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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 FAT1

check button Gene summary
Gene informationGene symbol

FAT1

Gene ID

2195

Gene nameFAT atypical cadherin 1
SynonymsCDHF7|CDHR8|FAT|ME5|hFat1
Cytomap

4q35.2

Type of geneprotein-coding
Descriptionprotocadherin Fat 1FAT tumor suppressor 1cadherin ME5cadherin family member 7cadherin-related family member 8cadherin-related tumor suppressor homologprotein fat homolog
Modification date20180519
UniProtAcc

Q14517

ContextPubMed: FAT1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for FAT1 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 FAT1

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 FAT1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4335144187510225:187510374:187511521:187511557:187516842:187516899187511521:187511557ENSG00000083857.9ENST00000512772.1
exon_skip_4335164187510225:187510374:187511658:187511849:187516842:187516899187511658:187511849ENSG00000083857.9ENST00000509537.1
exon_skip_4335194187510225:187510374:187516842:187516980:187517693:187517995187516842:187516980ENSG00000083857.9ENST00000441802.2,ENST00000500085.2
exon_skip_4335274187511521:187511557:187513846:187513906:187516842:187516899187513846:187513906ENSG00000083857.9ENST00000509927.1
exon_skip_4335364187516842:187516980:187517693:187518325:187518835:187518946187517693:187518325ENSG00000083857.9ENST00000441802.2
exon_skip_4335384187516842:187516980:187518187:187518325:187518835:187518946187518187:187518325ENSG00000083857.9ENST00000507105.1
exon_skip_4335404187538158:187538355:187538861:187542929:187549307:187549518187538861:187542929ENSG00000083857.9ENST00000441802.2
exon_skip_4335424187557178:187557389:187557738:187558068:187560875:187560937187557738:187558068ENSG00000083857.9ENST00000441802.2
exon_skip_4335434187560875:187560937:187584452:187584767:187627716:187630999187584452:187584767ENSG00000083857.9ENST00000441802.2

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

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Exon skipping events with PSIs in GTEx for FAT1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4335144187510225:187510374:187511521:187511557:187516842:187516899187511521:187511557ENSG00000083857.9ENST00000512772.1
exon_skip_4335164187510225:187510374:187511658:187511849:187516842:187516899187511658:187511849ENSG00000083857.9ENST00000509537.1
exon_skip_4335194187510225:187510374:187516842:187516980:187517693:187517995187516842:187516980ENSG00000083857.9ENST00000441802.2,ENST00000500085.2
exon_skip_4335274187511521:187511557:187513846:187513906:187516842:187516899187513846:187513906ENSG00000083857.9ENST00000509927.1
exon_skip_4335364187516842:187516980:187517693:187518325:187518835:187518946187517693:187518325ENSG00000083857.9ENST00000441802.2
exon_skip_4335384187516842:187516980:187518187:187518325:187518835:187518946187518187:187518325ENSG00000083857.9ENST00000507105.1
exon_skip_4335404187538158:187538355:187538861:187542929:187549307:187549518187538861:187542929ENSG00000083857.9ENST00000441802.2
exon_skip_4335424187557178:187557389:187557738:187558068:187560875:187560937187557738:187558068ENSG00000083857.9ENST00000441802.2
exon_skip_4335434187560875:187560937:187584452:187584767:187627716:187630999187584452:187584767ENSG00000083857.9ENST00000441802.2

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 FAT1

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
ENST00000441802187517693187518325Frame-shift
ENST00000441802187516842187516980In-frame
ENST00000441802187538861187542929In-frame
ENST00000441802187557738187558068In-frame
ENST00000441802187584452187584767In-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
ENST00000441802187517693187518325Frame-shift
ENST00000441802187516842187516980In-frame
ENST00000441802187538861187542929In-frame
ENST00000441802187557738187558068In-frame
ENST00000441802187584452187584767In-frame

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Infer the effects of exon skipping event on protein functional features for FAT1

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
ENST000004418021480345881875844521875847673476379010881193
ENST000004418021480345881875577381875580683853418212141324
ENST000004418021480345881875388611875429295021908816032959
ENST00000441802148034588187516842187516980132111334843334379

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
ENST000004418021480345881875844521875847673476379010881193
ENST000004418021480345881875577381875580683853418212141324
ENST000004418021480345881875388611875429295021908816032959
ENST00000441802148034588187516842187516980132111334843334379

