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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 FN1

check button Gene summary
Gene informationGene symbol

FN1

Gene ID

2335

Gene namefibronectin 1
SynonymsCIG|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF|SMDCF
Cytomap

2q35

Type of geneprotein-coding
Descriptionfibronectincold-insoluble globulinmigration-stimulating factor
Modification date20180527
UniProtAcc

P02751

ContextPubMed: FN1 [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
FN1

GO:0001932

regulation of protein phosphorylation

11792823

FN1

GO:0008284

positive regulation of cell proliferation

25834989

FN1

GO:0010628

positive regulation of gene expression

25834989

FN1

GO:0018149

peptide cross-linking

3997886

FN1

GO:0034446

substrate adhesion-dependent cell spreading

16236823

FN1

GO:0035987

endodermal cell differentiation

23154389

FN1

GO:0048146

positive regulation of fibroblast proliferation

25834989

FN1

GO:0051702

interaction with symbiont

12167537|12421310|19429745

FN1

GO:0052047

interaction with other organism via secreted substance involved in symbiotic interaction

17849409

FN1

GO:0070372

regulation of ERK1 and ERK2 cascade

11792823

FN1

GO:1904237

positive regulation of substrate-dependent cell migration, cell attachment to substrate

25834989

FN1

GO:2001202

negative regulation of transforming growth factor-beta secretion

25834989


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Exon skipping events across known transcript of Ensembl for FN1 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 FN1

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 FN1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3464432216226267:216226349:216226691:216226802:216229601:216229708216226691:216226802ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000346544.3,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENS
exon_skip_3464492216229601:216229708:216230227:216230353:216232585:216232750216230227:216230353ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3464572216230227:216230353:216232585:216232750:216235016:216235103216232585:216232750ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3464582216230227:216230353:216232585:216232750:216236631:216236738216232585:216232750ENSG00000115414.14ENST00000357009.2
exon_skip_3464592216230236:216230353:216232585:216232750:216238044:216238134216232585:216232750ENSG00000115414.14ENST00000345488.5
exon_skip_3464622216230227:216230353:216235016:216235155:216236631:216236738216235016:216235155ENSG00000115414.14ENST00000346544.3
exon_skip_3464702216232585:216232750:216235016:216235155:216236631:216236691216235016:216235155ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3464752216232585:216232750:216236631:216236738:216238044:216238133216236631:216236738ENSG00000115414.14ENST00000357009.2
exon_skip_3464912216236631:216236738:216236831:216237023:216238044:216238133216236831:216237023ENSG00000115414.14ENST00000421182.1,ENST00000446046.1
exon_skip_3464932216236631:216236738:216236831:216237098:216238044:216238133216236831:216237098ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000323926.6,ENST00000336916.4
exon_skip_3465002216238044:216238134:216239936:216240116:216240351:216240412216239936:216240116ENSG00000115414.14ENST00000438981.1,ENST00000460217.1,ENST00000443816.1,ENST00000492816.2,ENST00000346544.3,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENS
exon_skip_3465032216239936:216240116:216240351:216240441:216241220:216241397216240351:216240441ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000346544.3,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENS
exon_skip_3465082216243927:216244040:216245533:216245803:216246934:216247048216245533:216245803ENSG00000115414.14ENST00000346544.3,ENST00000323926.6,ENST00000336916.4,ENST00000357009.2,ENST00000345488.5,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465112216243927:216244040:216246934:216247048:216248050:216248206216246934:216247048ENSG00000115414.14ENST00000443816.1,ENST00000432072.2,ENST00000456923.1,ENST00000356005.4,ENST00000357867.4,ENST00000421182.1
exon_skip_3465172216245533:216245803:216246725:216246771:216246934:216247048216246725:216246771ENSG00000115414.14ENST00000490833.1
exon_skip_3465192216245533:216245803:216246934:216247048:216248050:216248206216246934:216247048ENSG00000115414.14ENST00000346544.3,ENST00000323926.6,ENST00000336916.4,ENST00000357009.2,ENST00000345488.5,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465222216246934:216247048:216248050:216248206:216248742:216248803216248050:216248206ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000346544.3,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000480737.1,ENST00000421182.1,ENST00000359671.1,ENS
exon_skip_3465242216249582:216249699:216251411:216251681:216252934:216253023216251411:216251681ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000346544.3,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENS
exon_skip_3465302216251411:216251681:216252934:216253024:216256354:216256537216252934:216253024ENSG00000115414.14ENST00000443816.1,ENST00000492816.2,ENST00000346544.3,ENST00000432072.2,ENST00000456923.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENS
exon_skip_3465322216252934:216253024:216256354:216256537:216259250:216259442216256354:216256537ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000446046.1
exon_skip_3465372216256354:216256537:216257653:216257926:216259250:216259442216257653:216257926ENSG00000115414.14ENST00000432072.2,ENST00000323926.6,ENST00000354785.4
exon_skip_3465392216272830:216272920:216273020:216273149:216274285:216274462216273020:216273149ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465412216273041:216273149:216274285:216274462:216274656:216274837216274285:216274462ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465442216274285:216274462:216274656:216274837:216279559:216279681216274656:216274837ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465482216279559:216279681:216283964:216284108:216285395:216285524216283964:216284108ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465492216284011:216284108:216285395:216285524:216286813:216286966216285395:216285524ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465502216285395:216285524:216286813:216286966:216288072:216288249216286813:216286966ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465542216295437:216295575:216296555:216296687:216298046:216298184216296555:216296687ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENSG00000115414.14ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1

