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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 PTPRB

check button Gene summary
Gene informationGene symbol

PTPRB

Gene ID

5787

Gene nameprotein tyrosine phosphatase receptor type B
SynonymsHPTP-BETA|HPTPB|PTPB|R-PTP-BETA|VEPTP
Cytomap

12q15

Type of geneprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase betaVE-PTPprotein tyrosine phosphatase, receptor type, beta polypeptidevascular endothelial protein tyrosine phosphatase
Modification date20200327
UniProtAcc

F8VSD5,

F8VU56,

H0YHE8,

P23467,

Q6ZR19,

Q86VA4,

Context

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

GO:0016311

dephosphorylation

19116766|19136612


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Gene structures and expression levels for PTPRB

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

ENSG00000127329
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
PGUPENST00000261266.9PTPRB-201:protein_coding:PTPRB3.111941e+028.191548e-017.510042e-041.183145e-02
CBUPENST00000549400.1PTPRB-207:retained_intron:PTPRB2.209496e+001.066531e+002.449839e-031.090249e-02
TCUPENST00000261266.9PTPRB-201:protein_coding:PTPRB4.694514e+021.250297e+006.824488e-047.341434e-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 PTPRB

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_172537chr1270544557:70544663:70552777:70553020:70555160:7055530970552777:70553020
exon_skip_192022chr1270521403:70521511:70524471:70524591:70532035:7053217070524471:70524591
exon_skip_209828chr1270524471:70524591:70532035:70532170:70534488:7053465170532035:70532170
exon_skip_271609chr1270539939:70540022:70540858:70540957:70544557:7054466370540858:70540957
exon_skip_27686chr1270571824:70572087:70576382:70576645:70581036:7058130270576382:70576645
exon_skip_280225chr1270563017:70563107:70566435:70566704:70569675:7056993870566435:70566704
exon_skip_288669chr1270587007:70587267:70589964:70590233:70592282:7059254570589964:70590233
exon_skip_290876chr1270587007:70587267:70589964:70590233:70592282:7059240270589964:70590233
exon_skip_293969chr1270589964:70590233:70592282:70592545:70594467:7059472470592282:70592545
exon_skip_40019chr1270538924:70539014:70539625:70539706:70539827:7053984470539625:70539706
exon_skip_51552chr1270562844:70563107:70566435:70566704:70569675:7056993870566435:70566704
exon_skip_79634chr1270536025:70536159:70538155:70538231:70538924:7053901470538155:70538231
exon_skip_95468chr1270581036:70581302:70587007:70587267:70589964:7059023370587007:70587267

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 PTPRB

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
ENST000002612667052447170524591Frame-shift
ENST000002612667053815570538231Frame-shift
ENST000002612667053962570539706Frame-shift
ENST000002612667054085870540957Frame-shift
ENST000002612667055277770553020Frame-shift
ENST000002612667056643570566704In-frame
ENST000002612667057638270576645In-frame
ENST000002612667058700770587267In-frame
ENST000002612667058996470590233In-frame
ENST000002612667059228270592545In-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
ENST000002612667054085870540957Frame-shift
ENST000002612667056643570566704In-frame
ENST000002612667057638270576645In-frame
ENST000002612667058996470590233In-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
ENST000002612667052447170524591Frame-shift
ENST000002612667053203570532170Frame-shift
ENST000002612667053815570538231Frame-shift
ENST000002612667053962570539706Frame-shift
ENST000002612667054085870540957Frame-shift
ENST000002612667055277770553020Frame-shift
ENST000002612667056643570566704In-frame
ENST000002612667057638270576645In-frame
ENST000002612667058700770587267In-frame
ENST000002612667058996470590233In-frame
ENST000002612667059228270592545In-frame

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

p-ENSG00000127329_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
ENST000002612666127199770592282705925458931155287375
ENST0000026126661271997705899647059023311571425375465
ENST0000026126661271997705870077058726714271686465552
ENST0000026126661271997705763827057664519552217641729
ENST00000261266612719977056643570566704301132799931083

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
ENST0000026126661271997705899647059023311571425375465
ENST0000026126661271997705763827057664519552217641729
ENST00000261266612719977056643570566704301132799931083

