ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PTPRB

Gene summary

Gene information	Gene symbol	PTPRB
	Gene ID	5787
	Gene name	protein tyrosine phosphatase, receptor type B
	Synonyms	HPTP-BETA\|HPTPB\|PTPB\|R-PTP-BETA\|VEPTP
	Cytomap	12q15
	Type of gene	protein-coding
	Description	receptor-type tyrosine-protein phosphatase betaVE-PTPprotein tyrosine phosphatase, receptor type, beta polypeptidevascular endothelial protein tyrosine phosphatase
	Modification date	20180519
	UniProtAcc	P23467
	Context	PubMed: PTPRB [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
PTPRB	GO:0016311	dephosphorylation	19116766\|19136612

Top

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

Skipped 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.

Top

Gene isoform structures and expression levels for PTPRB

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for PTPRB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_94657	12	70915182:70915291:70918250:70918371:70925814:70925950	70918250:70918371	ENSG00000127329.10	ENST00000550358.1,ENST00000538708.1,ENST00000451516.2,ENST00000334414.6,ENST00000261266.5,ENST00000550857.1
exon_skip_94658	12	70918250:70918371:70925814:70925950:70928267:70928431	70925814:70925950	ENSG00000127329.10	ENST00000550358.1,ENST00000538708.1,ENST00000451516.2,ENST00000334414.6,ENST00000261266.5,ENST00000550857.1
exon_skip_94659	12	70929804:70929939:70931934:70932011:70932703:70932794	70931934:70932011	ENSG00000127329.10	ENST00000550358.1,ENST00000538708.1,ENST00000451516.2,ENST00000334414.6,ENST00000261266.5,ENST00000550857.1
exon_skip_94660	12	70932703:70932794:70933404:70933486:70933606:70933624	70933404:70933486	ENSG00000127329.10	ENST00000550358.1,ENST00000538708.1,ENST00000451516.2,ENST00000334414.6,ENST00000261266.5,ENST00000550857.1
exon_skip_94661	12	70933718:70933802:70934637:70934737:70938336:70938443	70934637:70934737	ENSG00000127329.10	ENST00000550358.1,ENST00000538708.1,ENST00000451516.2,ENST00000334414.6,ENST00000261266.5,ENST00000550857.1
exon_skip_94663	12	70938336:70938443:70946556:70946800:70948939:70949089	70946556:70946800	ENSG00000127329.10	ENST00000550358.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000550857.1
exon_skip_94665	12	70956623:70956887:70960214:70960484:70963454:70963718	70960214:70960484	ENSG00000127329.10	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000451516.2,ENST00000334414.6,ENST00000261266.5,ENST00000550857.1
exon_skip_94666	12	70965603:70965867:70970161:70970425:70974815:70975082	70970161:70970425	ENSG00000127329.10	ENST00000551525.1,ENST00000548122.1,ENST00000538708.1,ENST00000451516.2,ENST00000334414.6,ENST00000261266.5,ENST00000550857.1
exon_skip_94669	12	70974815:70975082:70980786:70981047:70983743:70984013	70980786:70981047	ENSG00000127329.10	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5
exon_skip_94671	12	70980786:70981047:70983743:70984013:70986061:70986325	70983743:70984013	ENSG00000127329.10	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000538174.2
exon_skip_94672	12	70983743:70984013:70986061:70986325:70988246:70988504	70986061:70986325	ENSG00000127329.10	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000538174.2