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

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Exon skipping events with PSIs in GTEx for FN1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3464432216226267:216226349:216226691:216226802:216229601:216229708216226691:216226802ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENS
exon_skip_3464492216229601:216229708:216230227:216230353:216232585:216232750216230227:216230353ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000345488.5,ENST00000357009.2,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000456923.1
exon_skip_3464572216230227:216230353:216232585:216232750:216235016:216235103216232585:216232750ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000456923.1
exon_skip_3464582216230227:216230353:216232585:216232750:216236631:216236738216232585:216232750ENSG00000115414.14ENST00000357009.2
exon_skip_3464592216230236:216230353:216232585:216232750:216238044:216238134216232585:216232750ENSG00000115414.14ENST00000345488.5
exon_skip_3464622216230227:216230353:216235016:216235155:216236631:216236738216235016:216235155ENSG00000115414.14ENST00000346544.3
exon_skip_3464702216232585:216232750:216235016:216235155:216236631:216236691216235016:216235155ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000456923.1
exon_skip_3464752216232585:216232750:216236631:216236738:216238044:216238133216236631:216236738ENSG00000115414.14ENST00000357009.2
exon_skip_3464912216236631:216236738:216236831:216237023:216238044:216238133216236831:216237023ENSG00000115414.14ENST00000421182.1,ENST00000446046.1
exon_skip_3464932216236631:216236738:216236831:216237098:216238044:216238133216236831:216237098ENSG00000115414.14ENST00000323926.6,ENST00000336916.4,ENST00000492816.2,ENST00000443816.1
exon_skip_3465002216238044:216238134:216239936:216240116:216240351:216240412216239936:216240116ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENS
exon_skip_3465032216239936:216240116:216240351:216240441:216241220:216241397216240351:216240441ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENS
exon_skip_3465082216243927:216244040:216245533:216245803:216246934:216247048216245533:216245803ENSG00000115414.14ENST00000323926.6,ENST00000336916.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1
exon_skip_3465112216243927:216244040:216246934:216247048:216248050:216248206216246934:216247048ENSG00000115414.14ENST00000421182.1,ENST00000357867.4,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000456923.1
exon_skip_3465172216245533:216245803:216246725:216246771:216246934:216247048216246725:216246771ENSG00000115414.14ENST00000490833.1
exon_skip_3465192216245533:216245803:216246934:216247048:216248050:216248206216246934:216247048ENSG00000115414.14ENST00000323926.6,ENST00000336916.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1
exon_skip_3465222216246934:216247048:216248050:216248206:216248742:216248803216248050:216248206ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENS
exon_skip_3465242216249582:216249699:216251411:216251681:216252934:216253023216251411:216251681ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENS
exon_skip_3465302216251411:216251681:216252934:216253024:216256354:216256537216252934:216253024ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000492816.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENS
exon_skip_3465322216252934:216253024:216256354:216256537:216259250:216259442216256354:216256537ENSG00000115414.14ENST00000421182.1,ENST00000336916.4,ENST00000357867.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000356005.4
exon_skip_3465372216256354:216256537:216257653:216257926:216259250:216259442216257653:216257926ENSG00000115414.14ENST00000323926.6,ENST00000354785.4,ENST00000432072.2
exon_skip_3465392216272830:216272920:216273020:216273149:216274285:216274462216273020:216273149ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4
exon_skip_3465412216273041:216273149:216274285:216274462:216274656:216274837216274285:216274462ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4
exon_skip_3465442216274285:216274462:216274656:216274837:216279559:216279681216274656:216274837ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4
exon_skip_3465482216279559:216279681:216283964:216284108:216285395:216285524216283964:216284108ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000426059.1
exon_skip_3465492216284011:216284108:216285395:216285524:216286813:216286966216285395:216285524ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000426059.1
exon_skip_3465502216285395:216285524:216286813:216286966:216288072:216288249216286813:216286966ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000426059.1
exon_skip_3465542216295437:216295575:216296555:216296687:216298046:216298184216296555:216296687ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000426059.1
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENSG00000115414.14ENST00000421182.1,ENST00000323926.6,ENST00000336916.4,ENST00000357867.4,ENST00000354785.4,ENST00000359671.1,ENST00000346544.3,ENST00000345488.5,ENST00000357009.2,ENST00000446046.1,ENST00000443816.1,ENST00000432072.2,ENST00000356005.4,ENST00000426059.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for FN1

