Hs01354186_cn

• Gene Symbol: RUVBL2
• Assay Reference Genome Location: Chr.19:49011080 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 11 - Intron 11

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

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