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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 RBL2

check button Gene summary
Gene informationGene symbol

RBL2

Gene ID

5934

Gene nameRB transcriptional corepressor like 2
SynonymsP130|Rb2
Cytomap

16q12.2

Type of geneprotein-coding
Descriptionretinoblastoma-like protein 2130 kDa retinoblastoma-associated proteinPRB2RBR-2retinoblastoma-like 2retinoblastoma-related protein 2
Modification date20180523
UniProtAcc

Q08999

ContextPubMed: RBL2 [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
RBL2

GO:0043550

regulation of lipid kinase activity

16286473


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Exon skipping events across known transcript of Ensembl for RBL2 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 RBL2

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 RBL2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1364781653468331:53468708:53472927:53473058:53476569:5347677053472927:53473058ENSG00000103479.10ENST00000262133.6
exon_skip_1364791653472927:53473058:53476569:53476770:53480953:5348101853476569:53476770ENSG00000103479.10ENST00000544405.2,ENST00000567964.2,ENST00000262133.6
exon_skip_1364811653476569:53476770:53480953:53481018:53485614:5348574353480953:53481018ENSG00000103479.10ENST00000544405.2,ENST00000567964.2,ENST00000262133.6
exon_skip_1364821653480953:53481018:53485614:53485743:53487363:5348737553485614:53485743ENSG00000103479.10ENST00000544405.2,ENST00000379935.4,ENST00000567964.2,ENST00000262133.6
exon_skip_1364831653487616:53487681:53488137:53488259:53488567:5348875453488137:53488259ENSG00000103479.10ENST00000379935.4
exon_skip_1364851653488567:53488754:53493362:53493529:53495652:5349576253493362:53493529ENSG00000103479.10ENST00000544405.2,ENST00000379935.4,ENST00000544545.1,ENST00000262133.6
exon_skip_1364861653495680:53495762:53496463:53496567:53498137:5349827553496463:53496567ENSG00000103479.10ENST00000544405.2,ENST00000561512.1,ENST00000379935.4,ENST00000544545.1,ENST00000262133.6
exon_skip_1364871653496463:53496567:53498137:53498275:53499349:5349951453498137:53498275ENSG00000103479.10ENST00000544405.2,ENST00000379935.4,ENST00000544545.1,ENST00000262133.6
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENSG00000103479.10ENST00000379935.4,ENST00000262133.6
exon_skip_1364921653504657:53504834:53513065:53513137:53513797:5351390353513065:53513137ENSG00000103479.10ENST00000379935.4,ENST00000262133.6
exon_skip_1364961653514478:53514681:53515582:53515747:53524041:5352421353515582:53515747ENSG00000103479.10ENST00000379935.4,ENST00000262133.6

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

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Exon skipping events with PSIs in GTEx for RBL2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1364781653468331:53468708:53472927:53473058:53476569:5347677053472927:53473058ENSG00000103479.10ENST00000262133.6
exon_skip_1364791653472927:53473058:53476569:53476770:53480953:5348101853476569:53476770ENSG00000103479.10ENST00000567964.2,ENST00000262133.6,ENST00000544405.2
exon_skip_1364811653476569:53476770:53480953:53481018:53485614:5348574353480953:53481018ENSG00000103479.10ENST00000567964.2,ENST00000262133.6,ENST00000544405.2
exon_skip_1364821653480953:53481018:53485614:53485743:53487363:5348737553485614:53485743ENSG00000103479.10ENST00000567964.2,ENST00000262133.6,ENST00000544405.2,ENST00000379935.4
exon_skip_1364831653487616:53487681:53488137:53488259:53488567:5348875453488137:53488259ENSG00000103479.10ENST00000379935.4
exon_skip_1364851653488567:53488754:53493362:53493529:53495652:5349576253493362:53493529ENSG00000103479.10ENST00000262133.6,ENST00000544405.2,ENST00000379935.4,ENST00000544545.1
exon_skip_1364861653495680:53495762:53496463:53496567:53498137:5349827553496463:53496567ENSG00000103479.10ENST00000262133.6,ENST00000544405.2,ENST00000379935.4,ENST00000544545.1,ENST00000561512.1
exon_skip_1364871653496463:53496567:53498137:53498275:53499349:5349951453498137:53498275ENSG00000103479.10ENST00000262133.6,ENST00000544405.2,ENST00000379935.4,ENST00000544545.1
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENSG00000103479.10ENST00000262133.6,ENST00000379935.4
exon_skip_1364921653504657:53504834:53513065:53513137:53513797:5351390353513065:53513137ENSG00000103479.10ENST00000262133.6,ENST00000379935.4
exon_skip_1364961653514478:53514681:53515582:53515747:53524041:5352421353515582:53515747ENSG00000103479.10ENST00000262133.6,ENST00000379935.4

