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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 PTPRM

check button Gene summary
Gene informationGene symbol

PTPRM

Gene ID

5797

Gene nameprotein tyrosine phosphatase receptor type M
SynonymsPTPRL1|R-PTP-MU|RPTPM|RPTPU|hR-PTPu
Cytomap

18p11.23

Type of geneprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase muprotein tyrosine phosphatase muprotein tyrosine phosphatase, receptor type, mu polypeptide
Modification date20200313
UniProtAcc

E7EPS8,

J3KRV2,

J3KT55,

J3QLI4,

J3QRB4,

P28827,

Q49AC9,

Context

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

GO:0006470

protein dephosphorylation

8393854|10809770

PTPRM

GO:0007156

homophilic cell adhesion via plasma membrane adhesion molecules

8393854

PTPRM

GO:0007165

signal transduction

15080886

PTPRM

GO:0031175

neuron projection development

16380380

PTPRM

GO:0031290

retinal ganglion cell axon guidance

15080886

PTPRM

GO:0042493

response to drug

18566238


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Gene structures and expression levels for PTPRM

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

ENSG00000173482
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
TCUPENST00000400053.8PTPRM-202:protein_coding:PTPRM1.421874e+028.311849e-017.632470e-034.587286e-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 PTPRM

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_191987chr188114791:8114827:8122242:8122316:8143647:81437788122242:8122316
exon_skip_206443chr188379167:8379340:8380296:8380427:8384561:83846868380296:8380427
exon_skip_244243chr188343423:8343520:8370890:8371006:8376046:83762008370890:8371006
exon_skip_260052chr188247874:8247919:8248150:8248176:8252488:82524998248150:8248176
exon_skip_274816chr188248150:8248176:8252488:8252499:8253227:82534148252488:8252499
exon_skip_69553chr188370933:8371006:8371760:8371810:8376046:83762008371760:8371810
exon_skip_99932chr188247874:8247919:8253227:8253414:8296368:82964558253227:8253414

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 PTPRM

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
ENST0000033217582532278253414Frame-shift
ENST0000033217583802968380427In-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
ENST0000033217582532278253414Frame-shift

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
ENST0000033217582532278253414Frame-shift
ENST0000033217583708908371006In-frame
ENST0000033217583802968380427In-frame

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

p-ENSG00000173482_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
ENST0000033217561121452838029683804274786491612491293

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

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
ENST0000033217561121452837089083710064054416910051044
ENST0000033217561121452838029683804274786491612491293

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
P2882712491293211452ChainID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu
P288271249129311861448DomainNote=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
P28827124912937651452Topological 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

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
P288271005104410141019Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM
P288271005104410221032Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM
P288271005104410351044Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RPM
P2882710051044211452ChainID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu
P28827100510449001154DomainNote=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
P28827100510447651452Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P2882712491293211452ChainID=PRO_0000025448;Note=Receptor-type tyrosine-protein phosphatase mu
P288271249129311861448DomainNote=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
P28827124912937651452Topological 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 PTPRM

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 PTPRM

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 PTPRM

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 PTPRM

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 PTPRM

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBKHDRBS2exon_skip_1919876.419541e-013.704339e-17
CBEIF4G2exon_skip_1919874.528675e-013.099813e-08
CBSRSF9exon_skip_1919875.087971e-012.541387e-10
CBHNRNPKexon_skip_716994.055206e-015.226494e-06
CBSRSF9exon_skip_695534.847494e-014.920863e-10
CBHNRNPH2exon_skip_695534.970398e-011.517526e-10
HCCRBM6exon_skip_191987-5.291099e-015.031055e-21
HCCTRNAU1APexon_skip_191987-4.618425e-018.912629e-16
HCCQKIexon_skip_191987-5.369791e-011.019301e-21
HCCSF1exon_skip_191987-4.275475e-011.631395e-13
HCCRBM45exon_skip_191987-4.563205e-012.146350e-15
HCCEIF4G2exon_skip_191987-4.189555e-015.502186e-13
HCCPABPC1exon_skip_191987-4.142017e-011.062362e-12
HCCSRSF5exon_skip_191987-4.960915e-012.644597e-18
HCCTIA1exon_skip_71699-4.979878e-011.879187e-18
HCCTRNAU1APexon_skip_71699-4.432587e-011.612787e-14
HCCSFPQexon_skip_69553-5.758196e-012.018919e-25
HCCRBM6exon_skip_69553-5.740846e-013.027854e-25
HCCCNOT4exon_skip_69553-4.182097e-016.104726e-13
HCCHNRNPA2B1exon_skip_69553-4.571544e-011.881473e-15
HCCHNRNPFexon_skip_69553-5.369819e-011.018705e-21
PCCRBM6exon_skip_191987-4.765595e-013.914411e-13
PCCTRNAU1APexon_skip_191987-4.952906e-013.277599e-14
PCCQKIexon_skip_191987-5.313525e-011.765733e-16
PCCPABPC1exon_skip_191987-4.878221e-018.972412e-14
PCCTRNAU1APexon_skip_71699-4.556638e-013.670473e-12
PCCRBM6exon_skip_69553-4.313833e-014.588147e-11
PCCPUM1exon_skip_695534.558839e-012.502135e-12
PCCHNRNPFexon_skip_69553-5.089971e-011.940517e-15
TCMBNL1exon_skip_1919874.292097e-015.815887e-08
TCKHDRBS2exon_skip_1919878.357041e-011.431581e-39
TCRBM45exon_skip_1919874.254667e-017.787571e-08
TCEIF4G2exon_skip_1919874.384467e-012.786718e-08
TCRBM25exon_skip_695534.187007e-017.199497e-08
TCILF2exon_skip_695534.827910e-012.614610e-10
TCPUM1exon_skip_695535.267770e-012.663975e-12
TCNUP42exon_skip_695535.626249e-013.767895e-14
TCHNRNPH2exon_skip_695536.713023e-012.188876e-21
TCESRP1exon_skip_695534.881244e-011.551422e-10

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RelatedDrugs for PTPRM

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 PTPRM

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