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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 LTBP1

check button Gene summary
Gene informationGene symbol

LTBP1

Gene ID

4052

Gene namelatent transforming growth factor beta binding protein 1
Synonyms-
Cytomap

2p22.3

Type of geneprotein-coding
Descriptionlatent-transforming growth factor beta-binding protein 1LTBP-1TGF-beta1-BP-1transforming growth factor beta-1-binding protein 1
Modification date20180522
UniProtAcc

Q14766

ContextPubMed: LTBP1 [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 LTBP1 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 LTBP1

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 LTBP1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_324761233335648:33335818:33359859:33360027:33411922:3341214733359859:33360027ENSG00000049323.11ENST00000404816.2,ENST00000354476.3
exon_skip_324763233447146:33447218:33468728:33468851:33477743:3347791133468728:33468851ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2
exon_skip_324764233468728:33468851:33477743:33477911:33482350:3348257833477743:33477911ENSG00000049323.11ENST00000407925.1,ENST00000390003.4,ENST00000404816.2,ENST00000354476.3,ENST00000418533.2
exon_skip_324765233468728:33468851:33477743:33477911:33482509:3348257833477743:33477911ENSG00000049323.11ENST00000404525.1,ENST00000402934.1
exon_skip_324767233488363:33488459:33498722:33498848:33500031:3350015733498722:33498848ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2
exon_skip_324771233500031:33500157:33500867:33500990:33505105:3350522533500867:33500990ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2
exon_skip_324774233500975:33500990:33505105:33505225:33518226:3351834933505105:33505225ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2
exon_skip_324775233500975:33500990:33505105:33505225:33525517:3352564033505105:33505225ENSG00000049323.11ENST00000415140.2
exon_skip_324777233505105:33505225:33518226:33518349:33525517:3352564033518226:33518349ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2
exon_skip_324778233518226:33518349:33525517:33525640:33526588:3352671133525517:33525640ENSG00000049323.11ENST00000498013.1,ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000272273.5,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2
exon_skip_324781233525517:33525640:33526588:33526711:33534500:3353454933526588:33526711ENSG00000049323.11ENST00000498013.1,ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000415140.2,ENST00000404816.2,ENST00000272273.5,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2
exon_skip_324782233526698:33526711:33534500:33534623:33540210:3354033633534500:33534623ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000489740.1,ENST00000415140.2,ENST00000404816.2,ENST00000422669.1,ENST00000272273.5,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2
exon_skip_324787233540210:33540336:33567904:33568030:33572433:3357247633567904:33568030ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000415140.2,ENST00000404816.2,ENST00000354476.3,ENST00000402934.1
exon_skip_324789233540210:33540336:33572433:33572577:33585663:3358584633572433:33572577ENSG00000049323.11ENST00000422669.1,ENST00000272273.5,ENST00000418533.2
exon_skip_324792233567904:33568030:33572433:33572577:33585663:3358584633572433:33572577ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000354476.3
exon_skip_324793233572433:33572577:33585663:33585846:33586495:3358658233585663:33585846ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000422669.1,ENST00000272273.5,ENST00000354476.3,ENST00000418533.2
exon_skip_324794233572433:33572577:33585669:33585846:33586495:3358658233585669:33585846ENSG00000049323.11ENST00000402934.1
exon_skip_324795233590408:33590570:33614250:33614373:33622199:3362234933614250:33614373ENSG00000049323.11ENST00000407925.1,ENST00000404525.1,ENST00000390003.4,ENST00000404816.2,ENST00000272273.5,ENST00000354476.3,ENST00000402934.1,ENST00000418533.2

