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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 PTPRZ1

check button Gene summary
Gene informationGene symbol

PTPRZ1

Gene ID

5803

Gene nameprotein tyrosine phosphatase, receptor type Z1
SynonymsHPTPZ|HPTPzeta|PTP-ZETA|PTP18|PTPRZ|PTPZ|R-PTP-zeta-2|RPTPB|RPTPbeta|phosphacan
Cytomap

7q31.32

Type of geneprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase zetaprotein tyrosine phosphatase, receptor-type, Z polypeptide 1protein tyrosine phosphatase, receptor-type, zeta polypeptide 1protein-tyrosine phosphatase receptor type Z polypeptide 2receptor-type tyrosine
Modification date20180519
UniProtAcc

P23471

ContextPubMed: PTPRZ1 [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 PTPRZ1 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 PTPRZ1

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 PTPRZ1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4708737121513592:121513611:121568209:121568275:121608004:121608184121568209:121568275ENSG00000106278.7ENST00000449182.1
exon_skip_4708797121568209:121568275:121608004:121608184:121612594:121612746121608004:121608184ENSG00000106278.7ENST00000393386.2,ENST00000449182.1
exon_skip_4708807121616838:121616905:121623718:121623876:121624020:121624171121623718:121623876ENSG00000106278.7ENST00000393386.2,ENST00000449182.1
exon_skip_4708817121637933:121638060:121644667:121644714:121650387:121651363121644667:121644714ENSG00000106278.7ENST00000393386.2,ENST00000449182.1
exon_skip_4709067121651261:121651363:121659177:121659322:121668605:121668697121659177:121659322ENSG00000106278.7ENST00000449182.1
exon_skip_4709127121671527:121671613:121674148:121674169:121674335:121674394121674148:121674169ENSG00000106278.7ENST00000393386.2
exon_skip_4709137121674335:121674432:121676653:121676736:121678808:121678943121676653:121676736ENSG00000106278.7ENST00000393386.2,ENST00000449182.1,ENST00000470504.1
exon_skip_4709147121676653:121676736:121678808:121678943:121679507:121679638121678808:121678943ENSG00000106278.7ENST00000393386.2,ENST00000449182.1,ENST00000470504.1
exon_skip_4709197121693963:121694092:121694994:121695141:121698853:121698996121694994:121695141ENSG00000106278.7ENST00000393386.2,ENST00000449182.1
exon_skip_4709207121694994:121695141:121698853:121698996:121699806:121699942121698853:121698996ENSG00000106278.7ENST00000393386.2,ENST00000449182.1

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

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Exon skipping events with PSIs in GTEx for PTPRZ1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4708737121513592:121513611:121568209:121568275:121608004:121608184121568209:121568275ENSG00000106278.7ENST00000449182.1
exon_skip_4708797121568209:121568275:121608004:121608184:121612594:121612746121608004:121608184ENSG00000106278.7ENST00000393386.2,ENST00000449182.1
exon_skip_4708807121616838:121616905:121623718:121623876:121624020:121624171121623718:121623876ENSG00000106278.7ENST00000393386.2,ENST00000449182.1
exon_skip_4709067121651261:121651363:121659177:121659322:121668605:121668697121659177:121659322ENSG00000106278.7ENST00000449182.1
exon_skip_4709127121671527:121671613:121674148:121674169:121674335:121674394121674148:121674169ENSG00000106278.7ENST00000393386.2
exon_skip_4709137121674335:121674432:121676653:121676736:121678808:121678943121676653:121676736ENSG00000106278.7ENST00000393386.2,ENST00000449182.1,ENST00000470504.1
exon_skip_4709147121676653:121676736:121678808:121678943:121679507:121679638121678808:121678943ENSG00000106278.7ENST00000393386.2,ENST00000449182.1,ENST00000470504.1
exon_skip_4709207121694994:121695141:121698853:121698996:121699806:121699942121698853:121698996ENSG00000106278.7ENST00000393386.2,ENST00000449182.1

