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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 KTN1

check button Gene summary
Gene informationGene symbol

KTN1

Gene ID

3895

Gene namekinectin 1
SynonymsCG1|KNT|MU-RMS-40.19
Cytomap

14q22.3

Type of geneprotein-coding
DescriptionkinectinCG-1 antigenkinesin receptor
Modification date20180522
UniProtAcc

Q86UP2

ContextPubMed: KTN1 [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 KTN1 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 KTN1

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 KTN1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1067141456047041:56047072:56068474:56068598:56078736:5607876156068474:56068598ENSG00000126777.13ENST00000459737.1,ENST00000395308.1
exon_skip_1067191456047041:56047072:56078736:56079289:56083234:5608337256078736:56079289ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000395314.3
exon_skip_1067281456068509:56068598:56078736:56079289:56083234:5608337256078736:56079289ENSG00000126777.13ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067301456085899:56086030:56094629:56094746:56096674:5609681556094629:56094746ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067321456094629:56094746:56096674:56096815:56099952:5610005956096674:56096815ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067361456103166:56103254:56103915:56104082:56104496:5610456556103915:56104082ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067391456103915:56104082:56104496:56104565:56105902:5610594056104496:56104565ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067411456104496:56104565:56105902:56105940:56106630:5610672156105902:56105940ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067421456107650:56107688:56107844:56107926:56108409:5610847856107844:56107926ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067431456108466:56108478:56113690:56113725:56114742:5611480656113690:56113725ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000553360.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067441456117045:56117136:56117286:56117355:56118607:5611864556117286:56117355ENSG00000126777.13ENST00000438792.2,ENST00000395309.3,ENST00000554507.1,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000554890.1
exon_skip_1067451456117352:56117355:56118004:56118093:56118607:5611864556118004:56118093ENSG00000126777.13ENST00000553360.1
exon_skip_1067471456119567:56119658:56119734:56119803:56120276:5612031456119734:56119803ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000554507.1,ENST00000416613.1,ENST00000553360.1,ENST00000395314.3,ENST00000459737.1,ENST00000555164.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067481456125263:56125332:56126383:56126421:56128239:5612830456126383:56126421ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000554507.1,ENST00000416613.1,ENST00000553360.1,ENST00000395314.3,ENST00000459737.1,ENST00000554570.1,ENST00000554306.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067531456126383:56126421:56128239:56128330:56130672:5613075956128239:56128330ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067541456126383:56126421:56128239:56128330:56133958:5613404856128239:56128330ENSG00000126777.13ENST00000438792.2,ENST00000554507.1
exon_skip_1067581456128239:56128330:56130672:56130759:56133958:5613402756130672:56130759ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000555573.1,ENST00000553624.1,ENST00000395311.1
exon_skip_1067641456128239:56128330:56133958:56134048:56137446:5613752756133958:56134048ENSG00000126777.13ENST00000438792.2,ENST00000554507.1
exon_skip_1067701456130672:56130759:56133958:56134048:56137446:5613752756133958:56134048ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000555172.1,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000555573.1,ENST00000553624.1,ENST00000395311.1
exon_skip_1067781456137446:56137527:56138283:56138373:56138502:5613859556138283:56138373ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000554507.1,ENST00000555172.1,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000555573.1,ENST00000553624.1,ENST00000395311.1
exon_skip_1067801456138283:56138373:56138502:56138595:56139347:5613941556138502:56138595ENSG00000126777.13ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000554507.1,ENST00000555172.1,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000555573.1,ENST00000553624.1,ENST00000395311.1
exon_skip_1067821456138579:56138595:56139347:56139419:56139646:5613973056139347:56139419ENSG00000126777.13ENST00000555506.1,ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000554507.1,ENST00000555172.1,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000334975.9,ENST00000395308.1,ENST00000555573.1,ENST00000395311.1
exon_skip_1067831456139647:56139730:56139889:56139973:56142552:5614263656139889:56139973ENSG00000126777.13ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1
exon_skip_1067851456146380:56146403:56147382:56147459:56150816:5615097156147382:56147459ENSG00000126777.13ENST00000553710.1
exon_skip_1067871456146380:56146403:56147403:56147459:56150816:5615097156147403:56147459ENSG00000126777.13ENST00000416613.1,ENST00000459737.1

