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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 FBN1

check button Gene summary
Gene informationGene symbol

FBN1

Gene ID

2200

Gene namefibrillin 1
SynonymsACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2
Cytomap

15q21.1

Type of geneprotein-coding
Descriptionfibrillin-1asprosinfibrillin 15fibrillin-1 preproprotein
Modification date20180523
UniProtAcc

P35555

ContextPubMed: FBN1 [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
FBN1

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

FBN1

GO:0045671

negative regulation of osteoclast differentiation

24039232

FBN1

GO:2001205

negative regulation of osteoclast development

24039232


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Exon skipping events across known transcript of Ensembl for FBN1 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 FBN1

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 FBN1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1269131548703397:48703576:48704765:48704940:48707732:4870796448704765:48704940ENSG00000166147.9ENST00000561429.1,ENST00000316623.5,ENST00000559133.1
exon_skip_1269151548719763:48719970:48720078:48720140:48720542:4872066848720078:48720140ENSG00000166147.9ENST00000559133.1
exon_skip_1269161548729157:48729274:48729518:48729584:48729964:4873011448729518:48729584ENSG00000166147.9ENST00000316623.5,ENST00000559133.1,ENST00000537463.2
exon_skip_1269171548748833:48748959:48752442:48752514:48755278:4875543748752442:48752514ENSG00000166147.9ENST00000316623.5,ENST00000559133.1,ENST00000537463.2
exon_skip_1269181548818326:48818452:48826276:48826402:48829807:4883000548826276:48826402ENSG00000166147.9ENST00000316623.5
exon_skip_1269191548888479:48888575:48892335:48892431:48902924:4890302348892335:48892431ENSG00000166147.9ENST00000316623.5,ENST00000537463.2
exon_skip_1269201548905206:48905289:48936802:48937147:48937771:4893790648936802:48937147ENSG00000166147.9ENST00000537463.2

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

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Exon skipping events with PSIs in GTEx for FBN1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1269131548703397:48703576:48704765:48704940:48707732:4870796448704765:48704940ENSG00000166147.9ENST00000316623.5,ENST00000559133.1,ENST00000561429.1
exon_skip_1269151548719763:48719970:48720078:48720140:48720542:4872066848720078:48720140ENSG00000166147.9ENST00000559133.1
exon_skip_1269161548729157:48729274:48729518:48729584:48729964:4873011448729518:48729584ENSG00000166147.9ENST00000316623.5,ENST00000559133.1,ENST00000537463.2
exon_skip_1269171548748833:48748959:48752442:48752514:48755278:4875543748752442:48752514ENSG00000166147.9ENST00000316623.5,ENST00000559133.1,ENST00000537463.2
exon_skip_1269181548818326:48818452:48826276:48826402:48829807:4883000548826276:48826402ENSG00000166147.9ENST00000316623.5
exon_skip_1269191548888479:48888575:48892335:48892431:48902924:4890302348892335:48892431ENSG00000166147.9ENST00000316623.5,ENST00000537463.2
exon_skip_1269201548905206:48905289:48936802:48937147:48937771:4893790648936802:48937147ENSG00000166147.9ENST00000537463.2

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 FBN1

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
ENST000003166234870476548704940Frame-shift
ENST000003166234872951848729584In-frame
ENST000003166234875244248752514In-frame
ENST000003166234882627648826402In-frame
ENST000003166234889233548892431In-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
ENST000003166234870476548704940Frame-shift
ENST000003166234872951848729584In-frame
ENST000003166234875244248752514In-frame
ENST000003166234882627648826402In-frame
ENST000003166234889233548892431In-frame

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Infer the effects of exon skipping event on protein functional features for FBN1

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
ENST000003166231177328714889233548892431803898115147
ENST00000316623117732871488262764882640211931318245287
ENST0000031662311773287148752442487525145681575217411765
ENST0000031662311773287148729518487295846770683521042126

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
ENST000003166231177328714889233548892431803898115147
ENST00000316623117732871488262764882640211931318245287
ENST0000031662311773287148752442487525145681575217411765
ENST0000031662311773287148729518487295846770683521042126