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 RBL2

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
ENST000002621335347292753473058Frame-shift
ENST000002621335348095353481018Frame-shift
ENST000002621335349336253493529Frame-shift
ENST000002621335349646353496567Frame-shift
ENST000002621335347656953476770In-frame
ENST000002621335348561453485743In-frame
ENST000002621335349813753498275In-frame
ENST000002621335350382753504097In-frame
ENST000002621335351306553513137In-frame
ENST000002621335351558253515747In-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
ENST000002621335347292753473058Frame-shift
ENST000002621335348095353481018Frame-shift
ENST000002621335349336253493529Frame-shift
ENST000002621335349646353496567Frame-shift
ENST000002621335347656953476770In-frame
ENST000002621335348561453485743In-frame
ENST000002621335349813753498275In-frame
ENST000002621335350382753504097In-frame
ENST000002621335351306553513137In-frame
ENST000002621335351558253515747In-frame

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Infer the effects of exon skipping event on protein functional features for RBL2

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
ENST00000262133492311395347656953476770509709124190
ENST00000262133492311395348561453485743775903212255
ENST0000026213349231139534981375349827516981835520566
ENST0000026213349231139535038275350409721132382658748
ENST0000026213349231139535130655351313728412912901925
ENST000002621334923113953515582535157473222338610281083

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
ENST00000262133492311395347656953476770509709124190
ENST00000262133492311395348561453485743775903212255
ENST0000026213349231139534981375349827516981835520566
ENST0000026213349231139535038275350409721132382658748
ENST0000026213349231139535130655351313728412912901925
ENST000002621334923113953515582535157473222338610281083

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
Q089991241901216Alternative sequenceID=VSP_054328;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0899912419011139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q089992122551216Alternative sequenceID=VSP_054328;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0899921225511139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q0899952056611139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q089995205664171024RegionNote=Pocket%3B binds E1A
Q08999520566417616RegionNote=Domain A
Q089996587486381042Alternative sequenceID=VSP_054329;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0899965874811139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q08999658748662662Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163
Q08999658748672672Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000269|PubMed:12435635;Dbxref=PMID:19690332,PMID:12435635
Q08999658748688688Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q089996587484171024RegionNote=Pocket%3B binds E1A
Q08999658748617827RegionNote=Spacer
Q089999019256381042Alternative sequenceID=VSP_054329;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0899990192511139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q089999019254171024RegionNote=Pocket%3B binds E1A
Q089999019258281024RegionNote=Domain B
Q08999102810836381042Alternative sequenceID=VSP_054329;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q089991028108311139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q089991028108310351035Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332
Q089991028108310681068Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q089991028108310801080Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163


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
Q089991241901216Alternative sequenceID=VSP_054328;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0899912419011139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q089992122551216Alternative sequenceID=VSP_054328;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0899921225511139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q0899952056611139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q089995205664171024RegionNote=Pocket%3B binds E1A
Q08999520566417616RegionNote=Domain A
Q089996587486381042Alternative sequenceID=VSP_054329;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0899965874811139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q08999658748662662Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163
Q08999658748672672Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000269|PubMed:12435635;Dbxref=PMID:19690332,PMID:12435635
Q08999658748688688Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q089996587484171024RegionNote=Pocket%3B binds E1A
Q08999658748617827RegionNote=Spacer
Q089999019256381042Alternative sequenceID=VSP_054329;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q0899990192511139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q089999019254171024RegionNote=Pocket%3B binds E1A
Q089999019258281024RegionNote=Domain B
Q08999102810836381042Alternative sequenceID=VSP_054329;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q089991028108311139ChainID=PRO_0000167841;Note=Retinoblastoma-like protein 2
Q089991028108310351035Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332
Q089991028108310681068Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q089991028108310801080Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163


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SNVs in the skipped exons for RBL2