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

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Exon skipping events with PSIs in GTEx for LTBP1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_324761233335648:33335818:33359859:33360027:33411922:3341214733359859:33360027ENSG00000049323.11ENST00000404816.2,ENST00000354476.3
exon_skip_324763233447146:33447218:33468728:33468851:33477743:3347791133468728:33468851ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1
exon_skip_324764233468728:33468851:33477743:33477911:33482350:3348257833477743:33477911ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000407925.1
exon_skip_324765233468728:33468851:33477743:33477911:33482509:3348257833477743:33477911ENSG00000049323.11ENST00000402934.1,ENST00000404525.1
exon_skip_324767233488363:33488459:33498722:33498848:33500031:3350015733498722:33498848ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1
exon_skip_324771233500031:33500157:33500867:33500990:33505105:3350522533500867:33500990ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1
exon_skip_324774233500975:33500990:33505105:33505225:33518226:3351834933505105:33505225ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1
exon_skip_324775233500975:33500990:33505105:33505225:33525517:3352564033505105:33505225ENSG00000049323.11ENST00000415140.2
exon_skip_324777233505105:33505225:33518226:33518349:33525517:3352564033518226:33518349ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1
exon_skip_324778233518226:33518349:33525517:33525640:33526588:3352671133525517:33525640ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1,ENST00000498013.1,ENST00000272273.5
exon_skip_324781233525517:33525640:33526588:33526711:33534500:3353454933526588:33526711ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1,ENST00000415140.2,ENST00000498013.1,ENST00000272273.5
exon_skip_324782233526698:33526711:33534500:33534623:33540210:3354033633534500:33534623ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1,ENST00000415140.2,ENST00000272273.5,ENST00000422669.1,ENST00000489740.1
exon_skip_324787233540210:33540336:33567904:33568030:33572433:3357247633567904:33568030ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1,ENST00000415140.2
exon_skip_324789233540210:33540336:33572433:33572577:33585663:3358584633572433:33572577ENSG00000049323.11ENST00000418533.2,ENST00000272273.5,ENST00000422669.1
exon_skip_324792233567904:33568030:33572433:33572577:33585663:3358584633572433:33572577ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000404525.1,ENST00000407925.1
exon_skip_324793233572433:33572577:33585663:33585846:33586495:3358658233585663:33585846ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000404525.1,ENST00000407925.1,ENST00000272273.5,ENST00000422669.1
exon_skip_324794233572433:33572577:33585669:33585846:33586495:3358658233585669:33585846ENSG00000049323.11ENST00000402934.1
exon_skip_324795233590408:33590570:33614250:33614373:33622199:3362234933614250:33614373ENSG00000049323.11ENST00000404816.2,ENST00000354476.3,ENST00000390003.4,ENST00000418533.2,ENST00000402934.1,ENST00000404525.1,ENST00000407925.1,ENST00000272273.5

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 LTBP1

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
ENST000004048163335985933360027In-frame
ENST000004048163346872833468851In-frame
ENST000004048163347774333477911In-frame
ENST000004048163349872233498848In-frame
ENST000004048163350086733500990In-frame
ENST000004048163350510533505225In-frame
ENST000004048163351822633518349In-frame
ENST000004048163352551733525640In-frame
ENST000004048163352658833526711In-frame
ENST000004048163353450033534623In-frame
ENST000004048163356790433568030In-frame
ENST000004048163357243333572577In-frame
ENST000004048163358566333585846In-frame
ENST000004048163361425033614373In-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
ENST000004048163335985933360027In-frame
ENST000004048163346872833468851In-frame
ENST000004048163347774333477911In-frame
ENST000004048163349872233498848In-frame
ENST000004048163350086733500990In-frame
ENST000004048163350510533505225In-frame
ENST000004048163351822633518349In-frame
ENST000004048163352551733525640In-frame
ENST000004048163352658833526711In-frame
ENST000004048163353450033534623In-frame
ENST000004048163356790433568030In-frame
ENST000004048163357243333572577In-frame
ENST000004048163358566333585846In-frame
ENST000004048163361425033614373In-frame

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Infer the effects of exon skipping event on protein functional features for LTBP1

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
ENST0000040481663501721333598593336002713871554344400
ENST0000040481663501721334687283346885122302352625666
ENST0000040481663501721334777433347791123532520666722
ENST0000040481663501721334987223349884829713096872914
ENST0000040481663501721335008673350099032233345956997
ENST00000404816635017213350510533505225334634659971037
ENST000004048166350172133518226335183493466358810371078
ENST000004048166350172133525517335256403589371110781119
ENST000004048166350172133526588335267113712383411191160
ENST000004048166350172133534500335346233835395711601201
ENST000004048166350172133567904335680304084420912431285
ENST000004048166350172133572433335725774210435312851333
ENST000004048166350172133585663335858464354453613331394
ENST000004048166350172133614250336143735065518715701611