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
P35555115147128130Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555115147133135Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555115147452731ChainID=PRO_0000007581;Note=Fibrillin-1;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10636927,ECO:0000305|PubMed:24982166;Dbxref=PMID:10636927,PMID:24982166
P35555115147119129Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|PubMed:24035709;Dbxref=PMID:24035709
P35555115147123134Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|PubMed:24035709;Dbxref=PMID:24035709
P35555115147136145Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|PubMed:24035709;Dbxref=PMID:24035709
P35555115147115146DomainNote=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555115147147178DomainNote=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555115147115115Natural variantID=VAR_017970;Note=In ECTOL1. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12203992;Dbxref=PMID:12203992
P35555115147122122Natural variantID=VAR_002277;Note=In MFS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11700157,ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:8040326,ECO:0000269|PubMed:9452085;Dbxref=dbSNP:rs137854467,PMID:11700157,PMI
P35555115147123123Natural variantID=VAR_023860;Note=In MFS. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16222657,ECO:0000269|PubMed:18435798;Dbxref=PMID:16222657,PMID:18435798
P35555115147127127Natural variantID=VAR_075990;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555115147129129Natural variantID=VAR_002278;Note=In MFS%3B severe neonatal. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19533785,ECO:0000269|PubMed:7611299;Dbxref=PMID:19533785,PMID:7611299
P35555115147133133Natural variantID=VAR_055723;Note=H->Q;Dbxref=dbSNP:rs363850
P35555115147136136Natural variantID=VAR_075991;Note=In MFS. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P3555511514745450RegionNote=N-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11461921;Dbxref=PMID:11461921
P35555115147119329RegionNote=Interaction with MFAP4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26601954;Dbxref=PMID:26601954
P35555115147118120TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M74
P35555115147142145TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M74
P35555245287244246Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555245287258265Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555245287268272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555245287452731ChainID=PRO_0000007581;Note=Fibrillin-1;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10636927,ECO:0000305|PubMed:24982166;Dbxref=PMID:10636927,PMID:24982166
P35555245287250262Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555245287257271Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555245287273286Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555245287246287DomainNote=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555245287249252HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P355552452872152871Natural variantID=VAR_075997;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552452872482871Natural variantID=VAR_075999;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P3555524528745450RegionNote=N-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11461921;Dbxref=PMID:11461921
P35555245287119329RegionNote=Interaction with MFAP4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26601954;Dbxref=PMID:26601954
P35555245287253255TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555245287281284TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P3555517411765452731ChainID=PRO_0000007581;Note=Fibrillin-1;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10636927,ECO:0000305|PubMed:24982166;Dbxref=PMID:10636927,PMID:24982166
P355551741176516931748DomainNote=TB 7
P35555174117652152871Natural variantID=VAR_075997;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117652482871Natural variantID=VAR_075999;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117653482871Natural variantID=VAR_076000;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P35555174117653512871Natural variantID=VAR_076001;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117653642871Natural variantID=VAR_076002;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117653662871Natural variantID=VAR_076005;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117654292871Natural variantID=VAR_076006;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12402346,ECO:0000269|PubMed:18435798;Dbxref=PMID:12402346,PMID:18435798
P35555174117655652871Natural variantID=VAR_076012;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117656532871Natural variantID=VAR_076019;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117657522871Natural variantID=VAR_076024;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117658612871Natural variantID=VAR_076027;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:19533785;Dbxref=PMID:17657824,PMID:19533785
P35555174117659212871Natural variantID=VAR_076033;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19533785;Dbxref=PMID:19533785
P35555174117659662871Natural variantID=VAR_076036;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117659882871Natural variantID=VAR_076039;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117659942871Natural variantID=VAR_076040;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355551741176510862871Natural variantID=VAR_076047;Note=In ECTOL1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355551741176511252871Natural variantID=VAR_076050;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:18435798;Dbxref=PMID:17657824,PMID:18435798
