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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for RUVBL2

check button Gene summary
Gene informationGene symbol

RUVBL2

Gene ID

10856

Gene nameRuvB like AAA ATPase 2
SynonymsCGI-46|ECP-51|ECP51|INO80J|REPTIN|RVB2|TAP54-beta|TIH2|TIP48|TIP49B
Cytomap

19q13.33

Type of geneprotein-coding
DescriptionruvB-like 248 kDa TATA box-binding protein-interacting protein48 kDa TBP-interacting protein51 kDa erythrocyte cytosolic proteinINO80 complex subunit JRuvB (E coli homolog)-like 2TIP60-associated protein 54-betaerythrocyte cytosolic protein, 51-KD
Modification date20180523
UniProtAcc

Q9Y230

ContextPubMed: RUVBL2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
RUVBL2

GO:0043967

histone H4 acetylation

14966270

RUVBL2

GO:0043968

histone H2A acetylation

14966270

RUVBL2

GO:0090090

negative regulation of canonical Wnt signaling pathway

11080158


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Exon skipping events across known transcript of Ensembl for RUVBL2 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for RUVBL2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for RUVBL2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3090381949496872:49497159:49502575:49502630:49506535:4950659149502575:49502630ENSG00000183207.8ENST00000601968.1
exon_skip_3090401949496872:49497159:49506535:49506591:49507533:4950763949506535:49506591ENSG00000183207.8ENST00000596837.1
exon_skip_3090461949497166:49497180:49497761:49498190:49502579:4950262149497761:49498190ENSG00000183207.8ENST00000598768.1
exon_skip_3090491949497166:49497180:49502575:49502630:49506535:4950659149502575:49502630ENSG00000183207.8ENST00000594017.1,ENST00000596247.1,ENST00000221413.6
exon_skip_3090581949502575:49502630:49504605:49504847:49506535:4950659149504605:49504847ENSG00000183207.8ENST00000593570.1
exon_skip_3090591949502575:49502630:49506535:49506591:49507463:4950767549506535:49506591ENSG00000183207.8ENST00000596247.1
exon_skip_3090601949502575:49502630:49506535:49506591:49507533:4950763949506535:49506591ENSG00000183207.8ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000595811.1,ENST00000221413.6
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENSG00000183207.8ENST00000596247.1
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENSG00000183207.8ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1
exon_skip_3090671949510274:49510404:49510558:49510625:49513032:4951312849510558:49510625ENSG00000183207.8ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000596247.1,ENST00000594338.1,ENST00000221413.6,ENST00000593570.1
exon_skip_3090721949510558:49510625:49513032:49513128:49513229:4951332349513032:49513128ENSG00000183207.8ENST00000221413.6
exon_skip_3090731949510558:49510625:49513032:49513139:49513229:4951332349513032:49513139ENSG00000183207.8ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000596247.1,ENST00000594338.1
exon_skip_3090751949514448:49514567:49517740:49517860:49518277:4951840749517740:49517860ENSG00000183207.8ENST00000413176.2,ENST00000595090.1,ENST00000596247.1,ENST00000594338.1,ENST00000221413.6
exon_skip_3090781949517740:49517860:49518277:49518407:49518828:4951894349518277:49518407ENSG00000183207.8ENST00000413176.2,ENST00000595090.1,ENST00000596247.1,ENST00000594338.1,ENST00000221413.6