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

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Exon skipping events with PSIs in GTEx for KTN1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1067141456047041:56047072:56068474:56068598:56078736:5607876156068474:56068598ENSG00000126777.13ENST00000459737.1,ENST00000395308.1
exon_skip_1067191456047041:56047072:56078736:56079289:56083234:5608337256078736:56079289ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3
exon_skip_1067281456068509:56068598:56078736:56079289:56083234:5608337256078736:56079289ENSG00000126777.13ENST00000459737.1,ENST00000395308.1,ENST00000395311.1
exon_skip_1067301456085899:56086030:56094629:56094746:56096674:5609681556094629:56094746ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1
exon_skip_1067321456094629:56094746:56096674:56096815:56099952:5610005956096674:56096815ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1
exon_skip_1067361456103166:56103254:56103915:56104082:56104496:5610456556103915:56104082ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1
exon_skip_1067391456103915:56104082:56104496:56104565:56105902:5610594056104496:56104565ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1
exon_skip_1067411456104496:56104565:56105902:56105940:56106630:5610672156105902:56105940ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1
exon_skip_1067421456107650:56107688:56107844:56107926:56108409:5610847856107844:56107926ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1
exon_skip_1067431456108466:56108478:56113690:56113725:56114742:5611480656113690:56113725ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1,ENST00000553360.1
exon_skip_1067441456117045:56117136:56117286:56117355:56118607:5611864556117286:56117355ENSG00000126777.13ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000416613.1,ENST00000554507.1,ENST00000554890.1
exon_skip_1067451456117352:56117355:56118004:56118093:56118607:5611864556118004:56118093ENSG00000126777.13ENST00000553360.1
exon_skip_1067471456119567:56119658:56119734:56119803:56120276:5612031456119734:56119803ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1,ENST00000553360.1,ENST00000554507.1,ENST00000555164.1
exon_skip_1067481456125263:56125332:56126383:56126421:56128239:5612830456126383:56126421ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1,ENST00000553360.1,ENST00000554507.1,ENST00000554306.1,ENST00000554570.1
exon_skip_1067531456126383:56126421:56128239:56128330:56130672:5613075956128239:56128330ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1
exon_skip_1067541456126383:56126421:56128239:56128330:56133958:5613404856128239:56128330ENSG00000126777.13ENST00000438792.2,ENST00000554507.1
exon_skip_1067581456128239:56128330:56130672:56130759:56133958:5613402756130672:56130759ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1,ENST00000553624.1,ENST00000555573.1
exon_skip_1067641456128239:56128330:56133958:56134048:56137446:5613752756133958:56134048ENSG00000126777.13ENST00000438792.2,ENST00000554507.1
exon_skip_1067701456130672:56130759:56133958:56134048:56137446:5613752756133958:56134048ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1,ENST00000553624.1,ENST00000555573.1,ENST00000555172.1
exon_skip_1067781456137446:56137527:56138283:56138373:56138502:5613859556138283:56138373ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1,ENST00000554507.1,ENST00000553624.1,ENST00000555573.1,ENST00000555172.1
exon_skip_1067801456138283:56138373:56138502:56138595:56139347:5613941556138502:56138595ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1,ENST00000554507.1,ENST00000553624.1,ENST00000555573.1,ENST00000555172.1
exon_skip_1067821456138579:56138595:56139347:56139419:56139646:5613973056139347:56139419ENSG00000126777.13ENST00000413890.2,ENST00000395309.3,ENST00000438792.2,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1,ENST00000416613.1,ENST00000554507.1,ENST00000555573.1,ENST00000555172.1,ENST00000334975.9,ENST00000555506.1
exon_skip_1067831456139647:56139730:56139889:56139973:56142552:5614263656139889:56139973ENSG00000126777.13ENST00000395309.3,ENST00000395314.3,ENST00000459737.1,ENST00000416613.1
exon_skip_1067851456146380:56146403:56147382:56147459:56150816:5615097156147382:56147459ENSG00000126777.13ENST00000553710.1
exon_skip_1067871456146380:56146403:56147403:56147459:56150816:5615097156147403:56147459ENSG00000126777.13ENST00000459737.1,ENST00000416613.1

