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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 TJP1

check button Gene summary
Gene informationGene symbol

TJP1

Gene ID

7082

Gene nametight junction protein 1
SynonymsZO-1
Cytomap

15q13.1

Type of geneprotein-coding
Descriptiontight junction protein ZO-1zona occludens 1zonula occludens 1 protein
Modification date20180522
UniProtAcc

Q07157

ContextPubMed: TJP1 [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 TJP1 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 TJP1

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 TJP1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1256681529993798:29993893:29996365:29996509:29997731:2999794929996365:29996509ENSG00000104067.12ENST00000400011.2,ENST00000356107.6
exon_skip_1256691529993798:29993893:29996404:29996509:29997731:2999794929996404:29996509ENSG00000104067.12ENST00000400007.4
exon_skip_1256701529993798:29993893:29996425:29996509:29997731:2999794929996425:29996509ENSG00000104067.12ENST00000545208.2,ENST00000346128.6
exon_skip_1256741529997731:29997949:30000762:30001240:30003034:3000320430000762:30001240ENSG00000104067.12ENST00000545208.2,ENST00000400011.2,ENST00000356107.6,ENST00000346128.6
exon_skip_1256791530011096:30011342:30011980:30012220:30012561:3001291230011980:30012220ENSG00000104067.12ENST00000356107.6,ENST00000346128.6
exon_skip_1256811530011096:30011342:30012561:30012912:30018582:3001868330012561:30012912ENSG00000104067.12ENST00000545208.2,ENST00000400011.2
exon_skip_1256831530018984:30019195:30020140:30020223:30024636:3002473230020140:30020223ENSG00000104067.12ENST00000545208.2,ENST00000400011.2,ENST00000356107.6,ENST00000346128.6
exon_skip_1256841530020140:30020223:30024636:30024732:30024834:3002501930024636:30024732ENSG00000104067.12ENST00000545208.2,ENST00000400011.2,ENST00000356107.6,ENST00000346128.6
exon_skip_1256851530024834:30025019:30025297:30025517:30026477:3002658630025297:30025517ENSG00000104067.12ENST00000545208.2,ENST00000400011.2,ENST00000356107.6,ENST00000346128.6
exon_skip_1256871530034845:30034985:30053341:30053489:30053803:3005397230053341:30053489ENSG00000104067.12ENST00000545208.2,ENST00000400011.2,ENST00000356107.6,ENST00000346128.6
exon_skip_1256931530053341:30053489:30053803:30053972:30054537:3005464130053803:30053972ENSG00000104067.12ENST00000495972.2,ENST00000545208.2,ENST00000400011.2,ENST00000356107.6,ENST00000346128.6
exon_skip_1256971530053803:30053972:30054537:30054641:30058468:3005874530054537:30054641ENSG00000104067.12ENST00000495972.2,ENST00000545208.2,ENST00000400011.2,ENST00000356107.6,ENST00000346128.6
exon_skip_1256981530065435:30065560:30092848:30092905:30114204:3011423130092848:30092905ENSG00000104067.12ENST00000495972.2,ENST00000545208.2,ENST00000356107.6
exon_skip_1256991530092848:30092905:30112729:30112877:30113618:3011375130112729:30112877ENSG00000104067.12ENST00000400011.2

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

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Exon skipping events with PSIs in GTEx for TJP1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1256681529993798:29993893:29996365:29996509:29997731:2999794929996365:29996509ENSG00000104067.12ENST00000400011.2,ENST00000356107.6
exon_skip_1256691529993798:29993893:29996404:29996509:29997731:2999794929996404:29996509ENSG00000104067.12ENST00000400007.4
exon_skip_1256701529993798:29993893:29996425:29996509:29997731:2999794929996425:29996509ENSG00000104067.12ENST00000346128.6,ENST00000545208.2
exon_skip_1256741529997731:29997949:30000762:30001240:30003034:3000320430000762:30001240ENSG00000104067.12ENST00000346128.6,ENST00000400011.2,ENST00000356107.6,ENST00000545208.2
exon_skip_1256791530011096:30011342:30011980:30012220:30012561:3001291230011980:30012220ENSG00000104067.12ENST00000346128.6,ENST00000356107.6
exon_skip_1256811530011096:30011342:30012561:30012912:30018582:3001868330012561:30012912ENSG00000104067.12ENST00000400011.2,ENST00000545208.2
exon_skip_1256831530018984:30019195:30020140:30020223:30024636:3002473230020140:30020223ENSG00000104067.12ENST00000346128.6,ENST00000400011.2,ENST00000356107.6,ENST00000545208.2
exon_skip_1256841530020140:30020223:30024636:30024732:30024834:3002501930024636:30024732ENSG00000104067.12ENST00000346128.6,ENST00000400011.2,ENST00000356107.6,ENST00000545208.2
exon_skip_1256851530024834:30025019:30025297:30025517:30026477:3002658630025297:30025517ENSG00000104067.12ENST00000346128.6,ENST00000400011.2,ENST00000356107.6,ENST00000545208.2
exon_skip_1256871530034845:30034985:30053341:30053489:30053803:3005397230053341:30053489ENSG00000104067.12ENST00000346128.6,ENST00000400011.2,ENST00000356107.6,ENST00000545208.2
exon_skip_1256931530053341:30053489:30053803:30053972:30054537:3005464130053803:30053972ENSG00000104067.12ENST00000346128.6,ENST00000400011.2,ENST00000356107.6,ENST00000545208.2,ENST00000495972.2
exon_skip_1256971530053803:30053972:30054537:30054641:30058468:3005874530054537:30054641ENSG00000104067.12ENST00000346128.6,ENST00000400011.2,ENST00000356107.6,ENST00000545208.2,ENST00000495972.2
exon_skip_1256981530065435:30065560:30092848:30092905:30114204:3011423130092848:30092905ENSG00000104067.12ENST00000356107.6,ENST00000545208.2,ENST00000495972.2
exon_skip_1256991530092848:30092905:30112729:30112877:30113618:3011375130112729:30112877ENSG00000104067.12ENST00000400011.2