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for RUVBL2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3090381949496872:49497159:49502575:49502630:49506535:4950659149502575:49502630ENSG00000183207.8ENST00000601968.1
exon_skip_3090401949496872:49497159:49506535:49506591:49507533:4950763949506535:49506591ENSG00000183207.8ENST00000596837.1
exon_skip_3090461949497166:49497180:49497761:49498190:49502579:4950262149497761:49498190ENSG00000183207.8ENST00000598768.1
exon_skip_3090491949497166:49497180:49502575:49502630:49506535:4950659149502575:49502630ENSG00000183207.8ENST00000594017.1,ENST00000596247.1,ENST00000221413.6
exon_skip_3090561949497432:49497598:49498036:49498190:49502575:4950263049498036:49498190ENSG00000183207.8ENST00000595811.1
exon_skip_3090581949502575:49502630:49504605:49504847:49506535:4950659149504605:49504847ENSG00000183207.8ENST00000593570.1
exon_skip_3090591949502575:49502630:49506535:49506591:49507463:4950767549506535:49506591ENSG00000183207.8ENST00000596247.1
exon_skip_3090601949502575:49502630:49506535:49506591:49507533:4950763949506535:49506591ENSG00000183207.8ENST00000595090.1,ENST00000601968.1,ENST00000595811.1,ENST00000594017.1,ENST00000221413.6,ENST00000413176.2,ENST00000594338.1
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENSG00000183207.8ENST00000596247.1
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENSG00000183207.8ENST00000595090.1,ENST00000601968.1,ENST00000596837.1,ENST00000594017.1,ENST00000221413.6,ENST00000413176.2,ENST00000593570.1,ENST00000594338.1
exon_skip_3090671949510274:49510404:49510558:49510625:49513032:4951312849510558:49510625ENSG00000183207.8ENST00000595090.1,ENST00000601968.1,ENST00000594017.1,ENST00000596247.1,ENST00000221413.6,ENST00000413176.2,ENST00000593570.1,ENST00000594338.1
exon_skip_3090721949510558:49510625:49513032:49513128:49513229:4951332349513032:49513128ENSG00000183207.8ENST00000221413.6
exon_skip_3090731949510558:49510625:49513032:49513139:49513229:4951332349513032:49513139ENSG00000183207.8ENST00000595090.1,ENST00000601968.1,ENST00000594017.1,ENST00000596247.1,ENST00000413176.2,ENST00000594338.1
exon_skip_3090751949514448:49514567:49517740:49517860:49518277:4951840749517740:49517860ENSG00000183207.8ENST00000595090.1,ENST00000596247.1,ENST00000221413.6,ENST00000413176.2,ENST00000594338.1
exon_skip_3090781949517740:49517860:49518277:49518407:49518828:4951894349518277:49518407ENSG00000183207.8ENST00000595090.1,ENST00000596247.1,ENST00000221413.6,ENST00000413176.2,ENST00000594338.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for RUVBL2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005950904950653549506591Frame-shift
ENST000005950904950753349507675Frame-shift
ENST000005950904951055849510625Frame-shift
ENST000005950904951303249513139Frame-shift
ENST000005950904951827749518407Frame-shift
ENST000005950904951774049517860In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005950904950653549506591Frame-shift
ENST000005950904950753349507675Frame-shift
ENST000005950904951055849510625Frame-shift
ENST000005950904951303249513139Frame-shift
ENST000005950904951827749518407Frame-shift
ENST000005950904951774049517860In-frame

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Infer the effects of exon skipping event on protein functional features for RUVBL2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000005950902026463495177404951786014661585334373

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000005950902026463495177404951786014661585334373

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9Y230334373331334Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X
Q9Y230334373341343Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X
Q9Y230334373354359Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X
Q9Y2303343732463ChainID=PRO_0000165644;Note=RuvB-like 2
Q9Y230334373348351HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X
Q9Y230334373364377HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9Y230334373331334Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X
Q9Y230334373341343Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X
Q9Y230334373354359Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X
Q9Y2303343732463ChainID=PRO_0000165644;Note=RuvB-like 2
Q9Y230334373348351HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X
Q9Y230334373364377HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6H7X


