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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for RRBP1

check button Gene summary
Gene informationGene symbol

RRBP1

Gene ID

6238

Gene nameribosome binding protein 1
SynonymsES/130|ES130|RRp|hES
Cytomap

20p12.1

Type of geneprotein-coding
Descriptionribosome-binding protein 1180 kDa ribosome receptor homologES/130-related proteinribosome binding protein 1 homolog 180kDa (dog)ribosome receptor protein
Modification date20200313
UniProtAcc

A0A087WU26,

A0A087WVV2,

A1A5C4,

A1A5C5,

A2A2S5,

A7BI36,

F8W7S5,

Q32NB1,

Q9P2E9,

V9GY78,

Context- 31951107(Novel Alzheimer risk genes determine the microglia response to amyloid-beta but not to TAU pathology)

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

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Gene structures and expression levels for RRBP1

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000125844
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
PGUPENST00000398782.2RRBP1-205:protein_coding:RRBP13.420234e+018.481868e-014.246550e-074.639896e-05
CBDOWNENST00000470422.5RRBP1-208:protein_coding:RRBP12.552693e+01-9.820734e-011.486613e-062.099529e-05
TCDOWNENST00000470422.5RRBP1-208:protein_coding:RRBP12.762244e+01-1.218816e+005.312586e-072.422201e-05

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RRBP1

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_108139chr2017659980:17660528:17679999:17680075:17682028:1768206017679999:17680075
exon_skip_193chr2017636577:17636729:17641797:17641919:17642979:1764308517641797:17641919
exon_skip_21703chr2017615431:17615529:17615926:17616009:17616732:1761683917615926:17616009
exon_skip_219145chr2017621855:17621947:17624576:17624668:17625512:1762560217624576:17624668
exon_skip_237925chr2017615926:17616009:17616732:17616839:17618596:1761867917616732:17616839
exon_skip_36375chr2017660501:17660528:17679999:17680075:17682028:1768206017679999:17680075
exon_skip_44314chr2017633460:17633613:17635546:17635664:17636577:1763672917635546:17635664
exon_skip_99535chr2017625512:17625602:17627348:17627382:17627504:1762768217627348:17627382

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for RRBP1

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037781317679999176800753UTR-3UTR
ENST000002460431762734817627382Frame-shift
ENST000003778131762734817627382Frame-shift
ENST000002460431761592617616009In-frame
ENST000003778131761592617616009In-frame
ENST000002460431761673217616839In-frame
ENST000003778131761673217616839In-frame
ENST000002460431764179717641919In-frame
ENST000003778131764179717641919In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037781317679999176800753UTR-3UTR
ENST000002460431761673217616839In-frame
ENST000003778131761673217616839In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037781317679999176800753UTR-3UTR
ENST000002460431762734817627382Frame-shift
ENST000003778131762734817627382Frame-shift
ENST000002460431763554617635664Frame-shift
ENST000003778131763554617635664Frame-shift
ENST000002460431761673217616839In-frame
ENST000003778131761673217616839In-frame
ENST000002460431762457617624668In-frame
ENST000003778131762457617624668In-frame

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Infer the effects of exon skipping event on protein functional features for RRBP1

p-ENSG00000125844_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000024604347541410176417971764191920622183687727
ENST0000037781350581410176417971764191923662487687727
ENST000002460434754141017616732176168393760386612531288
ENST000003778135058141017616732176168394064417012531288
ENST000002460434754141017615926176160093868395012891316
ENST000003778135058141017615926176160094172425412891316

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002460434754141017616732176168393760386612531288
ENST000003778135058141017616732176168394064417012531288

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002460434754141017624576176246683055314610181048
ENST000003778135058141017624576176246683359345010181048
ENST000002460434754141017616732176168393760386612531288
ENST000003778135058141017616732176168394064417012531288

check button Lost protein functional features of individual exon skipping events in ROSMAP.
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
Q9P2E968772711410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E968772711410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E9687727291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E9687727291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E91253128811410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91253128811410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91253128812761276Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9P2E91253128812761276Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9P2E91253128812771277Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569
Q9P2E91253128812771277Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569
Q9P2E912531288291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E912531288291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E91289131611410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91289131611410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91289131613121312Sequence conflictNote=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E91289131613121312Sequence conflictNote=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E912891316291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E912891316291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

check button Lost protein functional features of individual exon skipping events in MSBB.
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
Q9P2E91253128811410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91253128811410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91253128812761276Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9P2E91253128812761276Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9P2E91253128812771277Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569
Q9P2E91253128812771277Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569
Q9P2E912531288291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E912531288291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

check button Lost protein functional features of individual exon skipping events in Mayo.
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
Q9P2E91018104811410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91018104811410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91018104810431043Sequence conflictNote=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E91018104810431043Sequence conflictNote=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E91018104810431043Sequence conflictNote=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E91018104810431043Sequence conflictNote=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E91018104810431043Sequence conflictNote=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E91018104810431043Sequence conflictNote=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E91018104810431043Sequence conflictNote=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E91018104810431043Sequence conflictNote=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9P2E910181048291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E910181048291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E91253128811410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91253128811410ChainID=PRO_0000097441;Note=Ribosome-binding protein 1
Q9P2E91253128812761276Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9P2E91253128812761276Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9P2E91253128812771277Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569
Q9P2E91253128812771277Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569
Q9P2E912531288291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9P2E912531288291410Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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3'-UTR located exon skipping events that lost miRNA binding sites in RRBP1