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
ENST00000359671216235016216235155Frame-shift
ENST00000359671216274656216274837Frame-shift
ENST00000359671216226691216226802In-frame
ENST00000359671216230227216230353In-frame
ENST00000359671216232585216232750In-frame
ENST00000359671216239936216240116In-frame
ENST00000359671216240351216240441In-frame
ENST00000359671216245533216245803In-frame
ENST00000359671216246934216247048In-frame
ENST00000359671216248050216248206In-frame
ENST00000359671216251411216251681In-frame
ENST00000359671216252934216253024In-frame
ENST00000359671216256354216256537In-frame
ENST00000359671216273020216273149In-frame
ENST00000359671216274285216274462In-frame
ENST00000359671216283964216284108In-frame
ENST00000359671216285395216285524In-frame
ENST00000359671216286813216286966In-frame
ENST00000359671216296555216296687In-frame
ENST00000359671216298046216298184In-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
ENST00000359671216235016216235155Frame-shift
ENST00000359671216274656216274837Frame-shift
ENST00000359671216226691216226802In-frame
ENST00000359671216230227216230353In-frame
ENST00000359671216232585216232750In-frame
ENST00000359671216239936216240116In-frame
ENST00000359671216240351216240441In-frame
ENST00000359671216245533216245803In-frame
ENST00000359671216246934216247048In-frame
ENST00000359671216248050216248206In-frame
ENST00000359671216251411216251681In-frame
ENST00000359671216252934216253024In-frame
ENST00000359671216256354216256537In-frame
ENST00000359671216273020216273149In-frame
ENST00000359671216274285216274462In-frame
ENST00000359671216283964216284108In-frame
ENST00000359671216285395216285524In-frame
ENST00000359671216286813216286966In-frame
ENST00000359671216296555216296687In-frame
ENST00000359671216298046216298184In-frame

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Infer the effects of exon skipping event on protein functional features for FN1

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
ENST000003596718541238621629804621629818454468192138
ENST0000035967185412386216296555216296687682813138182
ENST000003596718541238621628681321628696616601812464515
ENST000003596718541238621628539521628552418131941515558
ENST000003596718541238621628396421628410819422085558606
ENST000003596718541238621627428521627446223892565707766
ENST000003596718541238621627302021627314925662694766809
ENST00000359671854123862162563542162565374063424512651326
ENST00000359671854123862162529342162530244246433513261356
ENST00000359671854123862162514112162516814336460513561446
ENST00000359671854123862162480502162482064888504315401592
ENST00000359671854123862162469342162470485044515715921630
ENST00000359671854123862162455332162458035158542716301720
ENST00000359671854123862162403512162404415881597018711901
ENST00000359671854123862162399362162401165971615019011961
ENST00000359671854123862162325852162327506847701121932248
ENST00000359671854123862162302272162303537012713722482290
ENST00000359671854123862162266912162268027245735523262363

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
ENST000003596718541238621629804621629818454468192138
ENST0000035967185412386216296555216296687682813138182
ENST000003596718541238621628681321628696616601812464515
ENST000003596718541238621628539521628552418131941515558
ENST000003596718541238621628396421628410819422085558606
ENST000003596718541238621627428521627446223892565707766
ENST000003596718541238621627302021627314925662694766809
ENST00000359671854123862162563542162565374063424512651326
ENST00000359671854123862162529342162530244246433513261356
ENST00000359671854123862162514112162516814336460513561446
ENST00000359671854123862162480502162482064888504315401592
ENST00000359671854123862162469342162470485044515715921630
ENST00000359671854123862162455332162458035158542716301720
ENST00000359671854123862162403512162404415881597018711901
ENST00000359671854123862162399362162401165971615019011961
ENST00000359671854123862162325852162327506847701121932248
ENST00000359671854123862162302272162303537012713722482290
ENST00000359671854123862162266912162268027245735523262363

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


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


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SNVs in the skipped exons for FN1