P355551741176511362871Natural variantID=VAR_076052;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355551741176511402871Natural variantID=VAR_076054;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355551741176515342871Natural variantID=VAR_076070;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355551741176515392871Natural variantID=VAR_076071;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18435798,ECO:0000269|PubMed:22772377;Dbxref=PMID:18435798,PMID:22772377
P355551741176515412871Natural variantID=VAR_076072;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12161601,ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:18435798;Dbxref=PMID:12161601,PMID:17657824,PMID:18435798
P355551741176516442871Natural variantID=VAR_076076;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355551741176517352871Natural variantID=VAR_076082;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355551741176517501750Natural variantID=VAR_066540;Note=In ACMICD. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21683322;Dbxref=PMID:21683322
P355551741176517581758Natural variantID=VAR_066541;Note=In ACMICD. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21683322;Dbxref=PMID:21683322
P355551741176517621762Natural variantID=VAR_066542;Note=In GPHYSD2. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21683322;Dbxref=PMID:21683322
P355551741176515282731RegionNote=C-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11461921;Dbxref=PMID:11461921
P3555521042126452731ChainID=PRO_0000007581;Note=Fibrillin-1;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10636927,ECO:0000305|PubMed:24982166;Dbxref=PMID:10636927,PMID:24982166
P355552104212620852111Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|PubMed:9362480;Dbxref=PMID:9362480
P355552104212620592111DomainNote=TB 8
P355552104212621052110HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1APJ
P35555210421262152871Natural variantID=VAR_075997;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421262482871Natural variantID=VAR_075999;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421263482871Natural variantID=VAR_076000;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P35555210421263512871Natural variantID=VAR_076001;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421263642871Natural variantID=VAR_076002;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421263662871Natural variantID=VAR_076005;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421264292871Natural variantID=VAR_076006;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12402346,ECO:0000269|PubMed:18435798;Dbxref=PMID:12402346,PMID:18435798
P35555210421265652871Natural variantID=VAR_076012;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421266532871Natural variantID=VAR_076019;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421267522871Natural variantID=VAR_076024;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421268612871Natural variantID=VAR_076027;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:19533785;Dbxref=PMID:17657824,PMID:19533785
P35555210421269212871Natural variantID=VAR_076033;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19533785;Dbxref=PMID:19533785
P35555210421269662871Natural variantID=VAR_076036;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421269882871Natural variantID=VAR_076039;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421269942871Natural variantID=VAR_076040;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212610862871Natural variantID=VAR_076047;Note=In ECTOL1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212611252871Natural variantID=VAR_076050;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:18435798;Dbxref=PMID:17657824,PMID:18435798
P355552104212611362871Natural variantID=VAR_076052;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212611402871Natural variantID=VAR_076054;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212615342871Natural variantID=VAR_076070;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212615392871Natural variantID=VAR_076071;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18435798,ECO:0000269|PubMed:22772377;Dbxref=PMID:18435798,PMID:22772377
P355552104212615412871Natural variantID=VAR_076072;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12161601,ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:18435798;Dbxref=PMID:12161601,PMID:17657824,PMID:18435798
P355552104212616442871Natural variantID=VAR_076076;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212617352871Natural variantID=VAR_076082;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212617902871Natural variantID=VAR_076084;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19533785;Dbxref=PMID:19533785
P355552104212617962871Natural variantID=VAR_076086;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212620532871Natural variantID=VAR_076108;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212620572871Natural variantID=VAR_076109;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212620622871Natural variantID=VAR_076110;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212620642871Natural variantID=VAR_076111;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212620812871Natural variantID=VAR_076112;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22772377;Dbxref=PMID:22772377
P355552104212621052105Natural variantID=VAR_076115;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212621112111Natural variantID=VAR_018029;Note=In MFS. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11826022;Dbxref=dbSNP:rs363815,PMID:11826022
P355552104212621112111Natural variantID=VAR_002334;Note=In MFS. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9338581;Dbxref=PMID:9338581
P355552104212621132113Natural variantID=VAR_055732;Note=Y->F;Dbxref=dbSNP:rs363816
P355552104212621182118Natural variantID=VAR_076116;Note=In MFS. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212615282731RegionNote=C-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11461921;Dbxref=PMID:11461921