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
ENST0000040481663501721333598593336002713871554344400
ENST0000040481663501721334687283346885122302352625666
ENST0000040481663501721334777433347791123532520666722
ENST0000040481663501721334987223349884829713096872914
ENST0000040481663501721335008673350099032233345956997
ENST00000404816635017213350510533505225334634659971037
ENST000004048166350172133518226335183493466358810371078
ENST000004048166350172133525517335256403589371110781119
ENST000004048166350172133526588335267113712383411191160
ENST000004048166350172133534500335346233835395711601201
ENST000004048166350172133567904335680304084420912431285
ENST000004048166350172133572433335725774210435312851333
ENST000004048166350172133585663335858464354453613331394
ENST000004048166350172133614250336143735065518715701611

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
Q14766344400327345Alternative sequenceID=VSP_036964;Note=In isoform Short%2C isoform 3 and isoform 5. EGSFPLRYVQDQVAAPFQL->MDTKLMCLLFFFSLPPLLV;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2350783,ECO:0000303|
Q14766344400241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766344400399431DomainNote=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766344400347347GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14766344400378378GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14766625666241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766625666630641Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766625666636650Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766625666652665Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766625666626663DomainNote=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766666722241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766666722679702Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722689714Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722703717Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722704729Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722677729DomainNote=TB 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722691691Sequence conflictNote=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14766666722694694Sequence conflictNote=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14766666722710710Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14766666722710710Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14766872914241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766872914877889Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766872914884898Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766872914900913Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766872914873910DomainNote=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766956997961972Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997967981Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997984996Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997915956DomainNote=EGF-like 5%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997957997DomainNote=EGF-like 6%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997974974Modified residueNote=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2350783;Dbxref=PMID:2350783
Q147669971037241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766997103710021013Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766997103710081022Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766997103710251036Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147669971037957997DomainNote=EGF-like 6%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q1476699710379981037DomainNote=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q1476610371078241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661037107810421053Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661037107810481062Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661037107810641077Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766103710789981037DomainNote=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661037107810381078DomainNote=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q1476610781119241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661078111910831094Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661078111910891103Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661078111911051118Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661078111910381078DomainNote=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661078111910791119DomainNote=EGF-like 9%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q1476611191160241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661119116011241135Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116011301144Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116011461159Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116010791119DomainNote=EGF-like 9%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116011201160DomainNote=EGF-like 10%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116011371137Modified residueNote=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2350783;Dbxref=PMID:2350783
Q1476611601201241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661160120111651177Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111721186Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111881200Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111201160DomainNote=EGF-like 10%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111611201DomainNote=EGF-like 11%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111971197GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q147661160120111741176MotifNote=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1476612431285241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661243128512481260Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661243128512541269Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661243128512021243DomainNote=EGF-like 12%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661243128512441281DomainNote=EGF-like 13%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661243128512501250GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1476612851333241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661285133312861328DomainNote=EGF-like 14%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661333139413401342Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413461353Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413661368Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413781382Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413851388Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413921394Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q1476613331394241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661333139413491372Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00697,ECO:0000269|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413591384Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00697,ECO:0000269|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413591359Disulfide bondNote=Interchain (with C-33 in TGFB1)%3B in linked form;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413731389Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00697,ECO:0000269|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413741401Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00697,ECO:0000269|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413841384Disulfide bondNote=Interchain (with C-33 in TGFB1)%3B in linked form;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413471401DomainNote=TB 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q147661333139413661366GlycosylationID=CAR_000184;Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10677208,ECO:0000269|PubMed:8617200;Dbxref=PMID:10677208,PMID:8617200
Q147661333139413691374HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413481348MutagenesisNote=Abolishes interaction with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1%3B when associated with 1382-A--A-1385. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15567420;Dbxref=PMID:15567420
Q147661333139413661366MutagenesisNote=Abolishes N-glycosylation at this site without affecting ability to interact with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1. N->A%2CQ;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8617200,ECO:0000269|Pub
Q147661333139413821385MutagenesisNote=Abolishes interaction with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1%3B when associated with A-1348. DNCE->ANCA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15567420;Dbxref=PMID:15567420
Q147661333139413851388MutagenesisNote=Loss of binding to TGFB1. EIFP->DL;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10930463;Dbxref=PMID:10930463
Q147661333139413441411RegionNote=8-Cys3 region;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8617200,ECO:0000269|PubMed:8939931;Dbxref=PMID:8617200,PMID:8939931
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413551358TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q1476615701611241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661570161115521577Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q147661570161115241577DomainNote=TB 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q147661570161115971597Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18088087;Dbxref=PMID:18088087
Q147661570161115071721RegionNote=C-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17293099;Dbxref=PMID:17293099