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.
FN1_COAD_exon_skip_346508_psi_boxplot.png
boxplot
FN1_LIHC_exon_skip_346508_psi_boxplot.png
boxplot
FN1_LIHC_exon_skip_346522_psi_boxplot.png
boxplot
FN1_LIHC_exon_skip_346537_psi_boxplot.png
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FN1_SKCM_exon_skip_346500_psi_boxplot.png
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FN1_SKCM_exon_skip_346522_psi_boxplot.png
boxplot
FN1_SKCM_exon_skip_346524_psi_boxplot.png
boxplot
FN1_SKCM_exon_skip_346530_psi_boxplot.png
boxplot
FN1_STAD_exon_skip_346508_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_346449
216230228216230353216230250216230250Frame_Shift_DelT-p.G2375fs
LIHCTCGA-DD-A1EG-01exon_skip_346449
216230228216230353216230250216230250Frame_Shift_DelT-p.K2374fs
LIHCTCGA-DD-A39Y-01exon_skip_346449
216230228216230353216230290216230290Frame_Shift_DelT-p.N2361fs
UCECTCGA-D1-A101-01exon_skip_346475
216236632216236738216236721216236722Frame_Shift_DelGA-p.Q2209fs
UCECTCGA-D1-A101-01exon_skip_346475
216236632216236738216236721216236722Frame_Shift_DelGA-p.S2208fs
UCECTCGA-D1-A174-01exon_skip_346475
216236632216236738216236721216236722Frame_Shift_DelGA-p.Q2209fs
UCECTCGA-D1-A174-01exon_skip_346475
216236632216236738216236721216236722Frame_Shift_DelGA-p.S2208fs
LIHCTCGA-DD-A1EG-01exon_skip_346491
216236832216237023216237011216237011Frame_Shift_DelG-p.P2112fs
LIHCTCGA-DD-A1EG-01exon_skip_346493
216236832216237098216237011216237011Frame_Shift_DelG-p.P2112fs
LIHCTCGA-DD-A3A0-01exon_skip_346493
216236832216237098216237041216237041Frame_Shift_DelA-p.L2102fs
COADTCGA-CK-5913-01exon_skip_346508
216245534216245803216245555216245555Frame_Shift_DelG-p.L1714fs
LIHCTCGA-DD-A39Y-01exon_skip_346508
216245534216245803216245724216245724Frame_Shift_DelC-p.G1748fs
LIHCTCGA-DD-A3A0-01exon_skip_346522
216248051216248206216248063216248063Frame_Shift_DelT-p.T1680fs
LIHCTCGA-DD-A39Y-01exon_skip_346522
216248051216248206216248069216248069Frame_Shift_DelT-p.T1678fs
LIHCTCGA-DD-A3A0-01exon_skip_346522
216248051216248206216248069216248069Frame_Shift_DelT-p.T1678fs
LIHCTCGA-G3-A3CJ-01exon_skip_346522
216248051216248206216248069216248069Frame_Shift_DelT-p.T1678fs
LIHCTCGA-DD-A1EG-01exon_skip_346537
216257654216257926216257742216257742Frame_Shift_DelC-p.G1327fs
LIHCTCGA-DD-A3A0-01exon_skip_346537
216257654216257926216257857216257857Frame_Shift_DelG-p.P1289fs
LIHCTCGA-DD-A3A0-01exon_skip_346539
216273021216273149216273047216273047Frame_Shift_DelA-p.L801fs
LIHCTCGA-DD-A39Y-01exon_skip_346541
216274286216274462216274306216274306Frame_Shift_DelC-p.G760fs
LIHCTCGA-G3-A3CJ-01exon_skip_346549
216285396216285524216285425216285425Frame_Shift_DelC-p.G549fs
LIHCTCGA-DD-A39Y-01exon_skip_346554
216296556216296687216296669216296669Frame_Shift_DelC-p.G145fs
COADTCGA-A6-2671-01exon_skip_346558
216298047216298184216298127216298130Frame_Shift_DelTAAG-p.111_112del
LIHCTCGA-DD-A39Y-01exon_skip_346558
216298047216298184216298136216298136Frame_Shift_DelC-p.G109fs
SKCMTCGA-BF-A1Q0-01exon_skip_346519
exon_skip_346511
216246935216247048216246963216246964Frame_Shift_Ins-CTp.S1621fs
SKCMTCGA-BF-A1Q0-01exon_skip_346519
exon_skip_346511
216246935216247048216246963216246964Frame_Shift_Ins-CTp.T1712fs
COADTCGA-D5-6930-01exon_skip_346532
216256355216256537216256461216256462Frame_Shift_Ins-Gp.P1291fs
SKCMTCGA-OD-A75X-06exon_skip_346524
216251412216251681216251618216251618Nonsense_MutationCTp.W1469*
STADTCGA-BR-6452-01exon_skip_346539
216273021216273149216273076216273076Nonsense_MutationATp.Y791*
STADTCGA-BR-6452-01exon_skip_346539
216273021216273149216273076216273076Nonsense_MutationATp.Y791X
COADTCGA-AZ-4315-01exon_skip_346544
216274657216274837216274708216274708Nonsense_MutationCAp.E691X
THYMTCGA-XU-A92T-01exon_skip_346548
216283965216284108216283987216283987Nonsense_MutationGTp.C599*
THYMTCGA-XU-A92T-01exon_skip_346548
216283965216284108216283987216283987Nonsense_MutationGTp.C599X
BLCATCGA-XF-A9T6-01exon_skip_346548
216283965216284108216284073216284073Nonsense_MutationGAp.Q571*
ESCATCGA-L5-A8NS-01exon_skip_346549
216285396216285524216285436216285436Nonsense_MutationGTp.C545*
ESCATCGA-L5-A8NS-01exon_skip_346549
216285396216285524216285436216285436Nonsense_MutationGTp.C545X
LUADTCGA-95-7947-01exon_skip_346550
216286814216286966216286823216286823Nonsense_MutationGAp.Q513*
UCECTCGA-D1-A17Q-01exon_skip_346554
216296556216296687216296577216296577Nonsense_MutationCAp.E176*
LUSCTCGA-43-6143-01exon_skip_346554
216296556216296687216296609216296609Nonsense_MutationACp.L165*
UCECTCGA-A5-A0VP-01exon_skip_346449
216230228216230353216230227216230227Splice_SiteCTe43+1
SKCMTCGA-D3-A3MR-06exon_skip_346500
216239937216240116216239936216239936Splice_SiteCT.
STADTCGA-BR-6452-01exon_skip_346508
216245534216245803216245532216245532Splice_SiteAT.
STADTCGA-BR-6452-01exon_skip_346508
216245534216245803216245532216245532Splice_SiteATp.A1812_splice
SKCMTCGA-D3-A51G-06exon_skip_346522
216248051216248206216248207216248207Splice_SiteCA.
SKCMTCGA-EE-A3J4-06exon_skip_346530
216252935216253024216253025216253025Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
FN1_216256354_216256537_216257653_216257926_216259250_216259442_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_346449
Skipped exon start: 216230228
Skipped exon end: 216230353
Mutation start: 216230250
Mutation end: 216230250
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.G2375fs
FN1_216256354_216256537_216257653_216257926_216259250_216259442_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_346449
Skipped exon start: 216230228
Skipped exon end: 216230353
Mutation start: 216230250
Mutation end: 216230250
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K2374fs