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
P35555115147128130Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555115147133135Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555115147452731ChainID=PRO_0000007581;Note=Fibrillin-1;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10636927,ECO:0000305|PubMed:24982166;Dbxref=PMID:10636927,PMID:24982166
P35555115147119129Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|PubMed:24035709;Dbxref=PMID:24035709
P35555115147123134Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|PubMed:24035709;Dbxref=PMID:24035709
P35555115147136145Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|PubMed:24035709;Dbxref=PMID:24035709
P35555115147115146DomainNote=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555115147147178DomainNote=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555115147115115Natural variantID=VAR_017970;Note=In ECTOL1. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12203992;Dbxref=PMID:12203992
P35555115147122122Natural variantID=VAR_002277;Note=In MFS. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11700157,ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:8040326,ECO:0000269|PubMed:9452085;Dbxref=dbSNP:rs137854467,PMID:11700157,PMI
P35555115147123123Natural variantID=VAR_023860;Note=In MFS. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16222657,ECO:0000269|PubMed:18435798;Dbxref=PMID:16222657,PMID:18435798
P35555115147127127Natural variantID=VAR_075990;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555115147129129Natural variantID=VAR_002278;Note=In MFS%3B severe neonatal. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19533785,ECO:0000269|PubMed:7611299;Dbxref=PMID:19533785,PMID:7611299
P35555115147133133Natural variantID=VAR_055723;Note=H->Q;Dbxref=dbSNP:rs363850
P35555115147136136Natural variantID=VAR_075991;Note=In MFS. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P3555511514745450RegionNote=N-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11461921;Dbxref=PMID:11461921
P35555115147119329RegionNote=Interaction with MFAP4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26601954;Dbxref=PMID:26601954
P35555115147118120TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M74
P35555115147142145TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M74
P35555245287244246Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555245287258265Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555245287268272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555245287452731ChainID=PRO_0000007581;Note=Fibrillin-1;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10636927,ECO:0000305|PubMed:24982166;Dbxref=PMID:10636927,PMID:24982166
P35555245287250262Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555245287257271Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555245287273286Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555245287246287DomainNote=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P35555245287249252HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P355552452872152871Natural variantID=VAR_075997;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552452872482871Natural variantID=VAR_075999;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P3555524528745450RegionNote=N-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11461921;Dbxref=PMID:11461921
P35555245287119329RegionNote=Interaction with MFAP4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26601954;Dbxref=PMID:26601954
P35555245287253255TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P35555245287281284TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MS9
P3555517411765452731ChainID=PRO_0000007581;Note=Fibrillin-1;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10636927,ECO:0000305|PubMed:24982166;Dbxref=PMID:10636927,PMID:24982166
P355551741176516931748DomainNote=TB 7
P35555174117652152871Natural variantID=VAR_075997;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117652482871Natural variantID=VAR_075999;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117653482871Natural variantID=VAR_076000;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P35555174117653512871Natural variantID=VAR_076001;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117653642871Natural variantID=VAR_076002;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117653662871Natural variantID=VAR_076005;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117654292871Natural variantID=VAR_076006;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12402346,ECO:0000269|PubMed:18435798;Dbxref=PMID:12402346,PMID:18435798
P35555174117655652871Natural variantID=VAR_076012;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117656532871Natural variantID=VAR_076019;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117657522871Natural variantID=VAR_076024;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117658612871Natural variantID=VAR_076027;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:19533785;Dbxref=PMID:17657824,PMID:19533785
P35555174117659212871Natural variantID=VAR_076033;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19533785;Dbxref=PMID:19533785
P35555174117659662871Natural variantID=VAR_076036;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117659882871Natural variantID=VAR_076039;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555174117659942871Natural variantID=VAR_076040;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355551741176510862871Natural variantID=VAR_076047;Note=In ECTOL1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355551741176511252871Natural variantID=VAR_076050;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:18435798;Dbxref=PMID:17657824,PMID:18435798
P355551741176511362871Natural variantID=VAR_076052;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355551741176511402871Natural variantID=VAR_076054;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355551741176515342871Natural variantID=VAR_076070;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355551741176515392871Natural variantID=VAR_076071;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18435798,ECO:0000269|PubMed:22772377;Dbxref=PMID:18435798,PMID:22772377