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
Q1451710881193224588ChainID=PRO_0000004017;Note=Protocadherin Fat 1
Q145171088119310351139DomainNote=Cadherin 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171088119311401245DomainNote=Cadherin 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171088119311471147Natural variantID=VAR_080733;Note=Found in a patient with spinocerebellar ataxia%3B unknown pathological significance. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29053796;Dbxref=PMID:29053796
Q1451710881193224181Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1451712141324224588ChainID=PRO_0000004017;Note=Protocadherin Fat 1
Q145171214132411401245DomainNote=Cadherin 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171214132412461357DomainNote=Cadherin 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171214132412731273Sequence conflictNote=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1451712141324224181Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1451716032959224588ChainID=PRO_0000004017;Note=Protocadherin Fat 1
Q145171603295915631667DomainNote=Cadherin 14;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295916681765DomainNote=Cadherin 15;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295917661879DomainNote=Cadherin 16;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295918801979DomainNote=Cadherin 17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295919802081DomainNote=Cadherin 18;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295920822182DomainNote=Cadherin 19;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295921832283DomainNote=Cadherin 20;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295922842390DomainNote=Cadherin 21;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295923912492DomainNote=Cadherin 22;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295924932596DomainNote=Cadherin 23;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295925972703DomainNote=Cadherin 24;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295927042809DomainNote=Cadherin 25;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295928102918DomainNote=Cadherin 26;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295929193023DomainNote=Cadherin 27;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295917481748GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295918641864GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295919021902GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295919401940GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295919911991GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295923252325GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295924642464GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295916051605Natural variantID=VAR_055593;Note=N->D;Dbxref=dbSNP:rs6836935
Q145171603295919301930Natural variantID=VAR_080734;Note=Found in a patient with spinocerebellar ataxia%3B unknown pathological significance. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29053796;Dbxref=PMID:29053796
Q145171603295916041604Sequence conflictNote=G->GNIG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295920062006Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295920542054Sequence conflictNote=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295923852385Sequence conflictNote=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295926182619Sequence conflictNote=VL->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295927182718Sequence conflictNote=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1451716032959224181Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1451743334379224588ChainID=PRO_0000004017;Note=Protocadherin Fat 1
Q145174333437943784382MotifNote=PTB-like motif;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q145174333437942034588Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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
Q1451710881193224588ChainID=PRO_0000004017;Note=Protocadherin Fat 1
Q145171088119310351139DomainNote=Cadherin 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171088119311401245DomainNote=Cadherin 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171088119311471147Natural variantID=VAR_080733;Note=Found in a patient with spinocerebellar ataxia%3B unknown pathological significance. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29053796;Dbxref=PMID:29053796
Q1451710881193224181Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1451712141324224588ChainID=PRO_0000004017;Note=Protocadherin Fat 1
Q145171214132411401245DomainNote=Cadherin 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171214132412461357DomainNote=Cadherin 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171214132412731273Sequence conflictNote=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1451712141324224181Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1451716032959224588ChainID=PRO_0000004017;Note=Protocadherin Fat 1
Q145171603295915631667DomainNote=Cadherin 14;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295916681765DomainNote=Cadherin 15;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295917661879DomainNote=Cadherin 16;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295918801979DomainNote=Cadherin 17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295919802081DomainNote=Cadherin 18;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295920822182DomainNote=Cadherin 19;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295921832283DomainNote=Cadherin 20;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295922842390DomainNote=Cadherin 21;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295923912492DomainNote=Cadherin 22;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295924932596DomainNote=Cadherin 23;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295925972703DomainNote=Cadherin 24;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295927042809DomainNote=Cadherin 25;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295928102918DomainNote=Cadherin 26;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295929193023DomainNote=Cadherin 27;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
Q145171603295917481748GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295918641864GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295919021902GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295919401940GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295919911991GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295923252325GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295924642464GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q145171603295916051605Natural variantID=VAR_055593;Note=N->D;Dbxref=dbSNP:rs6836935
Q145171603295919301930Natural variantID=VAR_080734;Note=Found in a patient with spinocerebellar ataxia%3B unknown pathological significance. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29053796;Dbxref=PMID:29053796
Q145171603295916041604Sequence conflictNote=G->GNIG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295920062006Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295920542054Sequence conflictNote=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295923852385Sequence conflictNote=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295926182619Sequence conflictNote=VL->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q145171603295927182718Sequence conflictNote=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1451716032959224181Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1451743334379224588ChainID=PRO_0000004017;Note=Protocadherin Fat 1
Q145174333437943784382MotifNote=PTB-like motif;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q145174333437942034588Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for FAT1