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.
RBL2_KIRC_exon_skip_136491_psi_boxplot.png
boxplot
RBL2_KIRP_exon_skip_136491_psi_boxplot.png
boxplot
RBL2_LIHC_exon_skip_136487_psi_boxplot.png
boxplot
RBL2_LIHC_exon_skip_136491_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
UCECTCGA-B5-A0K9-01exon_skip_136479
53476570534767705347658053476580Frame_Shift_DelT-p.F128fs
PCPGTCGA-SP-A6QF-01exon_skip_136479
53476570534767705347667153476671Frame_Shift_DelT-p.V158fs
STADTCGA-BR-4361-01exon_skip_136479
53476570534767705347670453476704Frame_Shift_DelT-p.I169fs
LIHCTCGA-DD-A1EG-01exon_skip_136486
53496464534965675349650053496500Frame_Shift_DelT-p.L498fs
LIHCTCGA-DD-A1EG-01exon_skip_136486
53496464534965675349653953496539Frame_Shift_DelA-p.Q511fs
LIHCTCGA-G3-A3CJ-01exon_skip_136491
53503828535040975350393853503938Frame_Shift_DelG-p.G696fs
LIHCTCGA-DD-A39Y-01exon_skip_136491
53503828535040975350394753503947Frame_Shift_DelC-p.P700fs
LIHCTCGA-G3-A3CJ-01exon_skip_136491
53503828535040975350395653503956Frame_Shift_DelC-p.P702fs
LIHCTCGA-G3-A3CJ-01exon_skip_136491
53503828535040975350399253503992Frame_Shift_DelG-p.G714fs
LIHCTCGA-DD-A1EG-01exon_skip_136491
53503828535040975350400253504002Frame_Shift_DelT-p.V717fs
KIRPTCGA-A4-8516-01exon_skip_136492
53513066535131375351307153513071Frame_Shift_DelA-p.T903fs
LIHCTCGA-DD-A3A0-01exon_skip_136496
53515583535157475351568253515682Frame_Shift_DelA-p.K1062fs
UCECTCGA-B5-A0JR-01exon_skip_136486
53496464534965675349653853496539Frame_Shift_Ins-Ap.Q511fs
KIRCTCGA-CZ-5456-01exon_skip_136491
53503828535040975350404653504047Frame_Shift_Ins-Cp.T732fs
KIRPTCGA-A4-A4ZT-01exon_skip_136491
53503828535040975350404653504047Frame_Shift_Ins-Cp.T732fs
UCECTCGA-B5-A11E-01exon_skip_136481
53480954534810185348095553480955Nonsense_MutationCTp.R192*
HNSCTCGA-QK-A6IJ-01exon_skip_136486
53496464534965675349650453496504Nonsense_MutationCGp.Y499*
UCECTCGA-BS-A0UV-01exon_skip_136486
53496464534965675349651753496517Nonsense_MutationGTp.E504*
UCECTCGA-D1-A160-01exon_skip_136491
53503828535040975350398053503980Nonsense_MutationCTp.Q710*
UCECTCGA-AP-A0LM-01exon_skip_136496
53515583535157475351563753515637Nonsense_MutationCTp.R1047*
UCECTCGA-BS-A0UV-01exon_skip_136496
53515583535157475351570953515709Nonsense_MutationGTp.E1071*
LIHCTCGA-UB-A7MB-01exon_skip_136487
53498138534982755349813653498136Splice_SiteAG.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
RBL2_53500969_53501081_53503827_53504097_53504294_53504575_TCGA-CZ-5456-01Sample: TCGA-CZ-5456-01
Cancer type: KIRC
ESID: exon_skip_136491
Skipped exon start: 53503828
Skipped exon end: 53504097
Mutation start: 53504046
Mutation end: 53504047
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.T732fs
exon_skip_136491_KIRC_TCGA-CZ-5456-01.png
boxplot
exon_skip_384879_KIRC_TCGA-CZ-5456-01.png
boxplot
RBL2_53496463_53496567_53498137_53498275_53499349_53499514_TCGA-UB-A7MB-01Sample: TCGA-UB-A7MB-01
Cancer type: LIHC
ESID: exon_skip_136487
Skipped exon start: 53498138
Skipped exon end: 53498275
Mutation start: 53498136
Mutation end: 53498136
Mutation type: Splice_Site
Reference seq: A
Mutation seq: G
AAchange: .
exon_skip_124728_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_128735_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_136487_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_32461_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_495073_LIHC_TCGA-UB-A7MB-01.png
boxplot
exon_skip_85286_LIHC_TCGA-UB-A7MB-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC151_ENDOMETRIUM53476570534767705347670453476704Frame_Shift_DelT-p.I169fs
CAL51_BREAST53476570534767705347670453476704Frame_Shift_DelT-p.I169fs
HCC1500_BREAST53485615534857435348567253485672Frame_Shift_DelC-p.A232fs
SNU1040_LARGE_INTESTINE53498138534982755349826653498266Frame_Shift_DelT-p.H563fs
MFE319_ENDOMETRIUM53476570534767705347657953476580Frame_Shift_Ins-Tp.F128fs
JHUEM7_ENDOMETRIUM53476570534767705347657753476577Missense_MutationGAp.E127K
HEC251_ENDOMETRIUM53476570534767705347659753476597Missense_MutationGTp.K133N
TGBC11TKB_STOMACH53476570534767705347671553476715Missense_MutationATp.I173F
NCIH1339_LUNG53476570534767705347671753476717Missense_MutationCGp.I173M
HEC251_ENDOMETRIUM53485615534857435348571153485711Missense_MutationACp.N245T
CW2_LARGE_INTESTINE53485615534857435348571353485713Missense_MutationCTp.R246C
OC316_OVARY53493363534935295349345153493451Missense_MutationCTp.T423M
OC314_OVARY53493363534935295349345153493451Missense_MutationCTp.T423M
VMCUB1_URINARY_TRACT53493363534935295349350953493509Missense_MutationGCp.E442D