FN1_216256354_216256537_216257653_216257926_216259250_216259442_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_346491
Skipped exon start: 216236832
Skipped exon end: 216237023
Mutation start: 216237011
Mutation end: 216237011
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P2112fs
FN1_216256354_216256537_216257653_216257926_216259250_216259442_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_346493
Skipped exon start: 216236832
Skipped exon end: 216237098
Mutation start: 216237011
Mutation end: 216237011
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P2112fs
FN1_216256354_216256537_216257653_216257926_216259250_216259442_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_346537
Skipped exon start: 216257654
Skipped exon end: 216257926
Mutation start: 216257742
Mutation end: 216257742
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G1327fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png
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FN1_216251411_216251681_216252934_216253024_216256354_216256537_TCGA-EE-A3J4-06Sample: TCGA-EE-A3J4-06
Cancer type: SKCM
ESID: exon_skip_346530
Skipped exon start: 216252935
Skipped exon end: 216253024
Mutation start: 216253025
Mutation end: 216253025
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: .
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FN1_216249582_216249699_216251411_216251681_216252934_216253023_TCGA-OD-A75X-06Sample: TCGA-OD-A75X-06
Cancer type: SKCM
ESID: exon_skip_346524
Skipped exon start: 216251412
Skipped exon end: 216251681
Mutation start: 216251618
Mutation end: 216251618
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.W1469*
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FN1_216246934_216247048_216248050_216248206_216248742_216248803_TCGA-D3-A51G-06Sample: TCGA-D3-A51G-06
Cancer type: SKCM
ESID: exon_skip_346522
Skipped exon start: 216248051
Skipped exon end: 216248206
Mutation start: 216248207
Mutation end: 216248207
Mutation type: Splice_Site
Reference seq: C
Mutation seq: A
AAchange: .
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FN1_216246934_216247048_216248050_216248206_216248742_216248803_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346449
Skipped exon start: 216230228
Skipped exon end: 216230353
Mutation start: 216230290
Mutation end: 216230290
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.N2361fs
FN1_216246934_216247048_216248050_216248206_216248742_216248803_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346508
Skipped exon start: 216245534
Skipped exon end: 216245803
Mutation start: 216245724
Mutation end: 216245724
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G1748fs
FN1_216246934_216247048_216248050_216248206_216248742_216248803_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346522
Skipped exon start: 216248051
Skipped exon end: 216248206
Mutation start: 216248069
Mutation end: 216248069
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.T1678fs
FN1_216246934_216247048_216248050_216248206_216248742_216248803_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346541
Skipped exon start: 216274286
Skipped exon end: 216274462
Mutation start: 216274306
Mutation end: 216274306
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G760fs
FN1_216246934_216247048_216248050_216248206_216248742_216248803_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346554
Skipped exon start: 216296556
Skipped exon end: 216296687
Mutation start: 216296669
Mutation end: 216296669
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G145fs
FN1_216246934_216247048_216248050_216248206_216248742_216248803_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346558
Skipped exon start: 216298047
Skipped exon end: 216298184
Mutation start: 216298136
Mutation end: 216298136
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G109fs
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FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-BR-6452-01Sample: TCGA-BR-6452-01
Cancer type: STAD
ESID: exon_skip_346539
Skipped exon start: 216273021
Skipped exon end: 216273149
Mutation start: 216273076
Mutation end: 216273076
Mutation type: Nonsense_Mutation
Reference seq: A
Mutation seq: T
AAchange: p.Y791X
FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-BR-6452-01Sample: TCGA-BR-6452-01
Cancer type: STAD
ESID: exon_skip_346539
Skipped exon start: 216273021
Skipped exon end: 216273149
Mutation start: 216273076
Mutation end: 216273076
Mutation type: Nonsense_Mutation
Reference seq: A
Mutation seq: T
AAchange: p.Y791*
FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-BR-6452-01Sample: TCGA-BR-6452-01
Cancer type: STAD
ESID: exon_skip_346508
Skipped exon start: 216245534
Skipped exon end: 216245803
Mutation start: 216245532
Mutation end: 216245532
Mutation type: Splice_Site
Reference seq: A
Mutation seq: T
AAchange: .
FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-BR-6452-01Sample: TCGA-BR-6452-01
Cancer type: STAD
ESID: exon_skip_346508
Skipped exon start: 216245534
Skipped exon end: 216245803
Mutation start: 216245532
Mutation end: 216245532
Mutation type: Splice_Site
Reference seq: A
Mutation seq: T
AAchange: p.A1812_splice
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FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-CK-5913-01Sample: TCGA-CK-5913-01
Cancer type: COAD
ESID: exon_skip_346508
Skipped exon start: 216245534
Skipped exon end: 216245803
Mutation start: 216245555
Mutation end: 216245555
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.L1714fs
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FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346449
Skipped exon start: 216230228