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 TJP1

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
ENST000003461283000076230001240Frame-shift
ENST000003461283002014030020223Frame-shift
ENST000003461283002529730025517Frame-shift
ENST000003461283005334130053489Frame-shift
ENST000003461283005380330053972Frame-shift
ENST000003461283005453730054641Frame-shift
ENST000003461282999642529996509In-frame
ENST000003461283001198030012220In-frame
ENST000003461283002463630024732In-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
ENST000003461283000076230001240Frame-shift
ENST000003461283002014030020223Frame-shift
ENST000003461283002529730025517Frame-shift
ENST000003461283005334130053489Frame-shift
ENST000003461283005380330053972Frame-shift
ENST000003461283005453730054641Frame-shift
ENST000003461282999642529996509In-frame
ENST000003461283001198030012220In-frame
ENST000003461283002463630024732In-frame

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Infer the effects of exon skipping event on protein functional features for TJP1

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
ENST0000034612879671748300246363002473223972492640672
ENST00000346128796717483001198030012220323934789211001
ENST000003461287967174829996425299965095544562716891717

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
ENST0000034612879671748300246363002473223972492640672
ENST00000346128796717483001198030012220323934789211001
ENST000003461287967174829996425299965095544562716891717

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
Q07157640672632640Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q07157640672647651Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q07157640672669671Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q0715764067211748ChainID=PRO_0000094540;Note=Tight junction protein ZO-1
Q07157640672598779DomainNote=Guanylate kinase-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00100
Q07157640672654664HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q07157640672633876RegionNote=Occludin (OCLN)-binding region;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9792688;Dbxref=PMID:9792688
Q07157640672666668TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q0715792110019221001Alternative sequenceID=VSP_003148;Note=In isoform Short. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q07157921100111748ChainID=PRO_0000094540;Note=Tight junction protein ZO-1
Q071579211001968968Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163,PMID
Q071579211001930930Natural variantID=VAR_025155;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs45529137
Q071571689171717011703Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXR
Q071571689171717061715Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXR
Q071571689171711748ChainID=PRO_0000094540;Note=Tight junction protein ZO-1
Q071571689171716341748DomainNote=ZU5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00485
Q071571689171716991700MutagenesisNote=Abolishes interaction with CDC42BPB. MC->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21240187;Dbxref=PMID:21240187
Q071571689171716871689TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXR


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
Q07157640672632640Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q07157640672647651Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q07157640672669671Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q0715764067211748ChainID=PRO_0000094540;Note=Tight junction protein ZO-1
Q07157640672598779DomainNote=Guanylate kinase-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00100
Q07157640672654664HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q07157640672633876RegionNote=Occludin (OCLN)-binding region;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9792688;Dbxref=PMID:9792688
Q07157640672666668TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TSZ
Q0715792110019221001Alternative sequenceID=VSP_003148;Note=In isoform Short. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q07157921100111748ChainID=PRO_0000094540;Note=Tight junction protein ZO-1
Q071579211001968968Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163,PMID
Q071579211001930930Natural variantID=VAR_025155;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs45529137
Q071571689171717011703Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXR
Q071571689171717061715Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXR
Q071571689171711748ChainID=PRO_0000094540;Note=Tight junction protein ZO-1
Q071571689171716341748DomainNote=ZU5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00485
Q071571689171716991700MutagenesisNote=Abolishes interaction with CDC42BPB. MC->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21240187;Dbxref=PMID:21240187
Q071571689171716871689TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KXR


