Hs07134011_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:48995225 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 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
	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	DHDH PIH1D1 SNAR-A1 PRMT1 LOC101928295 PTOV1-AS1 GYS1 TULP2 SNORD34 SNAR-A5 TSKS SNAR-A13 SNAR-B2 PPP1R15A SNAR-A4 CGB3 FUT1 LMTK3 SNAR-C4 CYTH2 SNAR-A10 SYNGR4 LOC105372430 FLJ26850 ELSPBP1 KDELR1 SNORD35B SNORD35A SNAR-C1 FCGRT LOC100287477 SNAR-A14 SNAR-C2 RRAS SNAR-B1 LOC105447645 SIGLEC16 ATF5 ZNF114 CGB8 CABP5 FAM83E SNAR-D PLA2G4C-AS1 NUP62 BCAT2 SNAR-A2 VRK3 FTL NUCB1-AS1 NTF4 SEC1P BAX GRWD1 IL4I1 NUCB1 TMEM143 SNAR-C5 HRC SNAR-A6 LIN7B BCL2L12 PLEKHA4 DKKL1 NOSIP CD37 SNORD33 TRPM4 TEAD2 SNAR-A12 CARD8 FUZ SNRNP70 C19orf68 IRF3 FGF21 CARD8-AS1 CCDC155 SLC17A7 EMP3 PRR12 ZNF473 PRRG2 GRIN2D RASIP1 PPFIA3 MIR6798 AP2A1 SULT2B1 DBP MED25 FLT3LG NTN5 RUVBL2 MIR6800 SIGLEC11 SNAR-A9 CGB5 TBC1D17 LHB ADM5 SNAR-C3 KCNA7 SNAR-G2 HSD17B14 MIR4324 SCAF1 SNORD32A RPL13A MIR5088 FUT2 IZUMO1 BSPH1 C19orf73 SLC6A16 PTOV1 KCNJ14 ALDH16A1 CGB2 MIR4750 SNAR-A7 SPHK2 RPL18 AKT1S1 CCDC114 MIR4749 CA11 LOC101059948 RPS11 CGB1 RCN3 PLA2G4C PNKP GFY CGB7 PTH2 MIR4751 SNAR-G1 MIR150 MAMSTR SNAR-A8 PTOV1-AS2 SNAR-A11 SNAR-A3 LIG1 CPT1C SPACA4 MIR6799
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	FTL RUVBL2 BAX GYS1 MIR6798 LOC101059948 LHB
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	DHDH CGB1 CGB7 LIN7B GYS1 SNAR-G1 CGB8 C19orf73 PPFIA3 MIR6798 KCNA7 SNAR-G2 FTL CGB2 NUCB1-AS1 NTF4 RUVBL2 BAX SNRNP70 CGB3 CGB5 LOC101059948 NUCB1 LHB
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	CGB1 CGB7 GYS1 SNAR-G1 CGB8 MIR6798 KCNA7 SNAR-G2 FTL CGB2 NTF4 RUVBL2 BAX SNRNP70 CGB3 CGB5 LOC101059948 LHB

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