Skipped exon end: 216230353
Mutation start: 216230290
Mutation end: 216230290
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.N2361fs
FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346508
Skipped exon start: 216245534
Skipped exon end: 216245803
Mutation start: 216245724
Mutation end: 216245724
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G1748fs
FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346522
Skipped exon start: 216248051
Skipped exon end: 216248206
Mutation start: 216248069
Mutation end: 216248069
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.T1678fs
FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346541
Skipped exon start: 216274286
Skipped exon end: 216274462
Mutation start: 216274306
Mutation end: 216274306
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G760fs
FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346554
Skipped exon start: 216296556
Skipped exon end: 216296687
Mutation start: 216296669
Mutation end: 216296669
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G145fs
FN1_216243927_216244040_216245533_216245803_216246934_216247048_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_346558
Skipped exon start: 216298047
Skipped exon end: 216298184
Mutation start: 216298136
Mutation end: 216298136
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G109fs
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FN1_216238044_216238134_216239936_216240116_216240351_216240412_TCGA-D3-A3MR-06Sample: TCGA-D3-A3MR-06
Cancer type: SKCM
ESID: exon_skip_346500
Skipped exon start: 216239937
Skipped exon end: 216240116
Mutation start: 216239936
Mutation end: 216239936
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: .
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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_TRACT216235017216235155216235149216235150Frame_Shift_DelCC-p.RV2149fs
BICR18_UPPER_AERODIGESTIVE_TRACT216236832216237023216236950216236956Frame_Shift_DelACCAGAA-p.TSG2039fs
BICR18_UPPER_AERODIGESTIVE_TRACT216236832216237098216236950216236956Frame_Shift_DelACCAGAA-p.TSG2039fs
PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216248051216248206216248175216248175Frame_Shift_DelG-p.T1551fs
BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216248051216248206216248175216248175Frame_Shift_DelG-p.T1551fs
BICR18_UPPER_AERODIGESTIVE_TRACT216235017216235155216235152216235153Frame_Shift_Ins-TGp.R2149fs
BICR18_UPPER_AERODIGESTIVE_TRACT216236832216237023216236956216236957Frame_Shift_Ins-GTGGGTTp.-2039fs
BICR18_UPPER_AERODIGESTIVE_TRACT216236832216237098216236956216236957Frame_Shift_Ins-GTGGGTTp.-2039fs
PK45H_PANCREAS216245534216245803216245789216245790Frame_Shift_Ins-Ap.K1636fs
MDAPCA2B_PROSTATE216230228216230353216230338216230338Missense_MutationTCp.N2254S
PANC0813_PANCREAS216232586216232750216232606216232606Missense_MutationTCp.H2242R
SNU81_LARGE_INTESTINE216232586216232750216232615216232615Missense_MutationCTp.G2239E
HEC151_ENDOMETRIUM216232586216232750216232682216232682Missense_MutationCTp.V2217I
HCC2450_LUNG216235017216235155216235019216235019Missense_MutationGCp.S2193C
NCIH1373_LUNG216235017216235155216235019216235019Missense_MutationGCp.S2193C
T84_LARGE_INTESTINE216236832216237023216236898216236898Missense_MutationGAp.R2059W
T84_LARGE_INTESTINE216236832216237098216236898216236898Missense_MutationGAp.R2059W
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216236832216237023216236984216236984Missense_MutationGCp.T2030S
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216236832216237098216236984216236984Missense_MutationGCp.T2030S
SNU1040_LARGE_INTESTINE216236832216237023216237005216237005Missense_MutationAGp.V2023A
SNU1040_LARGE_INTESTINE216236832216237098216237005216237005Missense_MutationAGp.V2023A
HEC251_ENDOMETRIUM216236832216237023216237016216237016Missense_MutationCAp.K2019N
HEC251_ENDOMETRIUM216236832216237098216237016216237016Missense_MutationCAp.K2019N
NEC8_TESTIS216239937216240116216239966216239966Missense_MutationCTp.R1952H
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216239937216240116216240039216240039Missense_MutationCAp.A1928S
LU165_LUNG216239937216240116216240064216240064Missense_MutationCAp.L1919F
SNU81_LARGE_INTESTINE216240352216240441216240385216240385Missense_MutationGAp.R1891W
HKA1_SKIN216240352216240441216240421216240421Missense_MutationAGp.Y1879H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216245534216245803216245545216245545Missense_MutationGAp.T1717I
BICR18_UPPER_AERODIGESTIVE_TRACT216245534216245803216245545216245545Missense_MutationGAp.T1717I
JHU011_UPPER_AERODIGESTIVE_TRACT216245534216245803216245577216245577Missense_MutationGTp.H1706Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216245534216245803216245673216245674Missense_MutationATCCp.H1674R
BICR18_UPPER_AERODIGESTIVE_TRACT216245534216245803216245673216245674Missense_MutationATCCp.H1674R
HEC251_ENDOMETRIUM216245534216245803216245743216245743Missense_MutationGTp.A1651D
A101D_SKIN216245534216245803216245752216245752Missense_MutationACp.I1648S
NCIH1435_LUNG216245534216245803216245759216245759Missense_MutationCTp.D1646N
COLO684_ENDOMETRIUM216245534216245803216245779216245779Missense_MutationGAp.A1639V
COLO704_OVARY216245534216245803216245779216245779Missense_MutationGAp.A1639V
NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216245534216245803216245792216245792Missense_MutationGTp.P1635T
OC316_OVARY216245534216245803216245794216245794Missense_MutationCTp.R1634H
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216245534216245803216245794216245794Missense_MutationCTp.R1634H
OC314_OVARY216245534216245803216245794216245794Missense_MutationCTp.R1634H