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-A39Y-01exon_skip_433519
187516843187516980187516880187516880Frame_Shift_DelA-p.S4367fs
LIHCTCGA-DD-A3A1-01exon_skip_433519
187516843187516980187516921187516921Frame_Shift_DelG-p.Q4354fs
COADTCGA-A6-5665-01exon_skip_433536
187517694187518325187517756187517756Frame_Shift_DelG-p.P4313fs
HNSCTCGA-CN-5369-01exon_skip_433536
187517694187518325187517815187517815Frame_Shift_DelG-p.H4293fs
LIHCTCGA-G3-A3CJ-01exon_skip_433536
187517694187518325187518070187518070Frame_Shift_DelC-p.R4208fs
LUADTCGA-44-2668-01exon_skip_433536
187517694187518325187518096187518096Frame_Shift_DelC-p.V4200fs
LIHCTCGA-DD-A39Y-01exon_skip_433536
187517694187518325187518218187518218Frame_Shift_DelC-p.G4159fs
LIHCTCGA-DD-A39Y-01exon_skip_433538
187518188187518325187518218187518218Frame_Shift_DelC-p.G4159fs
COADTCGA-AD-5900-01exon_skip_433540
187538862187542929187538941187538941Frame_Shift_DelT-p.G2934fs
LIHCTCGA-G3-A3CJ-01exon_skip_433540
187538862187542929187539062187539062Frame_Shift_DelC-p.G2893fs
LIHCTCGA-DD-A39Y-01exon_skip_433540
187538862187542929187539144187539144Frame_Shift_DelT-p.T2866fs
LIHCTCGA-DD-A1EG-01exon_skip_433540
187538862187542929187539266187539266Frame_Shift_DelC-p.G2825fs
BLCATCGA-ZF-AA5N-01exon_skip_433540
187538862187542929187539279187539300Frame_Shift_DelTTTCAACAATGAATGCCTCATA-p.YEAFIVEN2814fs
KIRPTCGA-J7-8537-01exon_skip_433540
187538862187542929187539365187539365Frame_Shift_DelG-p.S2792fs
HNSCTCGA-CV-7252-01exon_skip_433540
187538862187542929187539457187539469Frame_Shift_DelCTTCAGTCTCCCG-p.S2757fs
HNSCTCGA-CV-7252-01exon_skip_433540
187538862187542929187539457187539469Frame_Shift_DelCTTCAGTCTCCCG-p.SGRLK2757fs
ACCTCGA-OR-A5LJ-01exon_skip_433540
187538862187542929187539571187539574Frame_Shift_DelATCT-p.ID2722fs
BLCATCGA-CU-A3YL-01exon_skip_433540
187538862187542929187539870187539870Frame_Shift_DelC-p.D2624fs
KIRPTCGA-BQ-5885-01exon_skip_433540
187538862187542929187540288187540291Frame_Shift_DelTCCA-p.2484_2485del
KIRPTCGA-BQ-5885-01exon_skip_433540
187538862187542929187540288187540291Frame_Shift_DelTCCA-p.I2483fs
KIRPTCGA-BQ-5885-01exon_skip_433540
187538862187542929187540288187540291Frame_Shift_DelTCCA-p.IG2483fs
HNSCTCGA-IQ-A61E-01exon_skip_433540
187538862187542929187540420187540426Frame_Shift_DelAATGACA-p.FVI2438fs
LIHCTCGA-DD-A1EG-01exon_skip_433540
187538862187542929187540501187540501Frame_Shift_DelT-p.K2413fs
HNSCTCGA-MT-A67A-01exon_skip_433540
187538862187542929187540557187540557Frame_Shift_DelA-p.Y2395fs
HNSCTCGA-CQ-6218-01exon_skip_433540
187538862187542929187540720187540742Frame_Shift_DelGCCAGTGCTGCTGTCTACATGAA-p.F2333fs
HNSCTCGA-CQ-6218-01exon_skip_433540
187538862187542929187540720187540742Frame_Shift_DelGCCAGTGCTGCTGTCTACATGAA-p.FHVDSSTG2333fs
READTCGA-AG-3731-01exon_skip_433540
187538862187542929187540871187540871Frame_Shift_DelA-p.V2290fs
HNSCTCGA-UF-A7JT-01exon_skip_433540
187538862187542929187540893187540894Frame_Shift_DelAC-p.VF2282fs
KIRCTCGA-B0-4852-01exon_skip_433540
187538862187542929187541085187541109Frame_Shift_DelTGATGCTGTAGAACACTTTCAGGCC-p.2211_2219del
KIRPTCGA-BQ-5877-01exon_skip_433540
187538862187542929187541245187541245Frame_Shift_DelT-p.A2166fs
KIRPTCGA-BQ-5877-01exon_skip_433540
187538862187542929187541245187541245Frame_Shift_DelT-p.S2165fs
STADTCGA-HU-A4G8-01exon_skip_433540
187538862187542929187541247187541247Frame_Shift_DelA-p.S2165fs
STADTCGA-HU-A4G8-01exon_skip_433540
187538862187542929187541247187541247Frame_Shift_DelA-p.S2165X