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
ENST000002612666127199770592282705925458931155287375
ENST0000026126661271997705899647059023311571425375465
ENST0000026126661271997705870077058726714271686465552
ENST0000026126661271997705763827057664519552217641729
ENST00000261266612719977056643570566704301132799931083

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
P23467287375231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467287375203288DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467287375291378DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467287375321321GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467287375231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467375465377466Alternative sequenceID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P23467375465231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467375465291378DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467375465379471DomainNote=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467375465414414GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467375465421421GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467375465395395Natural variantID=VAR_057135;Note=V->A;Dbxref=dbSNP:rs36027530
P23467375465415415Natural variantID=VAR_057136;Note=D->E;Dbxref=dbSNP:rs2165627
P23467375465231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467465552377466Alternative sequenceID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P23467465552231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467465552379471DomainNote=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467465552467552DomainNote=Fibronectin type-III 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467465552479479GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467465552544544GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467465552231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467641729556641DomainNote=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467641729642729DomainNote=Fibronectin type-III 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467641729652652GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729721721GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729666666Sequence conflictNote=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P23467641729231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P2346799310839971086Alternative sequenceID=VSP_053944;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P234679931083231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P2346799310839091001DomainNote=Fibronectin type-III 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P2346799310839951083DomainNote=Fibronectin type-III 12;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467993108310401040GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467993108310321032Natural variantID=VAR_057138;Note=T->I;Dbxref=dbSNP:rs34902691
P234679931083231621Topological domainNote=Extracellular;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
P23467375465377466Alternative sequenceID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P23467375465231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467375465291378DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467375465379471DomainNote=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467375465414414GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467375465421421GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467375465395395Natural variantID=VAR_057135;Note=V->A;Dbxref=dbSNP:rs36027530
P23467375465415415Natural variantID=VAR_057136;Note=D->E;Dbxref=dbSNP:rs2165627
P23467375465231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467641729556641DomainNote=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467641729642729DomainNote=Fibronectin type-III 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467641729652652GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729721721GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729666666Sequence conflictNote=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P23467641729231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P2346799310839971086Alternative sequenceID=VSP_053944;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P234679931083231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P2346799310839091001DomainNote=Fibronectin type-III 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P2346799310839951083DomainNote=Fibronectin type-III 12;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467993108310401040GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467993108310321032Natural variantID=VAR_057138;Note=T->I;Dbxref=dbSNP:rs34902691
P234679931083231621Topological domainNote=Extracellular;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
P23467287375231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467287375203288DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467287375291378DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467287375321321GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467287375231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467375465377466Alternative sequenceID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P23467375465231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467375465291378DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467375465379471DomainNote=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467375465414414GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467375465421421GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467375465395395Natural variantID=VAR_057135;Note=V->A;Dbxref=dbSNP:rs36027530
P23467375465415415Natural variantID=VAR_057136;Note=D->E;Dbxref=dbSNP:rs2165627
P23467375465231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467465552377466Alternative sequenceID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P23467465552231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467465552379471DomainNote=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467465552467552DomainNote=Fibronectin type-III 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467465552479479GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467465552544544GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467465552231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467641729556641DomainNote=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467641729642729DomainNote=Fibronectin type-III 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467641729652652GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729721721GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467641729666666Sequence conflictNote=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P23467641729231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P2346799310839971086Alternative sequenceID=VSP_053944;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P234679931083231997ChainID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P2346799310839091001DomainNote=Fibronectin type-III 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P2346799310839951083DomainNote=Fibronectin type-III 12;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P23467993108310401040GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467993108310321032Natural variantID=VAR_057138;Note=T->I;Dbxref=dbSNP:rs34902691
P234679931083231621Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255


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

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 PTPRB

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 PTPRB

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 PTPRB

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
CBexon_skip_288669rs10506598chr12:706221592.631370e-043.688142e-02

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Correlation with RNA binding proteins (RBPs) for PTPRB

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTARDBPexon_skip_79634-4.356557e-011.633154e-08
CBSAMD4Aexon_skip_79634-4.913486e-019.781750e-11
CBPCBP4exon_skip_796345.596427e-014.523923e-14
CBRBM4Bexon_skip_79634-4.593763e-012.064895e-09

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RelatedDrugs for PTPRB

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 PTPRB

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