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
Q14766344400327345Alternative sequenceID=VSP_036964;Note=In isoform Short%2C isoform 3 and isoform 5. EGSFPLRYVQDQVAAPFQL->MDTKLMCLLFFFSLPPLLV;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2350783,ECO:0000303|
Q14766344400241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766344400399431DomainNote=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766344400347347GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14766344400378378GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q14766625666241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766625666630641Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766625666636650Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766625666652665Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766625666626663DomainNote=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766666722241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766666722679702Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722689714Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722703717Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722704729Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722677729DomainNote=TB 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q14766666722691691Sequence conflictNote=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14766666722694694Sequence conflictNote=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14766666722710710Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14766666722710710Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14766872914241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766872914877889Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766872914884898Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766872914900913Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766872914873910DomainNote=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766956997961972Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997967981Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997984996Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997915956DomainNote=EGF-like 5%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997957997DomainNote=EGF-like 6%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766956997974974Modified residueNote=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2350783;Dbxref=PMID:2350783
Q147669971037241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q14766997103710021013Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766997103710081022Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766997103710251036Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147669971037957997DomainNote=EGF-like 6%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q1476699710379981037DomainNote=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q1476610371078241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661037107810421053Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661037107810481062Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661037107810641077Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q14766103710789981037DomainNote=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661037107810381078DomainNote=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q1476610781119241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661078111910831094Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661078111910891103Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661078111911051118Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661078111910381078DomainNote=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661078111910791119DomainNote=EGF-like 9%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q1476611191160241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661119116011241135Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116011301144Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116011461159Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116010791119DomainNote=EGF-like 9%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116011201160DomainNote=EGF-like 10%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661119116011371137Modified residueNote=(3R)-3-hydroxyasparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2350783;Dbxref=PMID:2350783
Q1476611601201241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661160120111651177Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111721186Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111881200Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111201160DomainNote=EGF-like 10%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111611201DomainNote=EGF-like 11%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661160120111971197GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q147661160120111741176MotifNote=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1476612431285241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661243128512481260Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661243128512541269Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661243128512021243DomainNote=EGF-like 12%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661243128512441281DomainNote=EGF-like 13%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661243128512501250GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1476612851333241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661285133312861328DomainNote=EGF-like 14%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q147661333139413401342Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413461353Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413661368Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413781382Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413851388Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413921394Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q1476613331394241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661333139413491372Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00697,ECO:0000269|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413591384Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00697,ECO:0000269|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413591359Disulfide bondNote=Interchain (with C-33 in TGFB1)%3B in linked form;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413731389Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00697,ECO:0000269|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413741401Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00697,ECO:0000269|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413841384Disulfide bondNote=Interchain (with C-33 in TGFB1)%3B in linked form;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:14607119;Dbxref=PMID:14607119
Q147661333139413471401DomainNote=TB 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q147661333139413661366GlycosylationID=CAR_000184;Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10677208,ECO:0000269|PubMed:8617200;Dbxref=PMID:10677208,PMID:8617200
Q147661333139413691374HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q147661333139413481348MutagenesisNote=Abolishes interaction with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1%3B when associated with 1382-A--A-1385. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15567420;Dbxref=PMID:15567420
Q147661333139413661366MutagenesisNote=Abolishes N-glycosylation at this site without affecting ability to interact with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1. N->A%2CQ;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8617200,ECO:0000269|Pub
Q147661333139413821385MutagenesisNote=Abolishes interaction with the Latency-associated peptide chain (LAP) regulatory chain of TGFB1%3B when associated with A-1348. DNCE->ANCA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15567420;Dbxref=PMID:15567420
Q147661333139413851388MutagenesisNote=Loss of binding to TGFB1. EIFP->DL;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10930463;Dbxref=PMID:10930463
Q147661333139413441411RegionNote=8-Cys3 region;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8617200,ECO:0000269|PubMed:8939931;Dbxref=PMID:8617200,PMID:8939931
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413781378Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q147661333139413551358TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KSQ
Q1476615701611241721ChainID=PRO_0000007635;Note=Latent-transforming growth factor beta-binding protein 1
Q147661570161115521577Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q147661570161115241577DomainNote=TB 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00697
Q147661570161115971597Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18088087;Dbxref=PMID:18088087
Q147661570161115071721RegionNote=C-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17293099;Dbxref=PMID:17293099


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SNVs in the skipped exons for LTBP1