KIRPTCGA-BQ-5877-01exon_skip_433540
187538862187542929187541250187541250Frame_Shift_DelA-p.F2164fs
LIHCTCGA-DD-A1EG-01exon_skip_433540
187538862187542929187541269187541269Frame_Shift_DelT-p.K2157fs
LIHCTCGA-G3-A3CJ-01exon_skip_433540
187538862187542929187541324187541324Frame_Shift_DelT-p.K2139fs
STADTCGA-HU-A4G8-01exon_skip_433540
187538862187542929187541324187541324Frame_Shift_DelT-p.K2139fs
LIHCTCGA-G3-A3CJ-01exon_skip_433540
187538862187542929187541397187541397Frame_Shift_DelC-p.E2115fs
HNSCTCGA-CN-5366-01exon_skip_433540
187538862187542929187541516187541516Frame_Shift_DelT-p.N2075fs
HNSCTCGA-CV-6942-01exon_skip_433540
187538862187542929187541705187541721Frame_Shift_DelAAAGGCTCATTGATTGG-p.P2007fs
HNSCTCGA-CV-6942-01exon_skip_433540
187538862187542929187541705187541721Frame_Shift_DelAAAGGCTCATTGATTGG-p.PINEPL2007fs
KIRCTCGA-B0-4700-01exon_skip_433540
187538862187542929187541958187541958Frame_Shift_DelA-p.S1928fs
HNSCTCGA-UF-A7JJ-01exon_skip_433540
187538862187542929187542175187542196Frame_Shift_DelTGGGGTTCCCATGTCATGCACT-p.QVHDMGTP1848fs
LUADTCGA-17-Z003-01exon_skip_433540
187538862187542929187542211187542211Frame_Shift_DelA-p.F1843fs
LIHCTCGA-DD-A3A0-01exon_skip_433540
187538862187542929187542551187542551Frame_Shift_DelA-p.L1730fs
LIHCTCGA-DD-A39Y-01exon_skip_433540
187538862187542929187542666187542666Frame_Shift_DelG-p.H1692fs
LIHCTCGA-DD-A1EG-01exon_skip_433540
187538862187542929187542789187542789Frame_Shift_DelT-p.T1651fs
BLCATCGA-DK-A3IQ-01exon_skip_433542
187557739187558068187557747187557747Frame_Shift_DelT-p.I1322fs
KICHTCGA-KN-8436-01exon_skip_433543
187584453187584767187584589187584589Frame_Shift_DelG-p.I1148fs
KICHTCGA-KN-8436-01exon_skip_433543
187584453187584767187584589187584589Frame_Shift_DelG-p.M1149fs
COADTCGA-F4-6570-01exon_skip_433540
187538862187542929187538941187538942Frame_Shift_Ins-Gp.Q2933fs
HNSCTCGA-BA-A6DJ-01exon_skip_433540
187538862187542929187538959187538960Frame_Shift_Ins-Ap.E2927fs
HNSCTCGA-CV-7414-01exon_skip_433540
187538862187542929187539265187539266Frame_Shift_Ins-Cp.E2825fs
HNSCTCGA-CV-7414-01exon_skip_433540
187538862187542929187539265187539266Frame_Shift_Ins-Cp.G2825fs
HNSCTCGA-UF-A7JO-01exon_skip_433540
187538862187542929187539265187539266Frame_Shift_Ins-Cp.E2825fs
LIHCTCGA-BC-A112-01exon_skip_433540
187538862187542929187539633187539634Frame_Shift_Ins-Tp.N2702fs
UCECTCGA-BG-A18B-01exon_skip_433540
187538862187542929187539662187539663Frame_Shift_Ins-Tp.I2693fs
HNSCTCGA-CV-7422-01exon_skip_433540
187538862187542929187540153187540154Frame_Shift_Ins-Tp.S2529fs
HNSCTCGA-CV-7422-01exon_skip_433540
187538862187542929187540153187540154Frame_Shift_Ins-Tp.Y2529fs
CESCTCGA-C5-A1BF-01exon_skip_433540
187538862187542929187540216187540217Frame_Shift_Ins-Tp.H2508fs
GBMTCGA-06-2564-01exon_skip_433540
187538862187542929187541182187541183Frame_Shift_Ins-Ap.F2186fs
BLCATCGA-GV-A3QI-01exon_skip_433540
187538862187542929187541806187541807Frame_Shift_Ins-TTTAGGTGACTp.-1978fs
BLCATCGA-GV-A3QI-01exon_skip_433540
187538862187542929187541806187541807Frame_Shift_Ins-TTTAGGTGACTp.K1978fs
KIRCTCGA-CW-5589-01exon_skip_433540
187538862187542929187541903187541904Frame_Shift_Ins-Tp.S1946fs
HNSCTCGA-BA-4075-01exon_skip_433540
187538862187542929187542087187542088Frame_Shift_Ins-Ap.*S1884fs
HNSCTCGA-F7-8489-01exon_skip_433540
187538862187542929187542091187542092Frame_Shift_Ins-Ap.L1883fs
COADTCGA-G4-6304-01exon_skip_433540
187538862187542929187542109187542110Frame_Shift_Ins-Gp.P1877fs
COADTCGA-G4-6628-01exon_skip_433540