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 KTN1

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
ENST0000039531456078736560792895CDS-5UTR
ENST000003953145610391556104082Frame-shift
ENST000003953145610590256105940Frame-shift
ENST000003953145610784456107926Frame-shift
ENST000003953145611369056113725Frame-shift
ENST000003953145612638356126421Frame-shift
ENST000003953145612823956128330Frame-shift
ENST000003953145609462956094746In-frame
ENST000003953145609667456096815In-frame
ENST000003953145610449656104565In-frame
ENST000003953145611728656117355In-frame
ENST000003953145611973456119803In-frame
ENST000003953145613067256130759In-frame
ENST000003953145613395856134048In-frame
ENST000003953145613828356138373In-frame
ENST000003953145613850256138595In-frame
ENST000003953145613934756139419In-frame
ENST000003953145613988956139973In-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
ENST0000039531456078736560792895CDS-5UTR
ENST000003953145610391556104082Frame-shift
ENST000003953145610590256105940Frame-shift
ENST000003953145610784456107926Frame-shift
ENST000003953145611369056113725Frame-shift
ENST000003953145612638356126421Frame-shift
ENST000003953145612823956128330Frame-shift
ENST000003953145609462956094746In-frame
ENST000003953145609667456096815In-frame
ENST000003953145610449656104565In-frame
ENST000003953145611728656117355In-frame
ENST000003953145611973456119803In-frame
ENST000003953145613067256130759In-frame
ENST000003953145613395856134048In-frame
ENST000003953145613828356138373In-frame
ENST000003953145613850256138595In-frame
ENST000003953145613934756139419In-frame
ENST000003953145613988956139973In-frame

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Infer the effects of exon skipping event on protein functional features for KTN1

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
ENST0000039531446351357560946295609474610321148321360
ENST0000039531446351357560966745609681511491289360407
ENST0000039531446351357561044965610456517851853572595
ENST0000039531446351357561172865611735525652633832855
ENST0000039531446351357561197345611980327632831898921
ENST000003953144635135756130672561307593159324510301059
ENST000003953144635135756133958561340483246333510591089
ENST000003953144635135756138283561383733417350611161146
ENST000003953144635135756138502561385953507359911461177
ENST000003953144635135756139347561394193600367111771201
ENST000003953144635135756139889561399733756383912291257

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
ENST0000039531446351357560946295609474610321148321360
ENST0000039531446351357560966745609681511491289360407
ENST0000039531446351357561044965610456517851853572595
ENST0000039531446351357561172865611735525652633832855
ENST0000039531446351357561197345611980327632831898921
ENST000003953144635135756130672561307593159324510301059
ENST000003953144635135756133958561340483246333510591089
ENST000003953144635135756138283561383733417350611161146
ENST000003953144635135756138502561385953507359911461177
ENST000003953144635135756139347561394193600367111771201
ENST000003953144635135756139889561399733756383912291257

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
Q86UP232136011357ChainID=PRO_0000084337;Note=Kinectin
Q86UP23213603301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2321360301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP236040711357ChainID=PRO_0000084337;Note=Kinectin
Q86UP23604073301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2360407373373Sequence conflictNote=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q86UP2360407301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP257259511357ChainID=PRO_0000084337;Note=Kinectin
Q86UP25725953301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2572595301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2832855832854Alternative sequenceID=VSP_043207;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q86UP283285511357ChainID=PRO_0000084337;Note=Kinectin
Q86UP28328553301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2832855301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP289892111357ChainID=PRO_0000084337;Note=Kinectin
Q86UP28989213301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2898921904904GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2898921301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21030105910311059Alternative sequenceID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7584026,ECO:0000303|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP21030105911357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2103010593301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21030105910551055GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP210301059301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21059108910311059Alternative sequenceID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7584026,ECO:0000303|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP21059108911357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2105910893301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21059108910881088GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21059108910841084Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q86UP210591089301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21116114611357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2111611463301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP211161146301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21146117711357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2114611773301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP211461177301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21177120111357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2117712013301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP211771201301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21229125712321259Alternative sequenceID=VSP_007982;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7584026,ECO:0000303|PubMed:8039706;Dbxref
Q86UP21229125711357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2122912573301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21229125712331233Natural variantID=VAR_079266;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27932480;Dbxref=dbSNP:rs372815686,PMID:27932480
Q86UP212291257301357Topological domainNote=Lumenal;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
Q86UP232136011357ChainID=PRO_0000084337;Note=Kinectin
Q86UP23213603301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2321360301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP236040711357ChainID=PRO_0000084337;Note=Kinectin
Q86UP23604073301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2360407373373Sequence conflictNote=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q86UP2360407301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP257259511357ChainID=PRO_0000084337;Note=Kinectin
Q86UP25725953301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2572595301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2832855832854Alternative sequenceID=VSP_043207;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q86UP283285511357ChainID=PRO_0000084337;Note=Kinectin
Q86UP28328553301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2832855301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP289892111357ChainID=PRO_0000084337;Note=Kinectin
Q86UP28989213301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2898921904904GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP2898921301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21030105910311059Alternative sequenceID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7584026,ECO:0000303|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP21030105911357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2103010593301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21030105910551055GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP210301059301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21059108910311059Alternative sequenceID=VSP_007981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7584026,ECO:0000303|PubMed:8039706;Dbxref=PMID:7584026,PMID:8039706
Q86UP21059108911357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2105910893301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21059108910881088GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21059108910841084Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q86UP210591089301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21116114611357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2111611463301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP211161146301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21146117711357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2114611773301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP211461177301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21177120111357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2117712013301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP211771201301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21229125712321259Alternative sequenceID=VSP_007982;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7584026,ECO:0000303|PubMed:8039706;Dbxref
Q86UP21229125711357ChainID=PRO_0000084337;Note=Kinectin
Q86UP2122912573301356Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q86UP21229125712331233Natural variantID=VAR_079266;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27932480;Dbxref=dbSNP:rs372815686,PMID:27932480
Q86UP212291257301357Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for KTN1

