	1	424
	AK074542.1			BAC11048.1
	AK301344.1
	BC000428.2			AAH00428.1
	BC004531.2			AAH04531.1
	BC008355.1			AAH08355.1
	Y18417.1			CAB46270.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

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