187538862187542929187542109187542110Frame_Shift_Ins-Gp.P1877fs
HNSCTCGA-DQ-5629-01exon_skip_433540
187538862187542929187542674187542675Frame_Shift_Ins-CCp.V1689fs
HNSCTCGA-DQ-5629-01exon_skip_433540
187538862187542929187542674187542675Frame_Shift_Ins-CCp.Y1689fs
HNSCTCGA-CN-5356-01exon_skip_433542
187557739187558068187558038187558039Frame_Shift_Ins-Gp.I1225fs
HNSCTCGA-CN-5356-01exon_skip_433542
187557739187558068187558038187558039Frame_Shift_Ins-Gp.P1224fs
HNSCTCGA-CV-7103-01exon_skip_433536
187517694187518325187517826187517826Nonsense_MutationCAp.E4290*
HNSCTCGA-CR-7390-01exon_skip_433536
187517694187518325187517874187517874Nonsense_MutationCAp.E4274*
LUSCTCGA-22-5472-01exon_skip_433536
187517694187518325187517903187517903Nonsense_MutationGTp.S4264*
LUADTCGA-86-8672-01exon_skip_433536
187517694187518325187518153187518153Nonsense_MutationCAp.E4181*
BLCATCGA-DK-AA6Q-01exon_skip_433536
187517694187518325187518321187518321Nonsense_MutationGAp.Q4125*
BLCATCGA-DK-AA6Q-01exon_skip_433538
187518188187518325187518321187518321Nonsense_MutationGAp.Q4125*
HNSCTCGA-F7-A61S-01exon_skip_433540
187538862187542929187538955187538955Nonsense_MutationCAp.E2929*
UCECTCGA-D1-A17Q-01exon_skip_433540
187538862187542929187538991187538991Nonsense_MutationGAp.R2917*
LUADTCGA-55-7913-01exon_skip_433540
187538862187542929187539051187539051Nonsense_MutationGAp.Q2897*
LUSCTCGA-60-2715-01exon_skip_433540
187538862187542929187539060187539060Nonsense_MutationCAp.E2894*
UCECTCGA-BG-A0MG-01exon_skip_433540
187538862187542929187539091187539091Nonsense_MutationGCp.Y2883*
HNSCTCGA-CN-6012-01exon_skip_433540
187538862187542929187539227187539227Nonsense_MutationGTp.S2838*
HNSCTCGA-CR-7386-01exon_skip_433540
187538862187542929187539227187539227Nonsense_MutationGCp.S2838*
HNSCTCGA-CV-7095-01exon_skip_433540
187538862187542929187539252187539252Nonsense_MutationGAp.Q2830*
HNSCTCGA-CV-6943-01exon_skip_433540
187538862187542929187539417187539417Nonsense_MutationGAp.Q2775*
BLCATCGA-BT-A42B-01exon_skip_433540
187538862187542929187539564187539564Nonsense_MutationGAp.R2726*
HNSCTCGA-BA-6873-01exon_skip_433540
187538862187542929187539564187539564Nonsense_MutationGAp.R2726*
LUADTCGA-17-Z057-01exon_skip_433540
187538862187542929187539602187539602Nonsense_MutationGCp.S2713*
SARCTCGA-DX-A6YR-01exon_skip_433540
187538862187542929187539627187539627Nonsense_MutationCAp.E2705*
LUADTCGA-53-7626-01exon_skip_433540
187538862187542929187539651187539651Nonsense_MutationCAp.E2697*
LUSCTCGA-18-4083-01exon_skip_433540
187538862187542929187539651187539651Nonsense_MutationCAp.E2697*
UCECTCGA-D1-A17M-01exon_skip_433540
187538862187542929187539651187539651Nonsense_MutationCAp.E2697*
UCECTCGA-B5-A11E-01exon_skip_433540
187538862187542929187539690187539690Nonsense_MutationCAp.E2684*
SKCMTCGA-D3-A8GI-06exon_skip_433540
187538862187542929187539951187539951Nonsense_MutationGAp.R2597*
SKCMTCGA-EE-A2GO-06exon_skip_433540
187538862187542929187539951187539951Nonsense_MutationGAp.R2597*
SKCMTCGA-EE-A2GO-06exon_skip_433540
187538862187542929187539951187539951Nonsense_MutationGAp.R2597X
UCECTCGA-AX-A05Z-01exon_skip_433540
187538862187542929187539951187539951Nonsense_MutationGAp.R2597*
UCECTCGA-BS-A0UV-01exon_skip_433540
187538862187542929187539951187539951Nonsense_MutationGAp.R2597*
UCECTCGA-D1-A103-01exon_skip_433540
187538862187542929187539951187539951Nonsense_MutationGAp.R2597*
SKCMTCGA-D3-A8GP-06exon_skip_433540
187538862187542929187540311187540311Nonsense_MutationGAp.Q2477*
BLCATCGA-GC-A3WC-01exon_skip_433540