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_324761
33359860333600273335995433359954Frame_Shift_DelG-p.K376fs
LIHCTCGA-G3-A3CJ-01exon_skip_324763
33468729334688513346880933468809Frame_Shift_DelA-p.K653fs
LIHCTCGA-DD-A1EG-01exon_skip_324764
exon_skip_324765
33477744334779113347774933477749Frame_Shift_DelC-p.P670fs
LIHCTCGA-DD-A39Y-01exon_skip_324771
33500868335009903350092633500926Frame_Shift_DelG-p.V976fs
LIHCTCGA-G3-A3CJ-01exon_skip_324774
exon_skip_324775
33505106335052253350511933505119Frame_Shift_DelT-p.C1002fs
HNSCTCGA-CV-7430-01exon_skip_324795
33614251336143733361426333614282Frame_Shift_DelAGCTGTGTAACATCCCCGTG-p.Q1576fs
HNSCTCGA-CV-7430-01exon_skip_324795
33614251336143733361426333614282Frame_Shift_DelAGCTGTGTAACATCCCCGTG-p.QLCNIPV1575fs
BLCATCGA-E5-A4U1-01exon_skip_324763
33468729334688513346884033468840Nonsense_MutationCGp.S663*
LUADTCGA-99-8032-01exon_skip_324764
exon_skip_324765
33477744334779113347785033477850Nonsense_MutationCAp.C702*
LUSCTCGA-46-3769-01exon_skip_324771
33500868335009903350094233500942Nonsense_MutationGTp.E982*
LUSCTCGA-34-5236-01exon_skip_324774
exon_skip_324775
33505106335052253350511433505114Nonsense_MutationGTp.E1001*
LUADTCGA-38-4632-01exon_skip_324774
exon_skip_324775
33505106335052253350517433505174Nonsense_MutationCTp.Q1021*
LUADTCGA-38-4632-01exon_skip_324774
exon_skip_324775
33505106335052253350517433505174Nonsense_MutationCTp.Q1022*
STADTCGA-KB-A93G-01exon_skip_324774
exon_skip_324775
33505106335052253350520133505201Nonsense_MutationCTp.R1030*
STADTCGA-KB-A93G-01exon_skip_324774
exon_skip_324775
33505106335052253350520133505201Nonsense_MutationCTp.R1030X
SKCMTCGA-EE-A2GC-06exon_skip_324774
exon_skip_324775
33505106335052253350520833505208Nonsense_MutationGAp.W1032*
SKCMTCGA-EE-A2GC-06exon_skip_324774
exon_skip_324775
33505106335052253350520833505208Nonsense_MutationGAp.W706X
READTCGA-AG-A002-01exon_skip_324781
33526589335267113352659733526597Nonsense_MutationGTp.E797X
BLCATCGA-DK-AA6L-01exon_skip_324782
33534501335346233353459633534596Nonsense_MutationCTp.Q1193*
BLCATCGA-K4-A6FZ-01exon_skip_324787
33567905335680303356800033568000Nonsense_MutationCTp.Q1276*
SKCMTCGA-FW-A3R5-06exon_skip_324793
exon_skip_324794
33585664335858463358568433585684Nonsense_MutationCTp.Q1015X
SKCMTCGA-FW-A3R5-06exon_skip_324793
exon_skip_324794
33585664335858463358568433585684Nonsense_MutationCTp.Q1341*
SKCMTCGA-FW-A3R5-06exon_skip_324793
exon_skip_324794
33585670335858463358568433585684Nonsense_MutationCTp.Q1015X
SKCMTCGA-FW-A3R5-06exon_skip_324793
exon_skip_324794
33585670335858463358568433585684Nonsense_MutationCTp.Q1341*
COADTCGA-AZ-4315-01exon_skip_324793
exon_skip_324794
33585664335858463358570533585705Nonsense_MutationGTp.E1022X
COADTCGA-AZ-4315-01exon_skip_324793
exon_skip_324794
33585670335858463358570533585705Nonsense_MutationGTp.E1022X
LUADTCGA-05-4390-01exon_skip_324793
exon_skip_324794
33585664335858463358579033585790Nonsense_MutationCAp.S1376*
LUADTCGA-05-4390-01exon_skip_324793
exon_skip_324794
33585664335858463358579033585790Nonsense_MutationCAp.S1377*
LUADTCGA-05-4390-01exon_skip_324793
exon_skip_324794
33585670335858463358579033585790Nonsense_MutationCAp.S1376*
LUADTCGA-05-4390-01exon_skip_324793
exon_skip_324794
33585670335858463358579033585790Nonsense_MutationCAp.S1377*
UCECTCGA-BS-A0UF-01exon_skip_324767
33498723334988483349872233498722Splice_SiteGTe16-1
SKCMTCGA-D9-A6E9-06exon_skip_324778
33525518335256403352551733525517Splice_SiteGA.
LUSCTCGA-43-5668-01exon_skip_324787
33567905335680303356790333567903Splice_SiteACp.D1244_splice
LUADTCGA-67-3773-01exon_skip_324792
exon_skip_324789
33572434335725773357257833572578Splice_SiteGAp.D1335_splice
UCECTCGA-A5-A0GW-01exon_skip_324795
33614251336143733361437533614375Splice_SiteTCe32+2
UCECTCGA-A5-A0GW-01exon_skip_324795
33614251336143733361437533614375Splice_SiteTCp.R1612_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