HCC2998_LARGE_INTESTINE53496464534965675349648453496484Missense_MutationCTp.R493C
CW2_LARGE_INTESTINE53496464534965675349648553496485Missense_MutationGAp.R493H
HCC15_LUNG53496464534965675349653453496534Missense_MutationGTp.Q509H
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE53496464534965675349655653496556Missense_MutationAGp.M517V
HEC108_ENDOMETRIUM53498138534982755349824553498245Missense_MutationAGp.I556M
LC1F_LUNG53503828535040975350396953503969Missense_MutationCGp.A706G
LC1SQSF_LUNG53503828535040975350396953503969Missense_MutationCGp.A706G
LC1SQ_LUNG53503828535040975350396953503969Missense_MutationCGp.A706G
HEC108_ENDOMETRIUM53503828535040975350401653504016Missense_MutationGAp.V722I
MCC13_SKIN53503828535040975350401953504019Missense_MutationCTp.P723S
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE53503828535040975350404953504049Missense_MutationGAp.A733T
LS411N_LARGE_INTESTINE53503828535040975350407653504076Missense_MutationAGp.T742A
BICR18_UPPER_AERODIGESTIVE_TRACT53513066535131375351308253513082Missense_MutationAGp.K907R
SNU1040_LARGE_INTESTINE53513066535131375351310253513102Missense_MutationCTp.R914C
NCIH1838_LUNG53515583535157475351560153515601Missense_MutationTAp.S1035T
KM12_LARGE_INTESTINE53515583535157475351560553515605Missense_MutationCTp.P1036L
HEC251_ENDOMETRIUM53515583535157475351572853515728Missense_MutationTGp.F1077C
SW684_SOFT_TISSUE53476570534767705347660353476603Nonsense_MutationGAp.W135*
NCIH1436_LUNG53503828535040975350402253504022Nonsense_MutationGTp.G724*
SIHA_CERVIX53515583535157475351570653515706Nonsense_MutationCTp.R1070*
ESS1_ENDOMETRIUM53515583535157475351572653515726Nonsense_MutationCAp.Y1076*
Y79_AUTONOMIC_GANGLIA53472928534730585347305753473057Splice_SiteAGp.S124G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBL2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6COADrs1131220chr16:53503934G/A4.10e-05
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6COADrs1131220chr16:53503934G/A4.10e-05
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6HNSCrs1131220chr16:53503934G/A4.72e-04
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LAMLrs1131220chr16:53503934G/A1.91e-04
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LAMLrs1131220chr16:53503934G/A1.91e-04
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6KIRCrs1131220chr16:53503934G/A1.13e-20
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6KIRCrs1131220chr16:53503934G/A2.11e-19
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6KIRCrs11540358chr16:53503943C/G2.31e-08
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6KIRCrs11540358chr16:53503943C/G6.53e-07
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LUADrs1131220chr16:53503934G/A6.16e-17
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LUADrs1131220chr16:53503934G/A1.00e-13
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LUADrs11540358chr16:53503943C/G3.17e-09
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LUADrs11540358chr16:53503943C/G1.41e-08
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LUSCrs1131220chr16:53503934G/A1.03e-06
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LUSCrs1131220chr16:53503934G/A2.74e-06
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LUSCrs11540358chr16:53503943C/G2.07e-04
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6LUSCrs11540358chr16:53503943C/G6.40e-04
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6PAADrs1131220chr16:53503934G/A1.96e-07
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6PAADrs1131220chr16:53503934G/A9.99e-07
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6PAADrs11540358chr16:53503943C/G2.37e-04
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6STADrs1131220chr16:53503934G/A8.31e-06
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6STADrs1131220chr16:53503934G/A4.32e-05
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6THCArs1131220chr16:53503934G/A4.81e-09
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6THCArs1131220chr16:53503934G/A9.12e-05
exon_skip_1364911653500969:53501081:53503827:53504097:53504294:5350457553503827:53504097ENST00000379935.4,ENST00000262133.6THCArs11540358chr16:53503943C/G2.81e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBL2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBL2


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RelatedDrugs for RBL2

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 RBL2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
RBL2C0023434Chronic Lymphocytic Leukemia1CTD_human
RBL2C0023893Liver Cirrhosis, Experimental1CTD_human
RBL2C0919267ovarian neoplasm1CTD_human