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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for PTPRH

check button Gene summary
Gene informationGene symbol

PTPRH

Gene ID

5794

Gene nameprotein tyrosine phosphatase, receptor type H
SynonymsR-PTP-H|SAP1
Cytomap

19q13.42

Type of geneprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase Hstomach cancer-associated protein tyrosine phosphatase 1transmembrane-type protein-tyrosine phosphatase type H
Modification date20180519
UniProtAcc

Q9HD43

ContextPubMed: PTPRH [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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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Exon skipping events across known transcript of Ensembl for PTPRH from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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

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Gene isoform structures and expression levels for PTPRH

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for PTPRH

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3224561955693383:55693519:55696869:55697030:55697229:5569735255696869:55697030ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224601955696869:55697030:55697229:55697352:55697592:5569772755697229:55697352ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224611955697229:55697352:55697592:55697727:55697831:5569790855697592:55697727ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224661955697592:55697727:55697831:55697908:55698880:5569897155697831:55697908ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224681955698880:55698971:55699445:55699536:55702868:5570291655699445:55699536ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224711955699445:55699536:55702868:55702916:55703030:5570310955702868:55702916ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224721955703030:55703109:55707889:55708156:55708484:5570878455707889:55708156ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224741955710010:55710280:55711603:55711870:55713423:5571369055711603:55711870ENSG00000080031.5ENST00000376350.3,ENST00000588559.1,ENST00000263434.5
exon_skip_3224751955711603:55711870:55713423:55713690:55715149:5571541655713423:55713690ENSG00000080031.5ENST00000376350.3,ENST00000588559.1
exon_skip_3224761955713423:55713690:55715149:55715416:55716693:5571696055715149:55715416ENSG00000080031.5ENST00000376350.3,ENST00000588559.1
exon_skip_3224801955715359:55715416:55716693:55716960:55718056:5571832355716693:55716960ENSG00000080031.5ENST00000376350.3,ENST00000588559.1,ENST00000586852.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for PTPRH

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3224561955693383:55693519:55696869:55697030:55697229:5569735255696869:55697030ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224611955697229:55697352:55697592:55697727:55697831:5569790855697592:55697727ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224661955697592:55697727:55697831:55697908:55698880:5569897155697831:55697908ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224681955698880:55698971:55699445:55699536:55702868:5570291655699445:55699536ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224711955699445:55699536:55702868:55702916:55703030:5570310955702868:55702916ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224721955703030:55703109:55707889:55708156:55708484:5570878455707889:55708156ENSG00000080031.5ENST00000376350.3,ENST00000263434.5
exon_skip_3224741955710010:55710280:55711603:55711870:55713423:5571369055711603:55711870ENSG00000080031.5ENST00000376350.3,ENST00000263434.5,ENST00000588559.1
exon_skip_3224751955711603:55711870:55713423:55713690:55715149:5571541655713423:55713690ENSG00000080031.5ENST00000376350.3,ENST00000588559.1
exon_skip_3224761955713423:55713690:55715149:55715416:55716693:5571696055715149:55715416ENSG00000080031.5ENST00000376350.3,ENST00000588559.1
exon_skip_3224801955715359:55715416:55716693:55716960:55718056:5571832355716693:55716960ENSG00000080031.5ENST00000376350.3,ENST00000588559.1,ENST00000586852.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003763505569686955697030Frame-shift
ENST000003763505569783155697908Frame-shift
ENST000003763505569944555699536Frame-shift
ENST000003763505569722955697352In-frame
ENST000003763505569759255697727In-frame
ENST000003763505570286855702916In-frame
ENST000003763505570788955708156In-frame
ENST000003763505571160355711870In-frame
ENST000003763505571342355713690In-frame
ENST000003763505571514955715416In-frame
ENST000003763505571669355716960In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003763505569686955697030Frame-shift
ENST000003763505569783155697908Frame-shift
ENST000003763505569944555699536Frame-shift
ENST000003763505569759255697727In-frame
ENST000003763505570286855702916In-frame
ENST000003763505570788955708156In-frame
ENST000003763505571160355711870In-frame
ENST000003763505571342355713690In-frame
ENST000003763505571514955715416In-frame
ENST000003763505571669355716960In-frame