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for PTPRB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_94657	12	70915182:70915291:70918250:70918371:70925814:70925950	70918250:70918371	ENSG00000127329.10	ENST00000334414.6,ENST00000451516.2,ENST00000550358.1,ENST00000538708.1,ENST00000550857.1,ENST00000261266.5
exon_skip_94658	12	70918250:70918371:70925814:70925950:70928267:70928431	70925814:70925950	ENSG00000127329.10	ENST00000334414.6,ENST00000451516.2,ENST00000550358.1,ENST00000538708.1,ENST00000550857.1,ENST00000261266.5
exon_skip_94659	12	70929804:70929939:70931934:70932011:70932703:70932794	70931934:70932011	ENSG00000127329.10	ENST00000334414.6,ENST00000451516.2,ENST00000550358.1,ENST00000538708.1,ENST00000550857.1,ENST00000261266.5
exon_skip_94660	12	70932703:70932794:70933404:70933486:70933606:70933624	70933404:70933486	ENSG00000127329.10	ENST00000334414.6,ENST00000451516.2,ENST00000550358.1,ENST00000538708.1,ENST00000550857.1,ENST00000261266.5
exon_skip_94661	12	70933718:70933802:70934637:70934737:70938336:70938443	70934637:70934737	ENSG00000127329.10	ENST00000334414.6,ENST00000451516.2,ENST00000550358.1,ENST00000538708.1,ENST00000550857.1,ENST00000261266.5
exon_skip_94663	12	70938336:70938443:70946556:70946800:70948939:70949089	70946556:70946800	ENSG00000127329.10	ENST00000334414.6,ENST00000550358.1,ENST00000538708.1,ENST00000550857.1,ENST00000261266.5
exon_skip_94665	12	70956623:70956887:70960214:70960484:70963454:70963718	70960214:70960484	ENSG00000127329.10	ENST00000334414.6,ENST00000451516.2,ENST00000550358.1,ENST00000550857.1,ENST00000261266.5,ENST00000551525.1,ENST00000548122.1
exon_skip_94666	12	70965603:70965867:70970161:70970425:70974815:70975082	70970161:70970425	ENSG00000127329.10	ENST00000334414.6,ENST00000451516.2,ENST00000538708.1,ENST00000550857.1,ENST00000261266.5,ENST00000551525.1,ENST00000548122.1
exon_skip_94669	12	70974815:70975082:70980786:70981047:70983743:70984013	70980786:70981047	ENSG00000127329.10	ENST00000334414.6,ENST00000550358.1,ENST00000538708.1,ENST00000261266.5,ENST00000551525.1,ENST00000548122.1
exon_skip_94671	12	70980786:70981047:70983743:70984013:70986061:70986325	70983743:70984013	ENSG00000127329.10	ENST00000334414.6,ENST00000550358.1,ENST00000538708.1,ENST00000261266.5,ENST00000551525.1,ENST00000548122.1,ENST00000538174.2
exon_skip_94672	12	70983743:70984013:70986061:70986325:70988246:70988504	70986061:70986325	ENSG00000127329.10	ENST00000334414.6,ENST00000550358.1,ENST00000538708.1,ENST00000261266.5,ENST00000551525.1,ENST00000548122.1,ENST00000538174.2

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

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

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000261266	70918250	70918371	Frame-shift
ENST00000261266	70925814	70925950	Frame-shift
ENST00000261266	70931934	70932011	Frame-shift
ENST00000261266	70933404	70933486	Frame-shift
ENST00000261266	70934637	70934737	Frame-shift
ENST00000261266	70946556	70946800	Frame-shift
ENST00000261266	70960214	70960484	In-frame
ENST00000261266	70970161	70970425	In-frame
ENST00000261266	70980786	70981047	In-frame
ENST00000261266	70983743	70984013	In-frame
ENST00000261266	70986061	70986325	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000261266	70918250	70918371	Frame-shift
ENST00000261266	70925814	70925950	Frame-shift
ENST00000261266	70931934	70932011	Frame-shift
ENST00000261266	70933404	70933486	Frame-shift
ENST00000261266	70934637	70934737	Frame-shift
ENST00000261266	70946556	70946800	Frame-shift
ENST00000261266	70960214	70960484	In-frame
ENST00000261266	70970161	70970425	In-frame
ENST00000261266	70980786	70981047	In-frame
ENST00000261266	70983743	70984013	In-frame
ENST00000261266	70986061	70986325	In-frame

Top

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

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

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000261266	6127	1997	70986061	70986325	893	1156	287	375
ENST00000261266	6127	1997	70983743	70984013	1157	1426	375	465
ENST00000261266	6127	1997	70980786	70981047	1427	1687	465	552
ENST00000261266	6127	1997	70970161	70970425	1955	2218	641	729
ENST00000261266	6127	1997	70960214	70960484	3011	3280	993	1083

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000261266	6127	1997	70986061	70986325	893	1156	287	375
ENST00000261266	6127	1997	70983743	70984013	1157	1426	375	465
ENST00000261266	6127	1997	70980786	70981047	1427	1687	465	552
ENST00000261266	6127	1997	70970161	70970425	1955	2218	641	729
ENST00000261266	6127	1997	70960214	70960484	3011	3280	993	1083