187538862187542929187540391187540391Nonsense_MutationGCp.S2450*
CESCTCGA-EA-A1QS-01exon_skip_433540
187538862187542929187540391187540391Nonsense_MutationGCp.S2450*
LUSCTCGA-39-5022-01exon_skip_433540
187538862187542929187540391187540391Nonsense_MutationGCp.S2450*
LUSCTCGA-66-2791-01exon_skip_433540
187538862187542929187540391187540391Nonsense_MutationGCp.S2450*
HNSCTCGA-CR-6477-01exon_skip_433540
187538862187542929187540779187540779Nonsense_MutationGAp.Q2321*
HNSCTCGA-CV-7263-01exon_skip_433540
187538862187542929187540845187540845Nonsense_MutationCAp.G2299*
STADTCGA-HU-A4GP-01exon_skip_433540
187538862187542929187541092187541092Nonsense_MutationGTp.Y2216*
STADTCGA-HU-A4GP-01exon_skip_433540
187538862187542929187541092187541092Nonsense_MutationGTp.Y2216X
LUSCTCGA-34-5234-01exon_skip_433540
187538862187542929187541112187541112Nonsense_MutationCAp.E2210*
SKCMTCGA-FR-A3YN-06exon_skip_433540
187538862187542929187541328187541328Nonsense_MutationTAp.K2138*
SKCMTCGA-FR-A3YN-06exon_skip_433540
187538862187542929187541328187541328Nonsense_MutationTAp.K2138X
LUSCTCGA-22-1012-01exon_skip_433540
187538862187542929187541367187541367Nonsense_MutationCAp.E2125*
BLCATCGA-BT-A20O-01exon_skip_433540
187538862187542929187541654187541654Nonsense_MutationGTp.S2029*
HNSCTCGA-CV-7089-01exon_skip_433540
187538862187542929187541760187541760Nonsense_MutationCAp.E1994*
LUSCTCGA-43-3394-01exon_skip_433540
187538862187542929187541799187541799Nonsense_MutationGAp.Q1981*
HNSCTCGA-HD-A633-01exon_skip_433540
187538862187542929187542225187542225Nonsense_MutationCAp.E1839*
UCECTCGA-BS-A0UJ-01exon_skip_433540
187538862187542929187542225187542225Nonsense_MutationCAp.E1839*
HNSCTCGA-BA-A6DI-01exon_skip_433540
187538862187542929187542357187542357Nonsense_MutationGAp.R1795*
UCSTCGA-ND-A4WC-01exon_skip_433540
187538862187542929187542357187542357Nonsense_MutationGAp.R1795*
UCSTCGA-ND-A4WC-01exon_skip_433540
187538862187542929187542357187542357Nonsense_MutationGAp.R1795X
CESCTCGA-LP-A4AW-01exon_skip_433540
187538862187542929187542656187542656Nonsense_MutationGCp.S1695*
HNSCTCGA-CR-6492-01exon_skip_433540
187538862187542929187542660187542660Nonsense_MutationGAp.Q1694*
HNSCTCGA-P3-A6T0-01exon_skip_433540
187538862187542929187542660187542660Nonsense_MutationGAp.Q1694*
READTCGA-F5-6814-01exon_skip_433540
187538862187542929187542729187542729Nonsense_MutationCAp.E1671X
HNSCTCGA-CV-A6JZ-01exon_skip_433540
187538862187542929187542734187542734Nonsense_MutationGCp.S1669*
UCECTCGA-BS-A0TC-01exon_skip_433540
187538862187542929187542795187542795Nonsense_MutationCAp.E1649*
HNSCTCGA-CV-A45Q-01exon_skip_433540
187538862187542929187542861187542861Nonsense_MutationGAp.R1627*
HNSCTCGA-DQ-5631-01exon_skip_433540
187538862187542929187542861187542861Nonsense_MutationGAp.R1627*
UCECTCGA-B5-A11E-01exon_skip_433540
187538862187542929187542861187542861Nonsense_MutationGAp.R1627*
BLCATCGA-GU-AATP-01exon_skip_433540
187538862187542929187542921187542921Nonsense_MutationCAp.G1607*
HNSCTCGA-CN-6989-01exon_skip_433542
187557739187558068187557927187557927Nonsense_MutationGAp.R1262*
LUSCTCGA-22-5472-01exon_skip_433543
187584453187584767187584459187584459Nonsense_MutationTAp.K1192*
UCECTCGA-AX-A0J0-01exon_skip_433543
187584453187584767187584594187584594Nonsense_MutationCAp.E1147*
HNSCTCGA-CQ-6223-01exon_skip_433543
187584453187584767187584693187584693Nonsense_MutationGAp.Q1114*
LUSCTCGA-18-3409-01exon_skip_433543
187584453187584767187584747187584747Nonsense_MutationGAp.R1096*