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 PTPRZ1

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
ENST00000393386121623718121623876Frame-shift
ENST00000393386121644667121644714Frame-shift
ENST00000393386121676653121676736Frame-shift
ENST00000393386121698853121698996Frame-shift
ENST00000393386121608004121608184In-frame
ENST00000393386121674148121674169In-frame
ENST00000393386121678808121678943In-frame
ENST00000393386121694994121695141In-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
ENST00000393386121623718121623876Frame-shift
ENST00000393386121676653121676736Frame-shift
ENST00000393386121698853121698996Frame-shift
ENST00000393386121608004121608184In-frame
ENST00000393386121674148121674169In-frame
ENST00000393386121678808121678943In-frame

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Infer the effects of exon skipping event on protein functional features for PTPRZ1

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
ENST000003933868192231512160800412160818453671541101
ENST00000393386819223151216788081216789435779591317891834
ENST00000393386819223151216949941216951416793693921272176

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
ENST000003933868192231512160800412160818453671541101
ENST00000393386819223151216788081216789435779591317891834

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
P23471411014042Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411015860Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411017173Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411017884Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411019497Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P2347141101252315ChainID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta
P234714110156240Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20133774;Dbxref=PMID:20133774
P234714110136300DomainNote=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134
P23471411014648HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411014952HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411015457HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411016870HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P2347141101251636Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P234711789183417811790Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183417931800Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183418221825Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183418291831Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P2347117891834252315ChainID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta
P234711789183417171992DomainNote=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
P234711789183418051807HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183418081817HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183416632315Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P2347121272176252315ChainID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta
P234712127217620232282DomainNote=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
P234712127217616632315Topological 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
P23471411014042Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411015860Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411017173Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411017884Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411019497Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P2347141101252315ChainID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta
P234714110156240Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20133774;Dbxref=PMID:20133774
P234714110136300DomainNote=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134
P23471411014648HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411014952HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411015457HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P23471411016870HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF
P2347141101251636Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P234711789183417811790Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183417931800Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183418221825Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183418291831Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P2347117891834252315ChainID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta
P234711789183417171992DomainNote=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160
P234711789183418051807HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183418081817HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX
P234711789183416632315Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for PTPRZ1

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
COADTCGA-AM-5820-01exon_skip_470879
121608005121608184121608017121608017Frame_Shift_DelA-p.Q46fs
LIHCTCGA-G3-A3CJ-01exon_skip_470879
121608005121608184121608017121608017Frame_Shift_DelA-p.Q46fs
LIHCTCGA-DD-A3A0-01exon_skip_470879
121608005121608184121608139121608139Frame_Shift_DelA-p.K87fs
LIHCTCGA-G3-A3CJ-01exon_skip_470880
121623719121623876121623788121623788Frame_Shift_DelT-p.I230fs
STADTCGA-HU-A4G8-01exon_skip_470912
121674149121674169121674154121674157Frame_Shift_DelGAAA-p.1724_1725del
STADTCGA-HU-A4G8-01exon_skip_470912
121674149121674169121674154121674157Frame_Shift_DelGAAA-p.L1724fs
LIHCTCGA-G3-A3CJ-01exon_skip_470914
121678809121678943121678935121678935Frame_Shift_DelA-p.K1832fs
LIHCTCGA-DD-A1EG-01exon_skip_470919
121694995121695141121695101121695101Frame_Shift_DelA-p.E2163fs
LIHCTCGA-G3-A3CJ-01exon_skip_470920
121698854121698996121698876121698876Frame_Shift_DelG-p.R2184fs
LGGTCGA-CS-6670-01exon_skip_470906
121659178121659322121659248121659249Frame_Shift_Ins-Ap.T1639fs
HNSCTCGA-D6-6516-01exon_skip_470919
121694995121695141121695040121695041Frame_Shift_Ins-ATp.L2143fs
HNSCTCGA-D6-6516-01exon_skip_470919
121694995121695141121695040121695041Frame_Shift_Ins-ATp.N2143fs
HNSCTCGA-P3-A6T4-01exon_skip_470880
121623719121623876121623770121623770Nonsense_MutationCGp.S224*
CESCTCGA-DR-A0ZM-01exon_skip_470906
121659178121659322121659177121659177Splice_SiteGCe13-1
THYMTCGA-XU-A933-01exon_skip_470914
121678809121678943121678944121678944Splice_SiteGT.

