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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 XRRA1

check button Gene summary
Gene informationGene symbol

XRRA1

Gene ID

143570

Gene nameX-ray radiation resistance associated 1
Synonyms-
Cytomap

11q13.4

Type of geneprotein-coding
DescriptionX-ray radiation resistance-associated protein 1
Modification date20200313
UniProtAcc

E9PIR2,

E9PJ58,

E9PL06,

E9PMT6,

E9PP69,

H0YD10,

Q6P2D8,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
XRRA1

GO:0010165

response to X-ray

12908878


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Gene structures and expression levels for XRRA1

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

ENSG00000166435
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
CBUPENST00000531852.5XRRA1-216:protein_coding:XRRA11.047172e+001.544265e+002.562575e-031.132145e-02
CBUPENST00000524430.1XRRA1-204:lncRNA:XRRA11.481806e+001.648209e+001.481864e-024.779035e-02

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 XRRA1

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_101498chr1174907148:74907273:74921214:74921347:74936884:7493691674921214:74921347
exon_skip_10741chr1174851989:74852082:74906239:74906456:74907145:7490722174906239:74906456
exon_skip_127133chr1174852034:74852082:74862981:74863021:74906239:7490635274862981:74863021
exon_skip_165512chr1174848125:74848462:74851088:74851203:74851989:7485206474851088:74851203
exon_skip_175608chr1174930300:74930372:74933801:74933872:74936884:7493691674933801:74933872
exon_skip_178941chr1174930300:74930372:74933801:74933872:74936884:7493706874933801:74933872
exon_skip_181185chr1174936884:74937068:74945018:74945085:74948928:7494902074945018:74945085
exon_skip_191211chr1174843441:74843453:74843854:74843959:74844168:7484428374843854:74843959
exon_skip_2chr1174921275:74921347:74927391:74927488:74930300:7493037274927391:74927488
exon_skip_200715chr1174936884:74937068:74940785:74940882:74945018:7494508574940785:74940882
exon_skip_20544chr1174859167:74859283:74862981:74863021:74906239:7490645674862981:74863021
exon_skip_208264chr1174848125:74848462:74851088:74851203:74906239:7490635274851088:74851203
exon_skip_21623chr1174851989:74852082:74907145:74907273:74921214:7492129974907145:74907273
exon_skip_220899chr1174930300:74930372:74933825:74933872:74936884:7493706874933825:74933872
exon_skip_22502chr1174851989:74852082:74862981:74863021:74906239:7490635274862981:74863021
exon_skip_22593chr1174843350:74843453:74843854:74843959:74844168:7484428374843854:74843959
exon_skip_243321chr1174906353:74906456:74907145:74907273:74921214:7492129974907145:74907273
exon_skip_248183chr1174851989:74852082:74906239:74906456:74907145:7490727374906239:74906456
exon_skip_27671chr1174930300:74930372:74933825:74933872:74936884:7493691674933825:74933872
exon_skip_33843chr1174851989:74852082:74859158:74859283:74862981:7486302174859158:74859283
exon_skip_35888chr1174851088:74851203:74851989:74852082:74906239:7490635274851989:74852082
exon_skip_7767chr1174843370:74843453:74843854:74843959:74844168:7484428374843854:74843959
exon_skip_80018chr1174906840:74907273:74909889:74910012:74921214:7492129974909889:74910012
exon_skip_81637chr1174852034:74852082:74859158:74859283:74862981:7486302174859158:74859283
exon_skip_84678chr1174862981:74863021:74906239:74906456:74907145:7490722174906239:74906456
exon_skip_93890chr1174936884:74937068:74940785:74940882:74948928:7494902074940785:74940882
exon_skip_96594chr1174940785:74940882:74945018:74945085:74948928:7494902074945018:74945085
exon_skip_97099chr1174851088:74851203:74851989:74852082:74862981:7486302174851989:74852082
exon_skip_98264chr1174921275:74921347:74930300:74930372:74933801:7493387274930300:74930372

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_22593Mayo_CB4.809375e-013.718033e-011.091342e-011.707619e-02


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Open reading frame (ORF) annotation in the exon skipping event for XRRA1

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
ENST0000034036074940785749408823UTR-3CDS
ENST0000034036074945018749450853UTR-3UTR
ENST000003403607484385474843959Frame-shift
ENST000003403607485108874851203Frame-shift
ENST000003403607486298174863021Frame-shift
ENST000003403607490623974906456Frame-shift
ENST000003403607492739174927488Frame-shift
ENST000003403607485915874859283In-frame
ENST000003403607493382574933872In-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
ENST0000034036074940785749408823UTR-3CDS
ENST0000034036074945018749450853UTR-3UTR
ENST000003403607484385474843959Frame-shift
ENST000003403607492739174927488Frame-shift
ENST000003403607485915874859283In-frame
ENST000003403607493382574933872In-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
ENST0000034036074940785749408823UTR-3CDS
ENST0000034036074945018749450853UTR-3UTR
ENST000003403607484385474843959Frame-shift
ENST000003403607485108874851203Frame-shift
ENST000003403607490623974906456Frame-shift
ENST000003403607492739174927488Frame-shift
ENST000003403607485915874859283In-frame
ENST000003403607490714574907273In-frame
ENST000003403607493382574933872In-frame

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Infer the effects of exon skipping event on protein functional features for XRRA1

p-ENSG00000166435_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
ENST000003403605698792749338257493387261265893108
ENST000003403605698792748591587485928313531477340381

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
ENST000003403605698792749338257493387261265893108
ENST000003403605698792748591587485928313531477340381

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
ENST000003403605698792749338257493387261265893108
ENST00000340360569879274907145749072739651092211253
ENST000003403605698792748591587485928313531477340381

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
Q6P2D8931081233Alternative sequenceID=VSP_044988;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D8931081792ChainID=PRO_0000318130;Note=X-ray radiation resistance-associated protein 1
Q6P2D893108104125RepeatNote=LRR 1
Q6P2D8340381327413Alternative sequenceID=VSP_052670;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D8340381327382Alternative sequenceID=VSP_052671;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q6P2D8340381327340Alternative sequenceID=VSP_052672;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12908878;Dbxref=PMID:12908878
Q6P2D8340381341382Alternative sequenceID=VSP_044989;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D83403811792ChainID=PRO_0000318130;Note=X-ray radiation resistance-associated protein 1
Q6P2D8340381356356Sequence conflictNote=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q6P2D8931081233Alternative sequenceID=VSP_044988;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D8931081792ChainID=PRO_0000318130;Note=X-ray radiation resistance-associated protein 1
Q6P2D893108104125RepeatNote=LRR 1
Q6P2D8340381327413Alternative sequenceID=VSP_052670;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D8340381327382Alternative sequenceID=VSP_052671;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q6P2D8340381327340Alternative sequenceID=VSP_052672;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12908878;Dbxref=PMID:12908878
Q6P2D8340381341382Alternative sequenceID=VSP_044989;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D83403811792ChainID=PRO_0000318130;Note=X-ray radiation resistance-associated protein 1
Q6P2D8340381356356Sequence conflictNote=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q6P2D8931081233Alternative sequenceID=VSP_044988;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D8931081792ChainID=PRO_0000318130;Note=X-ray radiation resistance-associated protein 1
Q6P2D893108104125RepeatNote=LRR 1
Q6P2D82112531233Alternative sequenceID=VSP_044988;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D82112531792ChainID=PRO_0000318130;Note=X-ray radiation resistance-associated protein 1
Q6P2D8211253229250RepeatNote=LRR 5
Q6P2D8340381327413Alternative sequenceID=VSP_052670;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D8340381327382Alternative sequenceID=VSP_052671;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q6P2D8340381327340Alternative sequenceID=VSP_052672;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12908878;Dbxref=PMID:12908878
Q6P2D8340381341382Alternative sequenceID=VSP_044989;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6P2D83403811792ChainID=PRO_0000318130;Note=X-ray radiation resistance-associated protein 1
Q6P2D8340381356356Sequence conflictNote=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305


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3'-UTR located exon skipping events that lost miRNA binding sites in XRRA1

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

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SNVs in the skipped exons for XRRA1

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 XRRA1

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 XRRA1

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 XRRA1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for XRRA1

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 XRRA1

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