P355551741176515412871Natural variantID=VAR_076072;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12161601,ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:18435798;Dbxref=PMID:12161601,PMID:17657824,PMID:18435798
P355551741176516442871Natural variantID=VAR_076076;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355551741176517352871Natural variantID=VAR_076082;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355551741176517501750Natural variantID=VAR_066540;Note=In ACMICD. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21683322;Dbxref=PMID:21683322
P355551741176517581758Natural variantID=VAR_066541;Note=In ACMICD. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21683322;Dbxref=PMID:21683322
P355551741176517621762Natural variantID=VAR_066542;Note=In GPHYSD2. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21683322;Dbxref=PMID:21683322
P355551741176515282731RegionNote=C-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11461921;Dbxref=PMID:11461921
P3555521042126452731ChainID=PRO_0000007581;Note=Fibrillin-1;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10636927,ECO:0000305|PubMed:24982166;Dbxref=PMID:10636927,PMID:24982166
P355552104212620852111Disulfide bondOntology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|PubMed:9362480;Dbxref=PMID:9362480
P355552104212620592111DomainNote=TB 8
P355552104212621052110HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1APJ
P35555210421262152871Natural variantID=VAR_075997;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421262482871Natural variantID=VAR_075999;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421263482871Natural variantID=VAR_076000;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P35555210421263512871Natural variantID=VAR_076001;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421263642871Natural variantID=VAR_076002;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421263662871Natural variantID=VAR_076005;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421264292871Natural variantID=VAR_076006;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12402346,ECO:0000269|PubMed:18435798;Dbxref=PMID:12402346,PMID:18435798
P35555210421265652871Natural variantID=VAR_076012;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421266532871Natural variantID=VAR_076019;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421267522871Natural variantID=VAR_076024;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421268612871Natural variantID=VAR_076027;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:19533785;Dbxref=PMID:17657824,PMID:19533785
P35555210421269212871Natural variantID=VAR_076033;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19533785;Dbxref=PMID:19533785
P35555210421269662871Natural variantID=VAR_076036;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421269882871Natural variantID=VAR_076039;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P35555210421269942871Natural variantID=VAR_076040;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212610862871Natural variantID=VAR_076047;Note=In ECTOL1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212611252871Natural variantID=VAR_076050;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:18435798;Dbxref=PMID:17657824,PMID:18435798
P355552104212611362871Natural variantID=VAR_076052;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212611402871Natural variantID=VAR_076054;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212615342871Natural variantID=VAR_076070;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212615392871Natural variantID=VAR_076071;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18435798,ECO:0000269|PubMed:22772377;Dbxref=PMID:18435798,PMID:22772377
P355552104212615412871Natural variantID=VAR_076072;Note=In MFS. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12161601,ECO:0000269|PubMed:17657824,ECO:0000269|PubMed:18435798;Dbxref=PMID:12161601,PMID:17657824,PMID:18435798
P355552104212616442871Natural variantID=VAR_076076;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212617352871Natural variantID=VAR_076082;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212617902871Natural variantID=VAR_076084;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19533785;Dbxref=PMID:19533785
P355552104212617962871Natural variantID=VAR_076086;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212620532871Natural variantID=VAR_076108;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212620572871Natural variantID=VAR_076109;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212620622871Natural variantID=VAR_076110;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212620642871Natural variantID=VAR_076111;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18435798;Dbxref=PMID:18435798
P355552104212620812871Natural variantID=VAR_076112;Note=In MFS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22772377;Dbxref=PMID:22772377
P355552104212621052105Natural variantID=VAR_076115;Note=Probable disease-associated mutation found in a patient with Marfan-like syndrome. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212621112111Natural variantID=VAR_018029;Note=In MFS. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11826022;Dbxref=dbSNP:rs363815,PMID:11826022
P355552104212621112111Natural variantID=VAR_002334;Note=In MFS. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9338581;Dbxref=PMID:9338581
P355552104212621132113Natural variantID=VAR_055732;Note=Y->F;Dbxref=dbSNP:rs363816
P355552104212621182118Natural variantID=VAR_076116;Note=In MFS. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17657824;Dbxref=PMID:17657824
P355552104212615282731RegionNote=C-terminal domain;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11461921;Dbxref=PMID:11461921