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SNVs in the skipped exons for TJP1

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.
TJP1_ESCA_exon_skip_125679_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_125674
30000763300012403000084730000847Frame_Shift_DelC-p.G1589fs
LIHCTCGA-DD-A39Y-01exon_skip_125674
30000763300012403000091430000914Frame_Shift_DelT-p.T1567fs
LUSCTCGA-33-4583-01exon_skip_125674
30000763300012403000093730000937Frame_Shift_DelT-p.H1559fs
LIHCTCGA-T1-A6J8-01exon_skip_125674
30000763300012403000099630000997Frame_Shift_DelAA-p.1539_1540del
LIHCTCGA-T1-A6J8-01exon_skip_125674
30000763300012403000099630000997Frame_Shift_DelAA-p.F1539fs
ESCATCGA-LN-A49S-01exon_skip_125679
30011981300122203001210230012102Frame_Shift_DelG-p.P961fs
LIHCTCGA-G3-A3CJ-01exon_skip_125681
30012562300129123001270630012706Frame_Shift_DelG-p.A873fs
LIHCTCGA-DD-A39Y-01exon_skip_125681
30012562300129123001289730012897Frame_Shift_DelT-p.S810fs
STADTCGA-F1-A448-01exon_skip_125684
30024637300247323002470430024704Frame_Shift_DelA-p.G651fs
UCECTCGA-D1-A163-01exon_skip_125685
30025298300255173002534030025340Frame_Shift_DelT-p.N565fs
GBMTCGA-14-1450-01exon_skip_125679
30011981300122203001219130012192Frame_Shift_Ins-Tp.Y931fs
BRCATCGA-A8-A06T-01exon_skip_125681
30012562300129123001280130012802Frame_Shift_Ins-AAp.D841fs
LUADTCGA-55-8616-01exon_skip_125674
30000763300012403000094730000947Nonsense_MutationCAp.E1556*
LGGTCGA-DU-8163-01exon_skip_125674
30000763300012403000100430001004Nonsense_MutationGAp.R1457X
LGGTCGA-DU-8163-01exon_skip_125674
30000763300012403000100430001004Nonsense_MutationGAp.R1537*
SKCMTCGA-W3-AA1R-06exon_skip_125674
30000763300012403000101730001017Nonsense_MutationATp.Y1532*
STADTCGA-F1-6177-01exon_skip_125674
30000763300012403000114530001145Nonsense_MutationGAp.R1490*
STADTCGA-F1-6177-01exon_skip_125674
30000763300012403000114530001145Nonsense_MutationGAp.R1490X
PAADTCGA-2J-AAB8-01exon_skip_125683
30020141300202233002021230020212Nonsense_MutationGAp.R677*
BRCATCGA-BH-A204-01exon_skip_125684
30024637300247323002467930024679Nonsense_MutationCAp.E659*
HNSCTCGA-D6-A6EK-01exon_skip_125685
30025298300255173002536430025364Nonsense_MutationCTp.W557*
GBMTCGA-28-2509-01exon_skip_125687
30053342300534893005340030053400Nonsense_MutationGAp.Q318*
UCECTCGA-BS-A0UV-01exon_skip_125697
30054538300546413005455830054558Nonsense_MutationCAp.E225*
STADTCGA-BR-8078-01exon_skip_125684
30024637300247323002473330024733Splice_SiteCT.
STADTCGA-BR-8078-01exon_skip_125684
30024637300247323002473330024733Splice_SiteCTp.A641_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TJP1_30011096_30011342_30011980_30012220_30012561_30012912_TCGA-LN-A49S-01Sample: TCGA-LN-A49S-01
Cancer type: ESCA
ESID: exon_skip_125679
Skipped exon start: 30011981
Skipped exon end: 30012220
Mutation start: 30012102
Mutation end: 30012102
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P961fs
exon_skip_125679_ESCA_TCGA-LN-A49S-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SLR25_KIDNEY30053804300539723005394130053951Frame_Shift_DelAATGACATATT-p.NMSL239fs
SNU175_LARGE_INTESTINE29996405299965092999646429996464Missense_MutationAGp.L1705P
SNU175_LARGE_INTESTINE29996366299965092999646429996464Missense_MutationAGp.L1705P
SNU175_LARGE_INTESTINE29996426299965092999646429996464Missense_MutationAGp.L1705P
MCC13_SKIN29996405299965092999648629996486Missense_MutationCTp.V1698M
MCC13_SKIN29996366299965092999648629996486Missense_MutationCTp.V1698M
MCC13_SKIN29996426299965092999648629996486Missense_MutationCTp.V1698M
NCIH1048_LUNG29996405299965092999649129996491Missense_MutationGTp.P1696H
NCIH1048_LUNG29996366299965092999649129996491Missense_MutationGTp.P1696H
NCIH1048_LUNG29996426299965092999649129996491Missense_MutationGTp.P1696H
HCT15_LARGE_INTESTINE30000763300012403000092230000922Missense_MutationGAp.S1564F
SW620_LARGE_INTESTINE30000763300012403000100330001003Missense_MutationCTp.R1537Q
G401_SOFT_TISSUE30000763300012403000113330001133Missense_MutationCAp.A1494S