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda
MayoENST000003778131767999917680075hsa-miR-4254chr20:17680046-176800538mer-1achr20:17680046-17680066160.00-25.13
MayoENST000003778131767999917680075hsa-miR-7162-3pchr20:17680053-176800608mer-1achr20:17680046-17680066160.00-25.13
MayoENST000003778131767999917680075hsa-miR-1267chr20:17680024-176800318mer-1achr20:17680011-17680031158.00-14.95
MayoENST000003778131767999917680075hsa-miR-642a-5pchr20:17680031-176800388mer-1achr20:17680029-17680050164.00-23.03
MayoENST000003778131767999917680075hsa-miR-12119chr20:17680054-176800618mer-1achr20:17680046-17680066160.00-25.13
MayoENST000003778131767999917680075hsa-miR-6892-3pchr20:17680030-176800378mer-1achr20:17680029-17680050164.00-23.03
MayoENST000003778131767999917680075hsa-miR-671-3pchr20:17680059-176800668mer-1achr20:17680046-17680066160.00-25.13
MayoENST000003778131767999917680075hsa-miR-6851-5pchr20:17680043-176800508mer-1achr20:17680029-17680050164.00-23.03
MayoENST000003778131767999917680075hsa-miR-3689dchr20:17680043-176800508mer-1achr20:17680029-17680050164.00-23.03
MSBBENST000003778131767999917680075hsa-miR-4254chr20:17680046-176800538mer-1achr20:17680046-17680066160.00-25.13
MSBBENST000003778131767999917680075hsa-miR-7162-3pchr20:17680053-176800608mer-1achr20:17680046-17680066160.00-25.13
MSBBENST000003778131767999917680075hsa-miR-1267chr20:17680024-176800318mer-1achr20:17680011-17680031158.00-14.95
MSBBENST000003778131767999917680075hsa-miR-642a-5pchr20:17680031-176800388mer-1achr20:17680029-17680050164.00-23.03
MSBBENST000003778131767999917680075hsa-miR-12119chr20:17680054-176800618mer-1achr20:17680046-17680066160.00-25.13
MSBBENST000003778131767999917680075hsa-miR-6892-3pchr20:17680030-176800378mer-1achr20:17680029-17680050164.00-23.03
MSBBENST000003778131767999917680075hsa-miR-671-3pchr20:17680059-176800668mer-1achr20:17680046-17680066160.00-25.13
MSBBENST000003778131767999917680075hsa-miR-6851-5pchr20:17680043-176800508mer-1achr20:17680029-17680050164.00-23.03
MSBBENST000003778131767999917680075hsa-miR-3689dchr20:17680043-176800508mer-1achr20:17680029-17680050164.00-23.03
ROSMAPENST000003778131767999917680075hsa-miR-4254chr20:17680046-176800538mer-1achr20:17680046-17680066160.00-25.13
ROSMAPENST000003778131767999917680075hsa-miR-7162-3pchr20:17680053-176800608mer-1achr20:17680046-17680066160.00-25.13
ROSMAPENST000003778131767999917680075hsa-miR-1267chr20:17680024-176800318mer-1achr20:17680011-17680031158.00-14.95
ROSMAPENST000003778131767999917680075hsa-miR-642a-5pchr20:17680031-176800388mer-1achr20:17680029-17680050164.00-23.03
ROSMAPENST000003778131767999917680075hsa-miR-12119chr20:17680054-176800618mer-1achr20:17680046-17680066160.00-25.13
ROSMAPENST000003778131767999917680075hsa-miR-6892-3pchr20:17680030-176800378mer-1achr20:17680029-17680050164.00-23.03
ROSMAPENST000003778131767999917680075hsa-miR-671-3pchr20:17680059-176800668mer-1achr20:17680046-17680066160.00-25.13
ROSMAPENST000003778131767999917680075hsa-miR-6851-5pchr20:17680043-176800508mer-1achr20:17680029-17680050164.00-23.03
ROSMAPENST000003778131767999917680075hsa-miR-3689dchr20:17680043-176800508mer-1achr20:17680029-17680050164.00-23.03

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SNVs in the skipped exons for RRBP1

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

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for RRBP1

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RRBP1

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for RRBP1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTRA2Aexon_skip_108139-4.107781e-019.108024e-08
IFGRBM25exon_skip_1081394.801125e-011.514205e-02
IFGSFPQexon_skip_1081394.445772e-012.597112e-02

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RelatedDrugs for RRBP1

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

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RelatedDiseases for RRBP1

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