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SNVs in the skipped exons for FBN1

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-DD-A1EG-01exon_skip_126913
48704766487049404870479148704791Frame_Shift_DelT-p.N2734fs
LIHCTCGA-DD-A3A0-01exon_skip_126913
48704766487049404870490548704905Frame_Shift_DelT-p.N2696fs
LIHCTCGA-DD-A3A0-01exon_skip_126920
48936803489371474893689448936894Frame_Shift_DelC-p.A25fs
KIRCTCGA-CJ-4913-01exon_skip_126920
48936803489371474893693648936936Frame_Shift_DelG-p.L11fs
LIHCTCGA-BC-A10S-01exon_skip_126913
48704766487049404870482348704824Frame_Shift_Ins-Tp.S2723fs
HNSCTCGA-P3-A6SX-01exon_skip_126918
48826277488264024882628148826281Nonsense_MutationATp.C286*
BLCATCGA-4Z-AA7R-01exon_skip_126918
48826277488264024882636748826367Nonsense_MutationGAp.Q258*
STADTCGA-BR-8368-01exon_skip_126920
48936803489371474893696048936960Nonsense_MutationGAp.R3*

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

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT48704766487049404870490548704907In_Frame_DelTTT-p.N2696del
BICR18_UPPER_AERODIGESTIVE_TRACT48704766487049404870490348704904In_Frame_Ins-ACCp.2696_2697NP>NGP
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48704766487049404870483648704836Missense_MutationTCp.K2719R
NCIH1770_LUNG48752443487525144875246348752463Missense_MutationAGp.I1759T
NCIH2106_LUNG48752443487525144875246348752463Missense_MutationAGp.I1759T
BICR18_UPPER_AERODIGESTIVE_TRACT48826277488264024882630448826304Missense_MutationGAp.L279F
CW2_LARGE_INTESTINE48826277488264024882635648826356Missense_MutationATp.N261K
KM12_LARGE_INTESTINE48892336488924314889234448892344Missense_MutationCTp.C145Y
NCIH2023_LUNG48892336488924314889238448892384Missense_MutationCAp.D132Y
SW1417_LARGE_INTESTINE48892336488924314889238448892384Missense_MutationCGp.D132H
LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48892336488924314889241348892413Missense_MutationCTp.R122H
COLO320_LARGE_INTESTINE48936803489371474893687048936870Missense_MutationTCp.N33D
HCT116_LARGE_INTESTINE48936803489371474893687048936870Missense_MutationTCp.N33D
LS123_LARGE_INTESTINE48936803489371474893687048936870Missense_MutationTCp.N33D
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48936803489371474893687048936870Missense_MutationTCp.N33D
SW1463_LARGE_INTESTINE48936803489371474893687048936870Missense_MutationTCp.N33D
HCT15_LARGE_INTESTINE48936803489371474893689348936893Missense_MutationGAp.A25V
HRT18_LARGE_INTESTINE48936803489371474893689348936893Missense_MutationGAp.A25V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBN1

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 FBN1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBN1


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RelatedDrugs for FBN1

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 FBN1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
FBN1C0024796Marfan Syndrome48CTD_human;ORPHANET;UNIPROT
FBN1C3541518ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT5CTD_human;UNIPROT
FBN1C0003496Aortic Rupture1CTD_human
FBN1C0003706Arachnodactyly1CTD_human;HPO
FBN1C0013581Ectopia Lentis1CTD_human;HPO;ORPHANET
FBN1C0014175Endometriosis1CTD_human
FBN1C0020456Hyperglycemia1CTD_human
FBN1C0020459Hyperinsulinism1CTD_human
FBN1C0023890Liver Cirrhosis1CTD_human
FBN1C0023893Liver Cirrhosis, Experimental1CTD_human
FBN1C0162872Aortic Aneurysm, Thoracic1CTD_human
FBN1C0265287Acromicric Dysplasia1ORPHANET;UNIPROT
FBN1C1861456Stiff Skin Syndrome1CTD_human;ORPHANET;UNIPROT
FBN1C3280054GELEOPHYSIC DYSPLASIA 21UNIPROT