SNU81_LARGE_INTESTINE30011981300122203001206630012066Missense_MutationGTp.S973Y
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30011981300122203001217430012174Missense_MutationTGp.N937T
C33A_CERVIX30011981300122203001218630012186Missense_MutationGAp.S933L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30012562300129123001258230012582Missense_MutationAGp.F915L
BICR18_UPPER_AERODIGESTIVE_TRACT30012562300129123001258230012582Missense_MutationAGp.F915L
SW626_OVARY30012562300129123001259030012590Missense_MutationGAp.S912F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30012562300129123001260930012609Missense_MutationGCp.P906A
BICR18_UPPER_AERODIGESTIVE_TRACT30012562300129123001260930012609Missense_MutationGCp.P906A
AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30012562300129123001269930012699Missense_MutationGAp.R876W
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30012562300129123001280630012806Missense_MutationGTp.T840N
PEO1_OVARY30020141300202233002015130020151Missense_MutationAGp.I697T
PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30020141300202233002019030020190Missense_MutationCTp.R684H
BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30020141300202233002019030020190Missense_MutationCTp.R684H
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30020141300202233002019030020190Missense_MutationCTp.R684H
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30020141300202233002020630020206Missense_MutationCTp.A679T
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30024637300247323002469930024699Missense_MutationGAp.P652L
MCC13_SKIN30025298300255173002533230025333Missense_MutationCCTTp.E568K
MCC13_SKIN30025298300255173002533230025332Missense_MutationCTp.E568K
CORL24_LUNG30025298300255173002541230025412Missense_MutationTAp.E541V
SW756_CERVIX30025298300255173002541930025419Missense_MutationTCp.K539E
HEC59_ENDOMETRIUM30025298300255173002543730025437Missense_MutationAGp.Y533H
HEC6_ENDOMETRIUM30025298300255173002547630025476Missense_MutationAGp.Y520H
SKUT1_SOFT_TISSUE30053342300534893005339430053394Missense_MutationAGp.S320P
ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30053342300534893005342430053424Missense_MutationGAp.R310C
SNU626_CENTRAL_NERVOUS_SYSTEM30053342300534893005347430053474Missense_MutationTGp.Q293P
YAMATO_SOFT_TISSUE30053804300539723005382130053821Missense_MutationTCp.N282S
EW13_BONE30053804300539723005384930053849Missense_MutationCGp.D273H
SCMCRM2_SOFT_TISSUE30053804300539723005387330053873Missense_MutationGAp.R265W
LOVO_LARGE_INTESTINE30092849300929053009285930092859Missense_MutationGAp.T25M
HKA1_SKIN30092849300929053009289930092899Missense_MutationCTp.A12T
NCIH820_LUNG30011981300122203001207630012076Nonsense_MutationGAp.Q970*
FLO1_OESOPHAGUS30012562300129123001283330012833Nonsense_MutationGCp.S831*
LB647PBL_MATCHED_NORMAL_TISSUE29996405299965092999642729996427Splice_SiteGAp.H1717H
LB647PBL_MATCHED_NORMAL_TISSUE29996366299965092999642729996427Splice_SiteGAp.H1717H
LB647PBL_MATCHED_NORMAL_TISSUE29996426299965092999642729996427Splice_SiteGAp.H1717H
LB647SCLC_LUNG29996405299965092999642729996427Splice_SiteGAp.H1717H
LB647SCLC_LUNG29996366299965092999642729996427Splice_SiteGAp.H1717H
LB647SCLC_LUNG29996426299965092999642729996427Splice_SiteGAp.H1717H
HKA1_SKIN30000763300012403000076330000763Splice_SiteCGp.S1617T
EN_ENDOMETRIUM30000763300012403000123930001239Splice_SiteAGp.G1458G
BICR18_UPPER_AERODIGESTIVE_TRACT30020141300202233002014130020141Splice_SiteTCp.Q700Q
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE30025298300255173002529830025298Splice_SiteCAp.R579I
HEC108_ENDOMETRIUM30053804300539723005380430053804Splice_SiteCTp.D288N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TJP1

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 TJP1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TJP1


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RelatedDrugs for TJP1

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 TJP1

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