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 feature	Description of feature
P23467	287	375	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	287	375	203	288	Domain	Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	287	375	291	378	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	287	375	321	321	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	287	375	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	375	465	377	466	Alternative sequence	ID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P23467	375	465	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	375	465	291	378	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	375	465	379	471	Domain	Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	375	465	414	414	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	375	465	421	421	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	375	465	395	395	Natural variant	ID=VAR_057135;Note=V->A;Dbxref=dbSNP:rs36027530
P23467	375	465	415	415	Natural variant	ID=VAR_057136;Note=D->E;Dbxref=dbSNP:rs2165627
P23467	375	465	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	465	552	377	466	Alternative sequence	ID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P23467	465	552	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	465	552	379	471	Domain	Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	465	552	467	552	Domain	Note=Fibronectin type-III 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	465	552	479	479	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	465	552	544	544	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	465	552	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	641	729	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	641	729	556	641	Domain	Note=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	641	729	642	729	Domain	Note=Fibronectin type-III 8;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	641	729	652	652	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	641	729	721	721	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	641	729	666	666	Sequence conflict	Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P23467	641	729	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	993	1083	997	1086	Alternative sequence	ID=VSP_053944;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P23467	993	1083	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	993	1083	909	1001	Domain	Note=Fibronectin type-III 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	993	1083	995	1083	Domain	Note=Fibronectin type-III 12;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	993	1083	1040	1040	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	993	1083	1032	1032	Natural variant	ID=VAR_057138;Note=T->I;Dbxref=dbSNP:rs34902691
P23467	993	1083	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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 feature	Description of feature
P23467	287	375	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	287	375	203	288	Domain	Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	287	375	291	378	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	287	375	321	321	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	287	375	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	375	465	377	466	Alternative sequence	ID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P23467	375	465	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	375	465	291	378	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	375	465	379	471	Domain	Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	375	465	414	414	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	375	465	421	421	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	375	465	395	395	Natural variant	ID=VAR_057135;Note=V->A;Dbxref=dbSNP:rs36027530
P23467	375	465	415	415	Natural variant	ID=VAR_057136;Note=D->E;Dbxref=dbSNP:rs2165627
P23467	375	465	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	465	552	377	466	Alternative sequence	ID=VSP_038521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P23467	465	552	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	465	552	379	471	Domain	Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	465	552	467	552	Domain	Note=Fibronectin type-III 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	465	552	479	479	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	465	552	544	544	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	465	552	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	641	729	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	641	729	556	641	Domain	Note=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	641	729	642	729	Domain	Note=Fibronectin type-III 8;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	641	729	652	652	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	641	729	721	721	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	641	729	666	666	Sequence conflict	Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P23467	641	729	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	993	1083	997	1086	Alternative sequence	ID=VSP_053944;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P23467	993	1083	23	1997	Chain	ID=PRO_0000025436;Note=Receptor-type tyrosine-protein phosphatase beta
P23467	993	1083	909	1001	Domain	Note=Fibronectin type-III 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	993	1083	995	1083	Domain	Note=Fibronectin type-III 12;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P23467	993	1083	1040	1040	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P23467	993	1083	1032	1032	Natural variant	ID=VAR_057138;Note=T->I;Dbxref=dbSNP:rs34902691
P23467	993	1083	23	1621	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