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
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE121608005121608184121608017121608017Frame_Shift_DelA-p.Q46fs
SNU1_STOMACH121608005121608184121608016121608017Frame_Shift_Ins-Ap.Q46fs
LN215_CENTRAL_NERVOUS_SYSTEM121623719121623876121623809121623811In_Frame_DelCTC-p.P239del
HT115_LARGE_INTESTINE121608005121608184121608033121608033Missense_MutationGTp.K51N
DMS79_LUNG121608005121608184121608085121608085Missense_MutationGAp.D69N
NCIH1299_LUNG121608005121608184121608096121608096Missense_MutationATp.Q72H
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE121608005121608184121608130121608130Missense_MutationGAp.G84S
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE121623719121623876121623736121623736Missense_MutationGTp.D213Y
GP2D_LARGE_INTESTINE121623719121623876121623744121623744Missense_MutationCGp.F215L
GP5D_LARGE_INTESTINE121623719121623876121623744121623744Missense_MutationCGp.F215L
SNU1040_LARGE_INTESTINE121623719121623876121623853121623853Missense_MutationAGp.T252A
NCIH2126_LUNG121659178121659322121659185121659185Missense_MutationTAp.S1617R
GCIY_STOMACH121659178121659322121659205121659205Missense_MutationGAp.R1624H
SARC9371_BONE121659178121659322121659252121659252Missense_MutationCTp.P1640S
PANC1_PANCREAS121676654121676736121676677121676677Missense_MutationGAp.A1770T
KP1N_PANCREAS121676654121676736121676677121676677Missense_MutationGAp.A1770T
HEC108_ENDOMETRIUM121676654121676736121676683121676683Missense_MutationCTp.L1772F
TC106_BONE121676654121676736121676695121676695Missense_MutationGAp.D1776N
DV90_LUNG121676654121676736121676716121676716Missense_MutationAGp.I1783V
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE121678809121678943121678839121678839Missense_MutationGAp.A1800T
NCIH2172_LUNG121678809121678943121678840121678840Missense_MutationCTp.A1800V
NCIH2135_LUNG121678809121678943121678876121678876Missense_MutationGTp.W1812L
M14_SKIN121678809121678943121678890121678890Missense_MutationGAp.E1817K
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE121678809121678943121678902121678902Missense_MutationGAp.E1821K
SNU1040_LARGE_INTESTINE121678809121678943121678912121678912Missense_MutationTAp.V1824D
GP5D_LARGE_INTESTINE121678809121678943121678927121678927Missense_MutationTCp.L1829P
HEPG2_LIVER121694995121695141121695020121695020Missense_MutationCAp.P2136Q
C3A_LIVER121694995121695141121695020121695020Missense_MutationCAp.P2136Q
JHUEM7_ENDOMETRIUM121694995121695141121695040121695040Missense_MutationACp.N2143H
EFO21_OVARY121694995121695141121695064121695064Missense_MutationCGp.L2151V
PL18_PANCREAS121694995121695141121695130121695130Missense_MutationGCp.E2173Q
KYSE510_OESOPHAGUS121608005121608184121608026121608027Nonsense_MutationGGAAp.W49*
HCC2998_LARGE_INTESTINE121644668121644714121644703121644703Nonsense_MutationGTp.E426*
SKCO1_LARGE_INTESTINE121678809121678943121678902121678902Nonsense_MutationGTp.E1821*
SNU761_LIVER121568210121568275121568275121568275Splice_SiteGTp.G42*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTPRZ1

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 PTPRZ1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRZ1


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RelatedDrugs for PTPRZ1

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 PTPRZ1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
PTPRZ1C0036341Schizophrenia3PSYGENET
PTPRZ1C0032273Pneumoconiosis1CTD_human
PTPRZ1C0079487Helicobacter Infections1CTD_human