LTBP1_33500975_33500990_33505105_33505225_33525517_33525640_TCGA-34-5236-01Sample: TCGA-34-5236-01
Cancer type: LUSC
ESID: exon_skip_324775
Skipped exon start: 33505106
Skipped exon end: 33505225
Mutation start: 33505114
Mutation end: 33505114
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.E1001*
exon_skip_324775_LUSC_TCGA-34-5236-01.png
boxplot
LTBP1_33488363_33488459_33498722_33498848_33500031_33500157_TCGA-BS-A0UF-01Sample: TCGA-BS-A0UF-01
Cancer type: UCEC
ESID: exon_skip_324767
Skipped exon start: 33498723
Skipped exon end: 33498848
Mutation start: 33498722
Mutation end: 33498722
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: e16-1
exon_skip_104037_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_105868_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_105985_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_115426_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_14705_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_147467_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_19372_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_286379_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_294437_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_321837_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_324767_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_345944_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_345950_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_382354_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_389258_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_389265_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_39691_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_40297_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_461887_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_482464_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_59390_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_82288_UCEC_TCGA-BS-A0UF-01.png
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exon_skip_84605_UCEC_TCGA-BS-A0UF-01.png
boxplot
exon_skip_95240_UCEC_TCGA-BS-A0UF-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
BICR18_UPPER_AERODIGESTIVE_TRACT33526589335267113352666933526670Frame_Shift_Ins-CAp.D1147fs
SNU5_STOMACH33359860333600273335987833359878Missense_MutationGAp.R351H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33359860333600273335993233359932Missense_MutationGAp.S369N
BICR18_UPPER_AERODIGESTIVE_TRACT33359860333600273335993233359932Missense_MutationGAp.S369N
TGBC1TKB_BILIARY_TRACT33359860333600273335998933359989Missense_MutationAGp.H388R
COLO668_LUNG33359860333600273336000333360003Missense_MutationCAp.L393M
CAL12T_LUNG33468729334688513346873733468737Missense_MutationGAp.E629K
SNU81_LARGE_INTESTINE33468729334688513346873833468738Missense_MutationAGp.E629G
WM88_SKIN33468729334688513346875233468752Missense_MutationGAp.G634S
MET2B33468729334688513346881533468815Missense_MutationGAp.G655R
HEC251_ENDOMETRIUM33468729334688513346882433468824Missense_MutationCTp.P658S
NCIH2009_LUNG33477744334779113347776433477764Missense_MutationGAp.E674K
JHU011_UPPER_AERODIGESTIVE_TRACT33477744334779113347780733477807Missense_MutationAGp.Q688R
OVISE_OVARY33477744334779113347781233477812Missense_MutationAGp.M690V
BICR18_UPPER_AERODIGESTIVE_TRACT33477744334779113347784533477845Missense_MutationCAp.L701I
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33477744334779113347786133477861Missense_MutationTAp.V706E
NCIH1339_LUNG33477744334779113347788733477887Missense_MutationGCp.E715Q
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33477744334779113347790233477902Missense_MutationCGp.P720A
SNU407_LARGE_INTESTINE33498723334988483349880933498809Missense_MutationGAp.E902K
HEC1A_ENDOMETRIUM33500868335009903350088033500880Missense_MutationGAp.C961Y