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SNVs in the skipped exons for RUVBL2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_309060
exon_skip_309040
exon_skip_309059
49506536495065914950655449506554Frame_Shift_DelG-p.R29fs
LIHCTCGA-DD-A1EG-01exon_skip_309072
49513033495131284951311249513112Frame_Shift_DelC-p.S136fs
LIHCTCGA-DD-A1EG-01exon_skip_309073
49513033495131394951311249513112Frame_Shift_DelC-p.S136fs
THYMTCGA-YT-A95F-01exon_skip_309060
exon_skip_309040
exon_skip_309059
49506536495065914950658949506589Nonsense_MutationCTp.Q41X
SKCMTCGA-EE-A2MK-06exon_skip_309067
49510559495106254951059949510599Nonsense_MutationCTp.Q101*
SKCMTCGA-EE-A2MK-06exon_skip_309067
49510559495106254951059949510599Nonsense_MutationCTp.Q146X
GBMTCGA-32-1991-01exon_skip_309067
49510559495106254951060849510608Nonsense_MutationCTp.R149*
KIRCTCGA-BP-5010-01exon_skip_309075
49517741495178604951774049517740Splice_SiteGA.
PRADTCGA-KK-A59X-01exon_skip_309075
49517741495178604951786149517861Splice_SiteGT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
RUVBL2_49502575_49502630_49506535_49506591_49507533_49507639_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_309059
Skipped exon start: 49506536
Skipped exon end: 49506591
Mutation start: 49506554
Mutation end: 49506554
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.R29fs
RUVBL2_49502575_49502630_49506535_49506591_49507533_49507639_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_309072
Skipped exon start: 49513033
Skipped exon end: 49513128
Mutation start: 49513112
Mutation end: 49513112
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.S136fs
RUVBL2_49502575_49502630_49506535_49506591_49507533_49507639_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_309073
Skipped exon start: 49513033
Skipped exon end: 49513139
Mutation start: 49513112
Mutation end: 49513112
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.S136fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
MDAPCA2B_PROSTATE49517741495178604951774649517746Frame_Shift_DelG-p.R336fs
RL952_ENDOMETRIUM49502576495026304950260349502603Missense_MutationCTp.R14C
KM12_LARGE_INTESTINE49506536495065914950657149506571Missense_MutationGAp.D35N
MCC26_SKIN49507534495076754950762949507630Missense_MutationCCTTp.L74F
MCC26_SKIN49507464495076754950762949507630Missense_MutationCCTTp.L74F
MCC26_SKIN49507534495076754950763049507630Missense_MutationCTp.L74F
MCC26_SKIN49507464495076754950763049507630Missense_MutationCTp.L74F
DV90_LUNG49510559495106254951056749510567Missense_MutationCTp.T135M
HS939T_SKIN49510559495106254951062149510621Missense_MutationGAp.G153E
MKN74_STOMACH49513033495131284951304949513049Missense_MutationAGp.K160R
MKN74_STOMACH49513033495131394951304949513049Missense_MutationAGp.K160R
MKN28_STOMACH49513033495131284951304949513049Missense_MutationAGp.K160R
MKN28_STOMACH49513033495131394951304949513049Missense_MutationAGp.K160R
SNU81_LARGE_INTESTINE49517741495178604951780849517808Missense_MutationGAp.V357I
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49518278495184074951828549518285Missense_MutationGAp.E377K
SNU407_LARGE_INTESTINE49518278495184074951835449518354Missense_MutationCTp.R400C
BT483_BREAST49510559495106254951056949510569Nonsense_MutationGTp.E136*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RUVBL2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1GBMrs11558800chr19:49507542A/G8.44e-06
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1COADrs11558800chr19:49507542A/G8.87e-13
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1ESCArs11558800chr19:49507542A/G5.61e-06
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1KIRPrs11558800chr19:49507542A/G4.72e-06
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1PRADrs11558800chr19:49507542A/G3.22e-17
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1SARCrs11558800chr19:49507542A/G2.48e-06
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1SKCMrs11558800chr19:49507542A/G6.23e-06
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1SKCMrs11558795chr19:49507578T/C6.23e-06
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1UVMrs11558800chr19:49507542A/G6.35e-07
exon_skip_3090621949506535:49506591:49507533:49507675:49510274:4951040449507533:49507675ENST00000601968.1,ENST00000413176.2,ENST00000594017.1,ENST00000595090.1,ENST00000594338.1,ENST00000596837.1,ENST00000221413.6,ENST00000593570.1UVMrs11558795chr19:49507578T/C6.35e-07
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1GBMrs11558800chr19:49507542A/G8.44e-06
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1COADrs11558800chr19:49507542A/G8.87e-13
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1ESCArs11558800chr19:49507542A/G5.61e-06
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1KIRPrs11558800chr19:49507542A/G4.72e-06
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1PRADrs11558800chr19:49507542A/G3.22e-17
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1SARCrs11558800chr19:49507542A/G2.48e-06
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1SKCMrs11558800chr19:49507542A/G6.23e-06
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1SKCMrs11558795chr19:49507578T/C6.23e-06
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1UVMrs11558800chr19:49507542A/G6.35e-07
exon_skip_3090611949506535:49506591:49507463:49507675:49510274:4951040449507463:49507675ENST00000596247.1UVMrs11558795chr19:49507578T/C6.35e-07

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RUVBL2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RUVBL2


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RelatedDrugs for RUVBL2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RUVBL2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource