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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 OXR1

check button Gene summary
Gene informationGene symbol

OXR1

Gene ID

55074

Gene nameoxidation resistance 1
SynonymsCHEGDD|Nbla00307|TLDC3
Cytomap

8q23.1

Type of geneprotein-coding
Descriptionoxidation resistance protein 1TBC/LysM-associated domain containing 3putative protein product of Nbla00307
Modification date20200313
UniProtAcc

C9JY63,

E5RFD1,

E5RII8,

E9PLW2,

H0YC07,

Q05CY8,

Q8N573,

Context- 32096020(Lemborexant: First Approval)

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 OXR1

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

ENSG00000164830
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
DLPFCDOWNENST00000297447.10OXR1-201:protein_coding:OXR16.873603e+01-8.324732e-011.453272e-034.298899e-02
PGDOWNENST00000519415.6OXR1-211:protein_coding:OXR12.412200e+02-1.007556e+001.927165e-032.323442e-02
CBUPENST00000531443.5OXR1-215:protein_coding:OXR12.902359e+023.351747e+003.644385e-053.147109e-04
CBUPENST00000442977.6OXR1-205:protein_coding:OXR11.395076e+011.480033e+005.662141e-032.180467e-02
TCUPENST00000438229.6OXR1-204:nonsense_mediated_decay:OXR13.757959e+001.127171e+002.129636e-042.942728e-03

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 OXR1

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_10665chr8106713823:106713985:106739458:106739583:106740343:106740495106739458:106739583
exon_skip_109702chr8106692728:106692877:106702906:106703090:106706382:106706854106702906:106703090
exon_skip_126475chr8106713823:106713985:106737520:106737600:106739458:106739478106737520:106737600
exon_skip_147953chr8106726107:106726309:106737520:106737600:106739458:106739498106737520:106737600
exon_skip_173617chr8106713823:106713985:106737520:106737600:106739458:106739498106737520:106737600
exon_skip_177495chr8106684246:106684359:106692728:106692877:106702906:106703087106692728:106692877
exon_skip_18354chr8106726107:106726309:106737520:106737600:106739458:106739583106737520:106737600
exon_skip_193199chr8106679210:106679292:106683199:106683306:106684246:106684340106683199:106683306
exon_skip_197125chr8106726107:106726309:106737520:106737600:106739458:106739478106737520:106737600
exon_skip_2317chr8106713854:106713985:106737520:106737600:106739458:106739583106737520:106737600
exon_skip_255969chr8106739458:106739583:106740343:106740495:106742222:106742317106740343:106740495
exon_skip_257747chr8106742222:106742317:106745789:106745862:106750806:106751173106745789:106745862
exon_skip_258227chr8106726185:106726257:106737520:106737600:106739458:106739583106737520:106737600
exon_skip_267222chr8106713854:106713985:106739458:106739583:106740343:106740495106739458:106739583
exon_skip_295151chr8106713823:106713985:106737520:106737600:106739458:106739583106737520:106737600
exon_skip_41562chr8106692728:106692877:106702906:106703090:106706382:106706982106702906:106703090
exon_skip_71952chr8106518943:106519139:106679210:106679292:106683199:106683306106679210:106679292
exon_skip_78472chr8106359476:106359636:106518943:106519139:106679210:106679292106518943:106519139

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_295151Mayo_CB4.968293e-016.919403e-01-1.951110e-013.093795e-08


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Open reading frame (ORF) annotation in the exon skipping event for OXR1

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
ENST00000442977106679210106679292Frame-shift
ENST00000442977106702906106703090Frame-shift
ENST00000442977106745789106745862Frame-shift
ENST00000442977106683199106683306In-frame
ENST00000442977106692728106692877In-frame
ENST00000442977106737520106737600In-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
ENST00000442977106702906106703090Frame-shift
ENST00000442977106745789106745862Frame-shift
ENST00000442977106692728106692877In-frame
ENST00000442977106737520106737600In-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
ENST00000442977106679210106679292Frame-shift
ENST00000442977106702906106703090Frame-shift
ENST00000442977106745789106745862Frame-shift
ENST00000442977106692728106692877In-frame
ENST00000442977106737520106737600In-frame
ENST00000442977106740343106740495In-frame

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Infer the effects of exon skipping event on protein functional features for OXR1

p-ENSG00000164830_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
ENST000004429772973874106683199106683306407513102138
ENST000004429772973874106692728106692877629777176226
ENST00000442977297387410673752010673760020602139653680

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
ENST000004429772973874106692728106692877629777176226
ENST00000442977297387410673752010673760020602139653680

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
ENST000004429772973874106692728106692877629777176226
ENST00000442977297387410673752010673760020602139653680
ENST00000442977297387410674034310674049522672418722773

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
Q8N5731021381631Alternative sequenceID=VSP_039004;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12880961;Dbxref=PMID:12880961
Q8N5731021381511Alternative sequenceID=VSP_039005;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N57310213823680Alternative sequenceID=VSP_043633;Note=In isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039
Q8N5731021381874ChainID=PRO_0000231645;Note=Oxidation resistance protein 1
Q8N57310213899142DomainNote=LysM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01118
Q8N573102138119119Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q4KMM3
Q8N5731762261631Alternative sequenceID=VSP_039004;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12880961;Dbxref=PMID:12880961
Q8N5731762261511Alternative sequenceID=VSP_039005;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N57317622623680Alternative sequenceID=VSP_043633;Note=In isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039
Q8N5731762261874ChainID=PRO_0000231645;Note=Oxidation resistance protein 1
Q8N573176226208275DomainNote=GRAM
Q8N573176226201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,E
Q8N573176226202202Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q8N573176226204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q8N57365368023680Alternative sequenceID=VSP_043633;Note=In isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039
Q8N573653680572874Alternative sequenceID=VSP_039011;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N573653680632653Alternative sequenceID=VSP_039012;Note=In isoform 4. KKIEESETIEDSSNQAAAREWE->MSRLWYGKKGRRHQPINHKYTL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12880961;Dbxref=PMID:12880961
Q8N573653680654722Alternative sequenceID=VSP_039014;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N573653680654680Alternative sequenceID=VSP_039013;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:17974005
Q8N5736536801874ChainID=PRO_0000231645;Note=Oxidation resistance protein 1

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
Q8N5731762261631Alternative sequenceID=VSP_039004;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12880961;Dbxref=PMID:12880961
Q8N5731762261511Alternative sequenceID=VSP_039005;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N57317622623680Alternative sequenceID=VSP_043633;Note=In isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039
Q8N5731762261874ChainID=PRO_0000231645;Note=Oxidation resistance protein 1
Q8N573176226208275DomainNote=GRAM
Q8N573176226201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,E
Q8N573176226202202Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q8N573176226204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q8N57365368023680Alternative sequenceID=VSP_043633;Note=In isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039
Q8N573653680572874Alternative sequenceID=VSP_039011;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N573653680632653Alternative sequenceID=VSP_039012;Note=In isoform 4. KKIEESETIEDSSNQAAAREWE->MSRLWYGKKGRRHQPINHKYTL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12880961;Dbxref=PMID:12880961
Q8N573653680654722Alternative sequenceID=VSP_039014;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N573653680654680Alternative sequenceID=VSP_039013;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:17974005
Q8N5736536801874ChainID=PRO_0000231645;Note=Oxidation resistance protein 1

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
Q8N5731762261631Alternative sequenceID=VSP_039004;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12880961;Dbxref=PMID:12880961
Q8N5731762261511Alternative sequenceID=VSP_039005;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N57317622623680Alternative sequenceID=VSP_043633;Note=In isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039
Q8N5731762261874ChainID=PRO_0000231645;Note=Oxidation resistance protein 1
Q8N573176226208275DomainNote=GRAM
Q8N573176226201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,E
Q8N573176226202202Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q8N573176226204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q8N57365368023680Alternative sequenceID=VSP_043633;Note=In isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.1;Dbxref=PMID:14702039
Q8N573653680572874Alternative sequenceID=VSP_039011;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N573653680632653Alternative sequenceID=VSP_039012;Note=In isoform 4. KKIEESETIEDSSNQAAAREWE->MSRLWYGKKGRRHQPINHKYTL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12880961;Dbxref=PMID:12880961
Q8N573653680654722Alternative sequenceID=VSP_039014;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N573653680654680Alternative sequenceID=VSP_039013;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:17974005
Q8N5736536801874ChainID=PRO_0000231645;Note=Oxidation resistance protein 1
Q8N573722773572874Alternative sequenceID=VSP_039011;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N573722773654722Alternative sequenceID=VSP_039014;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8N5737227731874ChainID=PRO_0000231645;Note=Oxidation resistance protein 1
Q8N573722773711847DomainNote=TLD
Q8N573722773727727Sequence conflictNote=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305


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3'-UTR located exon skipping events that lost miRNA binding sites in OXR1

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 OXR1

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 OXR1

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 OXR1

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 OXR1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTARDBPexon_skip_295151-4.837663e-014.105873e-10
CBRBM6exon_skip_295151-5.190929e-011.182137e-11
CBHNRNPA2B1exon_skip_295151-4.727613e-011.144366e-09
CBRBM6exon_skip_18354-4.341648e-016.047254e-08
CBSRSF9exon_skip_183544.349559e-015.686768e-08
CBHNRNPH2exon_skip_183544.144488e-012.662088e-07
FLILF2exon_skip_23174.153064e-011.729691e-09
FLHNRNPH2exon_skip_23175.316252e-011.514356e-15
HCCSFPQexon_skip_295151-4.601791e-011.163347e-15
HCCRBM6exon_skip_295151-5.497602e-016.961569e-23
HCCHNRNPA2B1exon_skip_295151-4.441010e-011.419763e-14
HCCHNRNPFexon_skip_295151-5.417396e-013.801506e-22
HCCSFPQexon_skip_18354-4.281618e-013.406790e-13
HCCRBM6exon_skip_18354-4.553877e-016.391192e-15
HCCHNRNPA2B1exon_skip_18354-4.213884e-018.678881e-13
HCCHNRNPFexon_skip_18354-5.040604e-012.032888e-18
PCCRBM6exon_skip_2317-4.503947e-016.932247e-12
PCCHNRNPFexon_skip_2317-5.497495e-015.546316e-18
PCCSRSF11exon_skip_2672224.143617e-017.224428e-10
PCCHNRNPFexon_skip_2672225.624890e-012.039506e-18
PCCHNRNPFexon_skip_18354-4.486023e-011.072794e-10
PGILF2exon_skip_23174.101365e-019.816513e-09
PGKHDRBS2exon_skip_23174.903765e-012.431753e-12
PGHNRNPH2exon_skip_23174.832113e-015.589875e-12
STGKHDRBS2exon_skip_23174.500173e-011.224806e-05
STGSRSF9exon_skip_23174.048878e-011.002950e-04
STGHNRNPH2exon_skip_23174.204311e-015.026784e-05
TCRBM6exon_skip_173617-4.773852e-012.955573e-10
TCILF2exon_skip_1736174.657560e-018.963700e-10
TCKHDRBS2exon_skip_1736177.434631e-011.064908e-28
TCHNRNPH2exon_skip_1736176.730722e-016.302836e-22
TCESRP1exon_skip_1736174.995354e-013.171876e-11
TCKHDRBS2exon_skip_1479534.396169e-018.391741e-09
TCHNRNPH2exon_skip_1479534.226077e-013.518230e-08

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RelatedDrugs for OXR1

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 OXR1

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