SNU175_LARGE_INTESTINE33500868335009903350088933500889Missense_MutationCAp.P964Q
HARA_LUNG33500868335009903350090533500905Missense_MutationGTp.E969D
NCIH661_LUNG33500868335009903350091233500912Missense_MutationTAp.C972S
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33500868335009903350093733500937Missense_MutationGAp.R980Q
MDAMB330_BREAST33500868335009903350094233500942Missense_MutationGCp.E982Q
EBC1_LUNG33500868335009903350094933500949Missense_MutationGTp.C984F
HCC1195_LUNG33500868335009903350098533500985Missense_MutationGTp.C996F
JHU029_UPPER_AERODIGESTIVE_TRACT33505106335052253350512333505123Missense_MutationACp.N1004H
CP67MEL_SKIN33505106335052253350512933505129Missense_MutationACp.S1006R
NCIH630_LARGE_INTESTINE33505106335052253350512933505129Missense_MutationACp.S1006R
HS895T_FIBROBLAST33505106335052253350516633505166Missense_MutationGAp.G1018E
HCC461_LUNG33505106335052253350521333505213Missense_MutationGAp.G1034R
IGROV1_OVARY33518227335183493351830533518305Missense_MutationGAp.C1064Y
HLE_LIVER33518227335183493351830833518308Missense_MutationAGp.H1065R
HLF_LIVER33518227335183493351830833518308Missense_MutationAGp.H1065R
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33518227335183493351831933518319Missense_MutationATp.T1069S
NCIH2342_LUNG33518227335183493351834733518347Missense_MutationGCp.R1078T
TE9_OESOPHAGUS33525518335256403352554433525544Missense_MutationCAp.L1088I
KM12_LARGE_INTESTINE33526589335267113352660133526601Missense_MutationGAp.C1124Y
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33526589335267113352663633526636Missense_MutationATp.R1136W
UBLC1_URINARY_TRACT33526589335267113352666133526661Missense_MutationGTp.C1144F
KP1N_PANCREAS33526589335267113352666833526668Missense_MutationTGp.C1146W
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33534501335346233353450333534503Missense_MutationAGp.I1162V
201T_LUNG33534501335346233353453733534538Missense_MutationAGTTp.Q1173L
HEC108_ENDOMETRIUM33534501335346233353456633534566Missense_MutationTCp.S1183P
NCIH1563_LUNG33534501335346233353458733534587Missense_MutationGAp.D1190N
ANGMCSS_CENTRAL_NERVOUS_SYSTEM33567905335680303356802133568021Missense_MutationGAp.G1283R
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33572434335725773357244033572440Missense_MutationAGp.N1288S
MM127_SKIN33572434335725773357244833572448Missense_MutationGAp.E1291K
NCIH748_LUNG33572434335725773357249033572490Missense_MutationGAp.V1305M
SNU878_LIVER33572434335725773357250933572509Missense_MutationGTp.C1311F
NCIH510_LUNG33585664335858463358572933585729Missense_MutationGTp.A1356S
NCIH510_LUNG33585670335858463358572933585729Missense_MutationGTp.A1356S
NCIH1651_LUNG33585664335858463358576233585762Missense_MutationGAp.V1367I
NCIH1651_LUNG33585670335858463358576233585762Missense_MutationGAp.V1367I
NUGC3_STOMACH33614251336143733361427833614278Missense_MutationCAp.P1580H
8MGBA_CENTRAL_NERVOUS_SYSTEM33614251336143733361428033614280Missense_MutationGAp.V1581M
CALU1_LUNG33614251336143733361431633614316Missense_MutationTAp.L1593M
LB2518MEL_SKIN33468729334688513346879733468797Nonsense_MutationCTp.R649*
CCK81_LARGE_INTESTINE33468729334688513346873033468730Splice_SiteTCp.D626D
BICR18_UPPER_AERODIGESTIVE_TRACT33477744334779113347774533477745Splice_SiteTGp.P667P
YD38_UPPER_AERODIGESTIVE_TRACT33500868335009903350086933500869Splice_SiteTAp.D957E
VMRCLCD_LUNG33534501335346233353462333534623Splice_SiteGAp.D1202N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LTBP1

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 LTBP1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LTBP1


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RelatedDrugs for LTBP1

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 LTBP1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
LTBP1C0023893Liver Cirrhosis, Experimental1CTD_human