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

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000376350389411155571669355716960376642117206
ENST00000376350389411155571669355716960376642117206
ENST00000376350389411155571669355716960376642117206
ENST00000376350389411155571514955715416643909206295
ENST00000376350389411155571514955715416643909206295
ENST00000376350389411155571514955715416643909206295
ENST000003763503894111555713423557136909101176295384
ENST000003763503894111555713423557136909101176295384
ENST0000037635038941115557116035571187011771443384473
ENST0000037635038941115557078895570815620142280663752
ENST0000037635038941115557028685570291623602407779794
ENST0000037635038941115556975925569772726672801881926
ENST0000037635038941115556972295569735228022924926967

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000376350389411155571669355716960376642117206
ENST00000376350389411155571669355716960376642117206
ENST00000376350389411155571669355716960376642117206
ENST00000376350389411155571514955715416643909206295
ENST00000376350389411155571514955715416643909206295
ENST00000376350389411155571514955715416643909206295
ENST000003763503894111555713423557136909101176295384
ENST000003763503894111555713423557136909101176295384
ENST0000037635038941115557116035571187011771443384473
ENST0000037635038941115557078895570815620142280663752
ENST0000037635038941115557028685570291623602407779794
ENST0000037635038941115556975925569772726672801881926

check button Lost protein functional features of individual exon skipping events in TCGA.
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
Q9HD4311720684261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD4311720684261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD4311720684261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD43117206126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43117206126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43117206126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43117206281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43117206281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43117206281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD4311720632121DomainNote=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD4311720632121DomainNote=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD4311720632121DomainNote=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43117206122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43117206122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43117206122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43117206172172GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43117206172172GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43117206172172GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4311720628754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4311720628754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4311720628754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4320629584261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD4320629584261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD4320629584261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD43206295126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43206295281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43206295281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43206295122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295256256GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295256256GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295256256GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295285285GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295285285GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295285285GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295232232Natural variantID=VAR_061762;Note=D->N;Dbxref=dbSNP:rs55870162
Q9HD43206295232232Natural variantID=VAR_061762;Note=D->N;Dbxref=dbSNP:rs55870162
Q9HD43206295232232Natural variantID=VAR_061762;Note=D->N;Dbxref=dbSNP:rs55870162
Q9HD43206295243243Natural variantID=VAR_061763;Note=V->I;Dbxref=dbSNP:rs45535035
Q9HD43206295243243Natural variantID=VAR_061763;Note=V->I;Dbxref=dbSNP:rs45535035
Q9HD43206295243243Natural variantID=VAR_061763;Note=V->I;Dbxref=dbSNP:rs45535035
Q9HD43206295294294Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295294294Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295294294Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD4320629528754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4320629528754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4320629528754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43295384126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43295384126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43295384281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43295384281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43295384210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43295384210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43295384300387DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43295384300387DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43295384350350GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43295384350350GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43295384348348Natural variantID=VAR_038918;Note=H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2288515,PMID:15489334
Q9HD43295384348348Natural variantID=VAR_038918;Note=H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2288515,PMID:15489334
Q9HD4329538428754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4329538428754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43384473281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43384473300387DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43384473388477DomainNote=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43384473434434GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43384473468468GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43384473422422Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD4338447328754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43663752281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43663752564666DomainNote=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43663752665749DomainNote=Fibronectin type-III 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD4366375228754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43779794281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43779794781781Natural variantID=VAR_038920;Note=K->N;Dbxref=dbSNP:rs2288523
Q9HD437797947761115Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43881926281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD438819268201079DomainNote=Tyrosine-protein phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
Q9HD438819267761115Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43926967281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD439269678201079DomainNote=Tyrosine-protein phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
Q9HD43926967951951Sequence conflictNote=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD439269677761115Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


check button Lost protein functional features of individual exon skipping events in GTEx.
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
Q9HD4311720684261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD4311720684261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD4311720684261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD43117206126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43117206126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43117206126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43117206281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43117206281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43117206281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD4311720632121DomainNote=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD4311720632121DomainNote=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD4311720632121DomainNote=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43117206122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43117206122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43117206122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43117206172172GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43117206172172GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43117206172172GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4311720628754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4311720628754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4311720628754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4320629584261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD4320629584261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD4320629584261Alternative sequenceID=VSP_031318;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9HD43206295126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43206295281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43206295281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43206295122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295122209DomainNote=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43206295256256GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295256256GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295256256GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295285285GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295285285GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295285285GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43206295232232Natural variantID=VAR_061762;Note=D->N;Dbxref=dbSNP:rs55870162
Q9HD43206295232232Natural variantID=VAR_061762;Note=D->N;Dbxref=dbSNP:rs55870162
Q9HD43206295232232Natural variantID=VAR_061762;Note=D->N;Dbxref=dbSNP:rs55870162
Q9HD43206295243243Natural variantID=VAR_061763;Note=V->I;Dbxref=dbSNP:rs45535035
Q9HD43206295243243Natural variantID=VAR_061763;Note=V->I;Dbxref=dbSNP:rs45535035
Q9HD43206295243243Natural variantID=VAR_061763;Note=V->I;Dbxref=dbSNP:rs45535035
Q9HD43206295294294Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295294294Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43206295294294Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD4320629528754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4320629528754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4320629528754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43295384126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43295384126303Alternative sequenceID=VSP_054222;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD43295384281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43295384281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43295384210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43295384210299DomainNote=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43295384300387DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43295384300387DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43295384350350GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43295384350350GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43295384348348Natural variantID=VAR_038918;Note=H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2288515,PMID:15489334
Q9HD43295384348348Natural variantID=VAR_038918;Note=H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2288515,PMID:15489334
Q9HD4329538428754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD4329538428754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43384473281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43384473300387DomainNote=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43384473388477DomainNote=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43384473434434GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43384473468468GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43384473422422Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9HD4338447328754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43663752281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43663752564666DomainNote=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD43663752665749DomainNote=Fibronectin type-III 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
Q9HD4366375228754Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43779794281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD43779794781781Natural variantID=VAR_038920;Note=K->N;Dbxref=dbSNP:rs2288523
Q9HD437797947761115Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HD43881926281115ChainID=PRO_0000318950;Note=Receptor-type tyrosine-protein phosphatase H
Q9HD438819268201079DomainNote=Tyrosine-protein phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
Q9HD438819267761115Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for PTPRH

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_322461
55697593556977275569768555697685Frame_Shift_DelG-p.L896fs
LIHCTCGA-DD-A39Y-01exon_skip_322468
55699446556995365569951955699519Frame_Shift_DelG-p.P801fs
LIHCTCGA-DD-A3A0-01exon_skip_322468
55699446556995365569952655699526Frame_Shift_DelC-p.D799fs
LIHCTCGA-G3-A3CJ-01exon_skip_322474
55711604557118705571164555711645Frame_Shift_DelT-p.N460fs
LIHCTCGA-DD-A1EG-01exon_skip_322474
55711604557118705571185255711852Frame_Shift_DelT-p.N391fs
LIHCTCGA-DD-A39Y-01exon_skip_322475
55713424557136905571347055713470Frame_Shift_DelC-p.G369fs
LIHCTCGA-G3-A3CJ-01exon_skip_322476
55715150557154165571518255715182Frame_Shift_DelT-p.N285fs
LIHCTCGA-DD-A39Y-01exon_skip_322476
55715150557154165571526955715269Frame_Shift_DelT-p.N256fs
LIHCTCGA-DD-A1EG-01exon_skip_322476
55715150557154165571534355715343Frame_Shift_DelG-p.P231fs
STADTCGA-HU-A4GN-01exon_skip_322480
55716694557169605571688755716887Frame_Shift_DelG-p.D143fs
BLCATCGA-ZF-A9RC-01exon_skip_322475
55713424557136905571343955713439Nonsense_MutationGAp.R380*
LUADTCGA-55-8203-01exon_skip_322476
55715150557154165571518955715189Nonsense_MutationCAp.G283*
BRCATCGA-BH-A0HP-01exon_skip_322476
55715150557154165571530655715306Nonsense_MutationGAp.Q244*
LUADTCGA-55-7728-01exon_skip_322466
55697832556979085569783155697831Splice_SiteCAp.P881_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COLO684_ENDOMETRIUM55711604557118705571186655711866Frame_Shift_DelG-p.P386fs
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE55696870556970305569689555696895Missense_MutationCTp.G1013R
SNU738_CENTRAL_NERVOUS_SYSTEM55696870556970305569691755696917Missense_MutationCAp.Q1005H
HEC108_ENDOMETRIUM55696870556970305569692255696922Missense_MutationGAp.R1004W
SNU1066_UPPER_AERODIGESTIVE_TRACT55696870556970305569699155696991Missense_MutationAGp.Y981H
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE55697593556977275569763555697635Missense_MutationGCp.S912R
NCIH2228_LUNG55697593556977275569771155697711Missense_MutationTGp.Q887P
LN382_CENTRAL_NERVOUS_SYSTEM55697832556979085569789755697897Missense_MutationGAp.R860W
HEC251_ENDOMETRIUM55707890557081565570789955707899Missense_MutationCTp.E750K
HCC2450_LUNG55707890557081565570801855708018Missense_MutationGTp.S710Y
HEC251_ENDOMETRIUM55707890557081565570803355708033Missense_MutationCTp.G705D
IGROV1_OVARY55707890557081565570807055708070Missense_MutationAGp.Y693H
A375_SKIN55707890557081565570811255708112Missense_MutationCTp.G679S
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE55707890557081565570812755708127Missense_MutationCTp.V674I
SNU719_STOMACH55707890557081565570812755708127Missense_MutationCTp.V674I
HEC1A_ENDOMETRIUM55707890557081565570812755708127Missense_MutationCTp.V674I
HEC1_ENDOMETRIUM55707890557081565570812755708127Missense_MutationCTp.V674I
HEC1B_ENDOMETRIUM55707890557081565570812755708127Missense_MutationCTp.V674I
LU135_LUNG55707890557081565570813055708130Missense_MutationAGp.C673R
LU165_LUNG55707890557081565570814955708149Missense_MutationGTp.D666E
KNS62_LUNG55711604557118705571163655711636Missense_MutationCTp.R463H
HCC1954_BREAST55711604557118705571177755711777Missense_MutationTCp.D416G
HCC1954_MATCHED_NORMAL_TISSUE55711604557118705571177755711777Missense_MutationTCp.D416G
NCIH513_PLEURA55711604557118705571183555711835Missense_MutationGCp.Q397E
J82_MATCHED_NORMAL_TISSUE55711604557118705571186755711867Missense_MutationGTp.P386H
NB1_AUTONOMIC_GANGLIA55713424557136905571347255713472Missense_MutationCAp.G369W
CORL88_LUNG55713424557136905571363755713637Missense_MutationCTp.A314T
NCIH2804_PLEURA55715150557154165571516555715165Missense_MutationCGp.V291L
MG63_BONE55715150557154165571517355715173Missense_MutationAGp.V288A
BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE55715150557154165571518655715186Missense_MutationCTp.V284I
JHUEM7_ENDOMETRIUM55715150557154165571519255715192Missense_MutationCAp.D282Y
HCE4_OESOPHAGUS55715150557154165571528455715284Missense_MutationCGp.R251T
NCIH3255_LUNG55715150557154165571530255715302Missense_MutationCAp.C245F
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE55715150557154165571534455715344Missense_MutationGAp.P231L
SARC9371_BONE55715150557154165571536855715368Missense_MutationGAp.S223F
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE55715150557154165571538455715384Missense_MutationCAp.A218S
HCC1806_BREAST55715150557154165571538755715387Missense_MutationCGp.E217Q
GIMEN_AUTONOMIC_GANGLIA55715150557154165571540055715400Missense_MutationCAp.R212S
M14_SKIN55716694557169605571671555716715Missense_MutationCTp.E200K
MDAMB435S_SKIN55716694557169605571671555716715Missense_MutationCTp.E200K
SUM149PT_BREAST55716694557169605571671855716718Missense_MutationGAp.R199W
BICR56_UPPER_AERODIGESTIVE_TRACT55716694557169605571671855716718Missense_MutationGCp.R199G
OVCA433_OVARY55716694557169605571671855716718Missense_MutationGAp.R199W
NCIH1155_LUNG55716694557169605571674955716749Missense_MutationCTp.M188I
MDST8_LARGE_INTESTINE55716694557169605571675355716753Missense_MutationGAp.S187F
IGROV1_OVARY55716694557169605571688355716883Missense_MutationCTp.G144S
SNU1040_LARGE_INTESTINE55716694557169605571692155716921Missense_MutationGAp.T131I
SNU620_STOMACH55697230556973525569735255697352Splice_SiteCGp.V927L
CAOV3_OVARY55713424557136905571368955713689Splice_SiteAGp.A296A

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRH


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRH


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RelatedDrugs for PTPRH

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

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RelatedDiseases for PTPRH

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