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216246935216247048216246944216246944Missense_MutationCTp.A1628T
RVH421_SKIN216246935216247048216246970216246970Missense_MutationCTp.G1619E
SKOV3_OVARY216248051216248206216248054216248054Missense_MutationGAp.P1592S
NCIH630_LARGE_INTESTINE216248051216248206216248195216248195Missense_MutationGAp.P1545S
NCIH187_LUNG216251412216251681216251460216251460Missense_MutationGCp.L1431V
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216251412216251681216251466216251466Missense_MutationCTp.V1429I
HCT116_LARGE_INTESTINE216251412216251681216251522216251522Missense_MutationCTp.R1410Q
SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216251412216251681216251565216251565Missense_MutationGTp.H1396N
CW2_LARGE_INTESTINE216251412216251681216251643216251643Missense_MutationTCp.T1370A
BT12_SOFT_TISSUE216251412216251681216251672216251672Missense_MutationGAp.S1360F
HT115_LARGE_INTESTINE216252935216253024216252977216252977Missense_MutationCTp.E1343K
BICR18_UPPER_AERODIGESTIVE_TRACT216252935216253024216253001216253001Missense_MutationCAp.V1335L
CW2_LARGE_INTESTINE216256355216256537216256456216256456Missense_MutationAGp.I1293T
SNU1040_LARGE_INTESTINE216256355216256537216256483216256483Missense_MutationCTp.R1284H
RMUGS_OVARY216256355216256537216256484216256484Missense_MutationGAp.R1284C
RCCMF_KIDNEY216256355216256537216256496216256496Missense_MutationGCp.P1280A
TE5_OESOPHAGUS216273021216273149216273102216273102Missense_MutationCTp.G783S
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216273021216273149216273134216273134Missense_MutationGAp.A772V
HCC1428_BREAST216273021216273149216273147216273147Missense_MutationGTp.L768I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216274286216274462216274343216274343Missense_MutationAGp.S748P
MCC13_SKIN216274286216274462216274348216274348Missense_MutationGAp.T746I
NB6_AUTONOMIC_GANGLIA216274286216274462216274373216274373Missense_MutationCTp.V738I
KP4_PANCREAS216274657216274837216274783216274783Missense_MutationAGp.Y666H
GAK_SKIN216274657216274837216274816216274817Missense_MutationTCGAp.654_655WK>CQ
HCC2998_LARGE_INTESTINE216274657216274837216274835216274835Missense_MutationTGp.K648N
DKMG_CENTRAL_NERVOUS_SYSTEM216283965216284108216283976216283976Missense_MutationTCp.Q603R
KS1_CENTRAL_NERVOUS_SYSTEM216283965216284108216284000216284000Missense_MutationCAp.G595V
OVTOKO_OVARY216283965216284108216284001216284001Missense_MutationCTp.G595R
HEC108_ENDOMETRIUM216283965216284108216284036216284036Missense_MutationAGp.V583A
NCIH508_LARGE_INTESTINE216283965216284108216284102216284102Missense_MutationCTp.C561Y
SW684_SOFT_TISSUE216285396216285524216285401216285401Missense_MutationGAp.P557L
JHUEM2_ENDOMETRIUM216285396216285524216285459216285459Missense_MutationCGp.G538R
MM383_SKIN216285396216285524216285470216285470Missense_MutationCTp.R534H
2313287_STOMACH216285396216285524216285471216285471Missense_MutationGAp.R534C
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216285396216285524216285471216285471Missense_MutationGAp.R534C
JHUEM1_ENDOMETRIUM216286814216286966216286852216286852Missense_MutationCTp.R503H
HT115_LARGE_INTESTINE216286814216286966216286924216286924Missense_MutationCTp.R479H
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216286814216286966216286924216286924Missense_MutationCTp.R479H
HEC251_ENDOMETRIUM216286814216286966216286956216286956Missense_MutationTGp.E468D
KM12_LARGE_INTESTINE216298047216298184216298050216298050Missense_MutationCTp.A138T
SNU1040_LARGE_INTESTINE216298047216298184216298083216298083Missense_MutationCTp.G127R
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216298047216298184216298142216298142Missense_MutationCGp.R107P
BICR18_UPPER_AERODIGESTIVE_TRACT216298047216298184216298142216298142Missense_MutationCTp.R107Q
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216235017216235155216235053216235053Nonsense_MutationTAp.K2182*
HEC59_ENDOMETRIUM216239937216240116216240053216240053Nonsense_MutationCTp.W1923*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216248051216248206216248142216248142Nonsense_MutationCTp.W1562*
A101D_SKIN216251412216251681216251587216251587Nonsense_MutationGTp.Y1388*
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE216256355216256537216256514216256514Nonsense_MutationGAp.R1274*
SNU175_LARGE_INTESTINE216230228216230353216230228216230228Splice_SiteGAp.H2291Y
KYSE270_OESOPHAGUS216232586216232750216232749216232749Splice_SiteGAp.V2194V
KATOIII_STOMACH216273021216273149216273149216273149Splice_SiteTCp.D767G
BICR18_UPPER_AERODIGESTIVE_TRACT216296556216296687216296686216296686Splice_SiteGAp.N139N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FN1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1CESCrs2289202chr2:216298084G/A5.68e-04
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1BRCArs2289202chr2:216298084G/A2.67e-07
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1BRCArs2289202chr2:216298084G/A2.71e-07
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1KIRCrs2289202chr2:216298084G/A4.83e-06
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1KIRCrs2289202chr2:216298084G/A4.91e-06
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1THCArs2289202chr2:216298084G/A1.44e-03
exon_skip_3465582216296555:216296687:216298046:216298184:216299418:216299547216298046:216298184ENST00000443816.1,ENST00000346544.3,ENST00000432072.2,ENST00000426059.1,ENST00000323926.6,ENST00000356005.4,ENST00000336916.4,ENST00000357867.4,ENST00000357009.2,ENST00000345488.5,ENST00000421182.1,ENST00000359671.1,ENST00000354785.4,ENST00000446046.1THCArs2289202chr2:216298084G/A1.50e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FN1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FN1