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.
KTN1_LIHC_exon_skip_106744_psi_boxplot.png
boxplot
KTN1_LUSC_exon_skip_106744_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_106719
exon_skip_106728
56078737560792895607877356078773Frame_Shift_DelT-p.F3fs
LIHCTCGA-DD-A3A0-01exon_skip_106719
exon_skip_106728
56078737560792895607877356078773Frame_Shift_DelT-p.F3fs
LIHCTCGA-DD-A39Y-01exon_skip_106719
exon_skip_106728
56078737560792895607901656079016Frame_Shift_DelT-p.F84fs
LIHCTCGA-DD-A39Y-01exon_skip_106719
exon_skip_106728
56078737560792895607902256079022Frame_Shift_DelT-p.L86fs
LIHCTCGA-DD-A1EG-01exon_skip_106732
56096675560968155609674156096741Frame_Shift_DelT-p.L383fs
LIHCTCGA-DD-A3A0-01exon_skip_106732
56096675560968155609674556096745Frame_Shift_DelA-p.E384fs
LIHCTCGA-DD-A3A0-01exon_skip_106736
56103916561040825610404156104041Frame_Shift_DelA-p.K559fs
LIHCTCGA-G3-A3CJ-01exon_skip_106744
56117287561173555611732856117328Frame_Shift_DelA-p.G846fs
LIHCTCGA-G3-A3CJ-01exon_skip_106747
56119735561198035611974856119748Frame_Shift_DelA-p.E903fs
COADTCGA-AD-6889-01exon_skip_106748
56126384561264215612639656126396Frame_Shift_DelC-p.F991fs
LIHCTCGA-DD-A39Y-01exon_skip_106748
56126384561264215612639656126396Frame_Shift_DelC-p.P993fs
UCECTCGA-D1-A16N-01exon_skip_106748
56126384561264215612639656126396Frame_Shift_DelC-p.P992fs
CHOLTCGA-W5-AA36-01exon_skip_106748
56126384561264215612640956126415Frame_Shift_DelAATTATT-p.ELL996fs
STADTCGA-HU-A4GN-01exon_skip_106747
56119735561198035611976056119761Frame_Shift_Ins-Ap.L907fs
STADTCGA-HU-A4GN-01exon_skip_106747
56119735561198035611976156119762Frame_Shift_Ins-Ap.L907fs
COADTCGA-A6-5665-01exon_skip_106748
56126384561264215612639556126396Frame_Shift_Ins-Cp.F991fs
UCECTCGA-AX-A05Z-01exon_skip_106719
exon_skip_106728
56078737560792895607885756078857Nonsense_MutationGTp.E31*
UCECTCGA-BS-A0UF-01exon_skip_106719
exon_skip_106728
56078737560792895607885756078857Nonsense_MutationGTp.E31*
UCECTCGA-D1-A17Q-01exon_skip_106719
exon_skip_106728
56078737560792895607889656078896Nonsense_MutationGTp.E44*
READTCGA-F5-6814-01exon_skip_106719
exon_skip_106728
56078737560792895607896256078962Nonsense_MutationGTp.E66X
BLCATCGA-2F-A9KO-01exon_skip_106719
exon_skip_106728
56078737560792895607901056079010Nonsense_MutationCTp.R82*
DLBCTCGA-GS-A9U4-01exon_skip_106719
exon_skip_106728
56078737560792895607901056079010Nonsense_MutationCTp.R82X
UCECTCGA-AX-A0J0-01exon_skip_106719
exon_skip_106728
56078737560792895607916056079160Nonsense_MutationGTp.E132*
CESCTCGA-JX-A3PZ-01exon_skip_106736
56103916561040825610399156103991Nonsense_MutationCGp.S542*
UCECTCGA-BS-A0UV-01exon_skip_106764
exon_skip_106770
56133959561340485613401756134017Nonsense_MutationTGp.L1079*
LIHCTCGA-CC-A9FW-01exon_skip_106719
exon_skip_106728
56078737560792895607929056079290Splice_SiteGA.
ACCTCGA-PK-A5HB-01exon_skip_106736
56103916561040825610391556103915Splice_SiteGA.
LUSCTCGA-39-5031-01exon_skip_106744
56117287561173555611728656117286Splice_SiteGTp.D833_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
KTN1_56117045_56117136_56117286_56117355_56118607_56118645_TCGA-39-5031-01Sample: TCGA-39-5031-01