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
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM187516843187516980187516895187516895Frame_Shift_DelC-p.L4362fs
EFO27_OVARY187517694187518325187517762187517762Frame_Shift_DelG-p.P4313fs
NCIH1623_LUNG187517694187518325187518290187518290Frame_Shift_DelG-p.P4135fs
NCIH1623_LUNG187518188187518325187518290187518290Frame_Shift_DelG-p.P4135fs
OSC19_UPPER_AERODIGESTIVE_TRACT187538862187542929187540001187540001Frame_Shift_DelC-p.C2580fs
CORL279_LUNG187538862187542929187540533187540533Frame_Shift_DelC-p.A2403fs
SNU213_PANCREAS187538862187542929187541603187541631Frame_Shift_DelGCCTCCTGCTGCTCACGATCGAAGGGCGT-p.TPFDREQQEA2037fs
HSC3_UPPER_AERODIGESTIVE_TRACT187584453187584767187584470187584470Frame_Shift_DelG-p.S1188fs
SNU46_UPPER_AERODIGESTIVE_TRACT187584453187584767187584697187584697Frame_Shift_DelG-p.T1112fs
COLO684_ENDOMETRIUM187538862187542929187542109187542110Frame_Shift_Ins-Gp.P1877fs
CW2_LARGE_INTESTINE187538862187542929187542109187542110Frame_Shift_Ins-Gp.P1877fs
EN_ENDOMETRIUM187557739187558068187557826187557827Frame_Shift_Ins-Tp.N1295fs
HEC108_ENDOMETRIUM187538862187542929187539679187539681In_Frame_DelAAC-p.V2687del
HT115_LARGE_INTESTINE187516843187516980187516852187516852Missense_MutationCTp.D4377N
HT1080_SOFT_TISSUE187516843187516980187516942187516942Missense_MutationGAp.P4347S
MFE296_ENDOMETRIUM187516843187516980187516961187516961Missense_MutationATp.D4340E
GIMEN_AUTONOMIC_GANGLIA187517694187518325187517745187517745Missense_MutationGAp.P4317S
NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187517694187518325187517828187517828Missense_MutationGTp.P4289H
IGROV1_OVARY187517694187518325187517840187517840Missense_MutationCTp.S4285N
NCIH446_LUNG187517694187518325187517954187517954Missense_MutationGTp.P4247H
SNU324_PANCREAS187517694187518325187517970187517970Missense_MutationAGp.Y4242H
CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187517694187518325187518129187518129Missense_MutationCTp.V4189I
JAR_PLACENTA187517694187518325187518164187518164Missense_MutationAGp.I4177T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187517694187518325187518216187518216Missense_MutationGAp.R4160C
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187518188187518325187518216187518216Missense_MutationGAp.R4160C
SNU81_LARGE_INTESTINE187517694187518325187518255187518255Missense_MutationCTp.G4147S
SNU81_LARGE_INTESTINE187518188187518325187518255187518255Missense_MutationCTp.G4147S
NCIH23_LUNG187517694187518325187518276187518276Missense_MutationCAp.A4140S
NCIH23_LUNG187518188187518325187518276187518276Missense_MutationCAp.A4140S
639V_URINARY_TRACT187517694187518325187518314187518314Missense_MutationTAp.D4127V
639V_URINARY_TRACT187518188187518325187518314187518314Missense_MutationTAp.D4127V
SNU81_LARGE_INTESTINE187538862187542929187538865187538865Missense_MutationTCp.T2959A
NCIH82_LUNG187538862187542929187538912187538912Missense_MutationGAp.T2943M
697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187538966187538966Missense_MutationCTp.G2925E
OSRC2_KIDNEY187538862187542929187538979187538979Missense_MutationCTp.E2921K
NCIH526_LUNG187538862187542929187539144187539144Missense_MutationTCp.T2866A
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187539148187539148Missense_MutationCTp.M2864I
HCC2998_LARGE_INTESTINE187538862187542929187539167187539167Missense_MutationTGp.E2858A
HEP3B217_LIVER187538862187542929187539169187539169Missense_MutationACp.I2857M
SNU1040_LARGE_INTESTINE187538862187542929187539203187539203Missense_MutationTCp.Y2846C
NCIH1339_LUNG187538862187542929187539227187539227Missense_MutationGAp.S2838L
IGR1_SKIN187538862187542929187539405187539405Missense_MutationGCp.L2779V
NB17_AUTONOMIC_GANGLIA187538862187542929187539425187539425Missense_MutationTAp.K2772M
HT115_LARGE_INTESTINE187538862187542929187539761187539761Missense_MutationCAp.S2660I
HEC108_ENDOMETRIUM187538862187542929187539872187539872Missense_MutationGAp.A2623V
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187539906187539906Missense_MutationCAp.G2612W
KNS42_CENTRAL_NERVOUS_SYSTEM187538862187542929187539963187539963Missense_MutationCTp.A2593T
PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT187538862187542929187539971187539971Missense_MutationTAp.N2590I
C33A_CERVIX187538862187542929187540061187540061Missense_MutationGAp.A2560V
HS706T_BONE187538862187542929187540085187540085Missense_MutationTCp.E2552G
SNU1041_UPPER_AERODIGESTIVE_TRACT187538862187542929187540212187540212Missense_MutationGTp.L2510M
RXF393_KIDNEY187538862187542929187540272187540272Missense_MutationGTp.P2490T
SKPNDW_BONE187538862187542929187540358187540358Missense_MutationTCp.Y2461C
KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187540395187540395Missense_MutationGTp.L2449I
OMC1_CERVIX187538862187542929187540395187540395Missense_MutationGCp.L2449V
H4_CENTRAL_NERVOUS_SYSTEM187538862187542929187540437187540437Missense_MutationGTp.H2435N
59M_OVARY187538862187542929187540477187540477Missense_MutationGCp.D2421E
RERFGC1B_STOMACH187538862187542929187540487187540487Missense_MutationTCp.D2418G
HEC251_ENDOMETRIUM187538862187542929187540586187540586Missense_MutationTGp.D2385A
HT115_LARGE_INTESTINE187538862187542929187540596187540596Missense_MutationCTp.D2382N
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187540625187540625Missense_MutationCAp.S2372I
OCUM1_STOMACH187538862187542929187540634187540635Missense_MutationGTAGp.T2369L
KM12_LARGE_INTESTINE187538862187542929187540637187540637Missense_MutationGAp.P2368L
SNU1040_LARGE_INTESTINE187538862187542929187540974187540974Missense_MutationCTp.A2256T
MFE319_ENDOMETRIUM187538862187542929187541043187541043Missense_MutationTCp.T2233A
NCIH1876_LUNG187538862187542929187541228187541228Missense_MutationGTp.P2171Q
SW1116_LARGE_INTESTINE187538862187542929187541255187541255Missense_MutationGAp.P2162L
JHUEM1_ENDOMETRIUM187538862187542929187541369187541369Missense_MutationTCp.H2124R
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187541382187541382Missense_MutationGAp.L2120F
ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187541537187541537Missense_MutationTCp.K2068R
NCIH358_LUNG187538862187542929187541598187541598Missense_MutationCGp.D2048H
D425_CENTRAL_NERVOUS_SYSTEM187538862187542929187541605187541605Missense_MutationCAp.E2045D
HT115_LARGE_INTESTINE187538862187542929187541660187541660Missense_MutationCTp.R2027H
MDAMB330_BREAST187538862187542929187541786187541786Missense_MutationGAp.S1985F
SNU1040_LARGE_INTESTINE187538862187542929187541789187541789Missense_MutationTCp.Y1984C
TM31_CENTRAL_NERVOUS_SYSTEM187538862187542929187541895187541895Missense_MutationCTp.E1949K
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187541970187541970Missense_MutationCTp.G1924R
LC1F_LUNG187538862187542929187541970187541970Missense_MutationCGp.G1924R
LC1SQSF_LUNG187538862187542929187541970187541970Missense_MutationCGp.G1924R
LC1SQ_LUNG187538862187542929187541970187541970Missense_MutationCGp.G1924R
SNU719_STOMACH187538862187542929187542214187542214Missense_MutationACp.I1842M
SISO_CERVIX187538862187542929187542242187542242Missense_MutationAGp.L1833P
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187542242187542242Missense_MutationAGp.L1833P
MEL202_EYE187538862187542929187542276187542276Missense_MutationTCp.I1822V
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187542394187542394Missense_MutationGTp.S1782R
NCIH226_LUNG187538862187542929187542455187542455Missense_MutationGAp.A1762V
HT1376_URINARY_TRACT187538862187542929187542492187542492Missense_MutationTCp.T1750A
LN18_CENTRAL_NERVOUS_SYSTEM187538862187542929187542537187542537Missense_MutationACp.L1735V
HCC2157_MATCHED_NORMAL_TISSUE187538862187542929187542561187542561Missense_MutationACp.F1727V
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187538862187542929187542676187542676Missense_MutationCTp.M1688I
OMC1_CERVIX187538862187542929187542749187542749Missense_MutationGAp.S1664F
SNU81_LARGE_INTESTINE187557739187558068187557774187557774Missense_MutationTCp.R1313G
ESS1_ENDOMETRIUM187557739187558068187557804187557804Missense_MutationCTp.E1303K
SNU175_LARGE_INTESTINE187557739187558068187557823187557823Missense_MutationCAp.E1296D
EN_ENDOMETRIUM187557739187558068187557846187557846Missense_MutationAGp.Y1289H
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187557739187558068187557873187557873Missense_MutationCAp.D1280Y
SU8686_PANCREAS187557739187558068187557873187557873Missense_MutationCAp.D1280Y
SNU81_LARGE_INTESTINE187557739187558068187557879187557879Missense_MutationCTp.D1278N
KMRC2_KIDNEY187557739187558068187557881187557881Missense_MutationGAp.T1277I
SISO_CERVIX187557739187558068187557884187557884Missense_MutationGAp.A1276V
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187557739187558068187557884187557884Missense_MutationGAp.A1276V
HCC515_LUNG187557739187558068187557891187557891Missense_MutationCTp.V1274I
SCABER_URINARY_TRACT187557739187558068187557891187557891Missense_MutationCTp.V1274I
C33A_CERVIX187557739187558068187557894187557894Missense_MutationGAp.H1273Y
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187557739187558068187557939187557939Missense_MutationCTp.E1258K
ACCMESO1_PLEURA187557739187558068187557941187557941Missense_MutationCTp.R1257Q
TE6_OESOPHAGUS187557739187558068187557941187557941Missense_MutationCTp.R1257Q
SNU324_PANCREAS187557739187558068187558029187558029Missense_MutationTCp.I1228V
HT115_LARGE_INTESTINE187557739187558068187558035187558035Missense_MutationAGp.S1226P
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187557739187558068187558064187558064Missense_MutationGAp.T1216I
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE187584453187584767187584479187584479Missense_MutationCTp.G1185E
HEC108_ENDOMETRIUM187584453187584767187584656187584656Missense_MutationTCp.Y1126C
CAL148_BREAST187584453187584767187584663187584663Missense_MutationCGp.E1124Q
LNCAPCLONEFGC_PROSTATE187584453187584767187584689187584689Missense_MutationCTp.G1115D
TE617T_SOFT_TISSUE187517694187518325187518241187518241Nonsense_MutationGTp.C4151*
TE617T_SOFT_TISSUE187518188187518325187518241187518241Nonsense_MutationGTp.C4151*
SW900_LUNG187538862187542929187539627187539627Nonsense_MutationCAp.E2705*
HEC251_ENDOMETRIUM187538862187542929187539690187539690Nonsense_MutationCAp.E2684*
T24_URINARY_TRACT187538862187542929187539695187539695Nonsense_MutationGCp.S2682*
SLR20_KIDNEY187538862187542929187539695187539695Nonsense_MutationGCp.S2682*
CAL39_VULVA187538862187542929187539951187539951Nonsense_MutationGAp.R2597*
JHUEM7_ENDOMETRIUM187538862187542929187540074187540074Nonsense_MutationGAp.R2556*
A431_SKIN187538862187542929187540260187540260Nonsense_MutationGAp.Q2494*
BICR31_UPPER_AERODIGESTIVE_TRACT187538862187542929187541607187541607Nonsense_MutationCAp.E2045*
M1203273_SKIN187538862187542929187542198187542198Nonsense_MutationGAp.Q1848*
HCC202_BREAST187538862187542929187542332187542332Nonsense_MutationGCp.S1803*
OMC1_CERVIX187538862187542929187542404187542404Nonsense_MutationGTp.S1779*
BICR56_UPPER_AERODIGESTIVE_TRACT187538862187542929187542656187542656Nonsense_MutationGTp.S1695*
JHUEM7_ENDOMETRIUM187538862187542929187542861187542861Nonsense_MutationGAp.R1627*
SNU1041_UPPER_AERODIGESTIVE_TRACT187584453187584767187584752187584752Nonsense_MutationGCp.S1094*
AU565_BREAST187538862187542929187542929187542929Splice_SiteCTp.G1604E
HKA1_SKIN187557739187558068187557726187557739Splice_SiteAATCTTAACTCACT-p.V1325fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAT1

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 FAT1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAT1


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RelatedDrugs for FAT1

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 FAT1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
FAT1C0009404Colorectal Neoplasms1CTD_human
FAT1C0010606Adenoid Cystic Carcinoma1CTD_human
FAT1C0017636Glioblastoma1CTD_human
FAT1C0018671Head and Neck Neoplasms1CTD_human
FAT1C0023893Liver Cirrhosis, Experimental1CTD_human
FAT1C0036095Salivary Gland Neoplasms1CTD_human
FAT1C0279626Squamous cell carcinoma of esophagus1CTD_human