Top

SNVs in the skipped exons for PTPRB

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

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_94663	70946557	70946800	70946595	70946595	Frame_Shift_Del	T	-	p.K1783fs
LIHC	TCGA-DD-A1EG-01	exon_skip_94663	70946557	70946800	70946742	70946742	Frame_Shift_Del	C	-	p.R1734fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_94666	70970162	70970425	70970188	70970188	Frame_Shift_Del	T	-	p.N939fs
KIRC	TCGA-BP-5182-01	exon_skip_94666	70970162	70970425	70970258	70970258	Frame_Shift_Del	A	-	p.S916fs
LIHC	TCGA-UB-A7MB-01	exon_skip_94671	70983744	70984013	70983979	70983979	Frame_Shift_Del	A	-	p.N606fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_94672	70986062	70986325	70986204	70986204	Frame_Shift_Del	C	-	p.G546fs
LIHC	TCGA-DD-A3A0-01	exon_skip_94672	70986062	70986325	70986267	70986267	Frame_Shift_Del	T	-	p.K525fs
KIRC	TCGA-B8-4620-01	exon_skip_94661	70934638	70934737	70934671	70934672	Frame_Shift_Ins	-	C	p.V1854fs
BRCA	TCGA-AR-A24Z-01	exon_skip_94663	70946557	70946800	70946687	70946687	Nonsense_Mutation	C	A	p.E1753*
HNSC	TCGA-D6-8568-01	exon_skip_94663	70946557	70946800	70946777	70946777	Nonsense_Mutation	G	A	p.Q1723*
BLCA	TCGA-XF-A9SI-01	exon_skip_94665	70960215	70960484	70960368	70960368	Nonsense_Mutation	C	A	p.E1251*
SKCM	TCGA-BF-AAP2-01	exon_skip_94666	70970162	70970425	70970294	70970294	Nonsense_Mutation	G	A	p.Q904*
LGG	TCGA-DU-6410-01	exon_skip_94669	70980787	70981047	70980859	70980859	Nonsense_Mutation	G	A	p.R439X
LGG	TCGA-DU-6410-01	exon_skip_94669	70980787	70981047	70980859	70980859	Nonsense_Mutation	G	A	p.R747*
COAD	TCGA-AA-3510-01	exon_skip_94669	70980787	70981047	70981006	70981006	Nonsense_Mutation	C	A	p.E390X
LIHC	TCGA-WQ-A9G7-01	exon_skip_94671	70983744	70984013	70983921	70983921	Nonsense_Mutation	G	A	p.Q625X
ESCA	TCGA-R6-A8W8-01	exon_skip_94657	70918251	70918371	70918373	70918373	Splice_Site	T	C	.
ESCA	TCGA-R6-A8W8-01	exon_skip_94657	70918251	70918371	70918373	70918373	Splice_Site	T	C	e33-2
SKCM	TCGA-FS-A1ZZ-06	exon_skip_94659	70931935	70932011	70932012	70932012	Splice_Site	C	T	.
LUSC	TCGA-18-3409-01	exon_skip_94663	70946557	70946800	70946555	70946555	Splice_Site	A	G	p.R1578_splice
STAD	TCGA-F1-6177-01	exon_skip_94665	70960215	70960484	70960486	70960486	Splice_Site	T	C	p.V994_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
EN_ENDOMETRIUM	70960215	70960484	70960411	70960411	Frame_Shift_Del	T	-	p.K1018fs
NCIH1568_LUNG	70970162	70970425	70970227	70970227	Frame_Shift_Del	T	-	p.Y708fs
KYSE180_OESOPHAGUS	70918251	70918371	70918257	70918257	Missense_Mutation	G	A	p.H1989Y
ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70918251	70918371	70918305	70918305	Missense_Mutation	G	T	p.Q1973K
CALU1_LUNG	70925815	70925950	70925829	70925829	Missense_Mutation	T	C	p.M1946V
NCIH1299_LUNG	70925815	70925950	70925859	70925859	Missense_Mutation	C	A	p.V1936L
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70925815	70925950	70925898	70925898	Missense_Mutation	G	T	p.Q1923K
CAL120_BREAST	70925815	70925950	70925901	70925901	Missense_Mutation	G	C	p.Q1922E
M14_SKIN	70931935	70932011	70931969	70931969	Missense_Mutation	G	A	p.P1753L
MDAMB435S_SKIN	70931935	70932011	70931969	70931969	Missense_Mutation	G	A	p.P1753L
SKMEL5_SKIN	70931935	70932011	70931973	70931973	Missense_Mutation	C	T	p.D1752N
OC316_OVARY	70931935	70932011	70932003	70932003	Missense_Mutation	T	C	p.T1742A
OC314_OVARY	70931935	70932011	70932003	70932003	Missense_Mutation	T	C	p.T1742A
SNU1040_LARGE_INTESTINE	70933405	70933486	70933427	70933427	Missense_Mutation	T	C	p.Y1701C
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70946557	70946800	70946588	70946588	Missense_Mutation	C	T	p.D1568N
SAS_UPPER_AERODIGESTIVE_TRACT	70946557	70946800	70946595	70946595	Missense_Mutation	T	A	p.K1565N
BFTC909_KIDNEY	70946557	70946800	70946668	70946668	Missense_Mutation	G	A	p.S1541F
HEC108_ENDOMETRIUM	70946557	70946800	70946722	70946722	Missense_Mutation	A	G	p.V1523A
M980513_SKIN	70946557	70946800	70946762	70946762	Missense_Mutation	G	A	p.P1510S
OMC1_CERVIX	70946557	70946800	70946764	70946764	Missense_Mutation	A	G	p.L1509P
SW684_SOFT_TISSUE	70960215	70960484	70960395	70960395	Missense_Mutation	C	T	p.E1024K
A704_KIDNEY	70970162	70970425	70970216	70970216	Missense_Mutation	T	C	p.I712V
MCC13_SKIN	70970162	70970425	70970224	70970224	Missense_Mutation	G	A	p.T709I
YMB1E_BREAST	70970162	70970425	70970240	70970240	Missense_Mutation	G	A	p.P704S
L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70970162	70970425	70970275	70970275	Missense_Mutation	T	C	p.K692R
NCIH2009_LUNG	70970162	70970425	70970347	70970347	Missense_Mutation	G	T	p.P668H
COLO699_LUNG	70970162	70970425	70970357	70970357	Missense_Mutation	G	T	p.L665M
DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70970162	70970425	70970368	70970368	Missense_Mutation	C	T	p.S661N
SW962_VULVA	70970162	70970425	70970372	70970372	Missense_Mutation	G	A	p.L660F
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70970162	70970425	70970384	70970384	Missense_Mutation	G	A	p.R656C
SBC1_LUNG	70980787	70981047	70980844	70980844	Missense_Mutation	T	C	p.T534A
SKMEL30_SKIN	70980787	70981047	70980858	70980858	Missense_Mutation	C	T	p.R529Q
LS411N_LARGE_INTESTINE	70980787	70981047	70980940	70980940	Missense_Mutation	C	T	p.A502T
EFE184_ENDOMETRIUM	70980787	70981047	70981013	70981013	Missense_Mutation	A	C	p.H477Q
SCC9_UPPER_AERODIGESTIVE_TRACT	70980787	70981047	70981023	70981023	Missense_Mutation	C	T	p.R474H
HCC1569_BREAST	70983744	70984013	70983753	70983753	Missense_Mutation	C	A	p.G463C
NCIH211_LUNG	70983744	70984013	70983783	70983783	Missense_Mutation	C	T	p.G453R
CL34_LARGE_INTESTINE	70983744	70984013	70983825	70983825	Missense_Mutation	C	G	p.V439L
NCIH2009_LUNG	70983744	70984013	70983905	70983905	Missense_Mutation	A	G	p.L412P
HUH6_LIVER	70983744	70984013	70983947	70983947	Missense_Mutation	C	A	p.W398L
HUH6CLONE5_LIVER	70983744	70984013	70983947	70983947	Missense_Mutation	C	A	p.W398L
JHUEM7_ENDOMETRIUM	70983744	70984013	70983977	70983977	Missense_Mutation	T	G	p.N388T
DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70983744	70984013	70984011	70984011	Missense_Mutation	G	A	p.P377S
SNU81_LARGE_INTESTINE	70986062	70986325	70986133	70986133	Missense_Mutation	C	T	p.R352Q
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70986062	70986325	70986179	70986179	Missense_Mutation	C	A	p.A337S
SW1417_LARGE_INTESTINE	70986062	70986325	70986268	70986268	Missense_Mutation	T	G	p.K307T
HCT15_LARGE_INTESTINE	70931935	70932011	70932000	70932000	Nonsense_Mutation	G	A	p.R1743*
NCIH2030_LUNG	70980787	70981047	70980862	70980862	Nonsense_Mutation	C	A	p.G528*
ES7_BONE	70934638	70934737	70934736	70934736	Splice_Site	C	A	p.E1614D

Top

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

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_94671	12	70980786:70981047:70983743:70984013:70986061:70986325	70983743:70984013	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000538174.2	BRCA	rs2165627	chr12:70983895	A/C	1.73e-05
exon_skip_94671	12	70980786:70981047:70983743:70984013:70986061:70986325	70983743:70984013	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000538174.2	LGG	rs2165627	chr12:70983895	A/C	1.54e-09
exon_skip_94671	12	70980786:70981047:70983743:70984013:70986061:70986325	70983743:70984013	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000538174.2	KIRC	rs2165627	chr12:70983895	A/C	3.59e-15
exon_skip_94671	12	70980786:70981047:70983743:70984013:70986061:70986325	70983743:70984013	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000538174.2	LUAD	rs2165627	chr12:70983895	A/C	1.51e-04
exon_skip_94671	12	70980786:70981047:70983743:70984013:70986061:70986325	70983743:70984013	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000538174.2	PAAD	rs2165627	chr12:70983895	A/C	1.06e-04
exon_skip_94671	12	70980786:70981047:70983743:70984013:70986061:70986325	70983743:70984013	ENST00000551525.1,ENST00000550358.1,ENST00000548122.1,ENST00000538708.1,ENST00000334414.6,ENST00000261266.5,ENST00000538174.2	STAD	rs2165627	chr12:70983895	A/C	1.56e-10

Top

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

Top

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

Top

RelatedDrugs for PTPRB

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for PTPRB

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PTPRB	C0018923	Hemangiosarcoma	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

Home

Download

Statistics

Landscape

Help

Contact