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RelatedDrugs for FN1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P02751DB08888OcriplasminFibronectinbiotechapproved
P02751DB01593ZincFibronectinsmall moleculeapproved|investigational
P02751DB14487Zinc acetateFibronectinsmall moleculeapproved|investigational
P02751DB14533Zinc chlorideFibronectinsmall moleculeapproved|investigational

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RelatedDiseases for FN1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
FN1C0020538Hypertensive disease2CTD_human;HPO
FN1C0000786Spontaneous abortion1CTD_human
FN1C0003504Aortic Valve Insufficiency1CTD_human
FN1C0007621Neoplastic Cell Transformation1CTD_human
FN1C0010346Crohn Disease1CTD_human
FN1C0011849Diabetes Mellitus1CTD_human
FN1C0011881Diabetic Nephropathy1CTD_human
FN1C0017636Glioblastoma1CTD_human
FN1C0017668Focal glomerulosclerosis1CTD_human
FN1C0024667Animal Mammary Neoplasms1CTD_human
FN1C0024668Mammary Neoplasms, Experimental1CTD_human
FN1C0027626Neoplasm Invasiveness1CTD_human
FN1C0034069Pulmonary Fibrosis1CTD_human
FN1C0036341Schizophrenia1PSYGENET
FN1C0085762Alcohol abuse1PSYGENET
FN1C0149721Left Ventricular Hypertrophy1CTD_human
FN1C0345967Malignant mesothelioma1CTD_human
FN1C1458155Mammary Neoplasms1CTD_human
FN1C1866075GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)1UNIPROT