Cancer type: LUSC
ESID: exon_skip_106744
Skipped exon start: 56117287
Skipped exon end: 56117355
Mutation start: 56117286
Mutation end: 56117286
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: p.D833_splice
exon_skip_106744_LUSC_TCGA-39-5031-01.png
boxplot
exon_skip_286384_LUSC_TCGA-39-5031-01.png
boxplot
exon_skip_390779_LUSC_TCGA-39-5031-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
22RV1_PROSTATE56078737560792895607918756079187Frame_Shift_DelA-p.K142fs
SNU1_STOMACH56078737560792895607922456079224Frame_Shift_DelC-p.T153fs
KU1919_URINARY_TRACT56078737560792895607916056079161Frame_Shift_Ins-Ap.E132fs
IGR37_SKIN56078737560792895607918656079187Frame_Shift_Ins-Ap.K141fs
TGBC11TKB_STOMACH56078737560792895607918656079187Frame_Shift_Ins-Ap.K141fs
EN_ENDOMETRIUM56096675560968155609677056096771Frame_Shift_Ins-Ap.K393fs
JHUEM2_ENDOMETRIUM56078737560792895607883456078836In_Frame_DelTCT-p.F25del
SW1271_LUNG56078737560792895607879456078794Missense_MutationACp.I10L
KU1919_URINARY_TRACT56078737560792895607886956078869Missense_MutationGAp.D35N
HS229T_FIBROBLAST56078737560792895607890856078908Missense_MutationAGp.I48V
EFO27_OVARY56078737560792895607897456078974Missense_MutationGAp.G70R
EW16_BONE56078737560792895607899056078990Missense_MutationCGp.S75C
RL952_ENDOMETRIUM56078737560792895607903856079038Missense_MutationCTp.A91V
HCC2998_LARGE_INTESTINE56078737560792895607907156079071Missense_MutationTGp.L102W
A431_SKIN56078737560792895607915656079156Missense_MutationCGp.I130M
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56078737560792895607916956079169Missense_MutationGAp.A135T
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56078737560792895607920856079208Missense_MutationGAp.V148I
SNU1040_LARGE_INTESTINE56094630560947465609469056094690Missense_MutationGAp.A342T
DMS454_LUNG56094630560947465609470056094700Missense_MutationACp.K345T
HEC251_ENDOMETRIUM56096675560968155609675756096757Missense_MutationACp.N388T
LXF289_LUNG56096675560968155609679256096792Missense_MutationGAp.E400K
M059J_CENTRAL_NERVOUS_SYSTEM56103916561040825610392256103922Missense_MutationAGp.Q519R
M059K_CENTRAL_NERVOUS_SYSTEM56103916561040825610392256103922Missense_MutationAGp.Q519R
M980513_SKIN56103916561040825610398256103982Missense_MutationCTp.T539I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56103916561040825610403956104039Missense_MutationAGp.Q558R
DU145_PROSTATE56103916561040825610405656104056Missense_MutationGAp.E564K
NCIH446_LUNG56104497561045655610450056104500Missense_MutationAGp.I574V
OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56107845561079265610785056107850Missense_MutationAGp.Y676C
MDAMB468_BREAST56107845561079265610791856107918Missense_MutationGCp.E699Q
OVK18_OVARY56117287561173555611731156117311Missense_MutationCAp.L841I
SNU119_OVARY56128240561283305612828156128281Missense_MutationACp.E1014A
SW684_SOFT_TISSUE56128240561283305612829056128290Missense_MutationCTp.S1017F
SNU1040_LARGE_INTESTINE56128240561283305612831456128314Missense_MutationAGp.Q1025R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56130673561307595613074056130740Missense_MutationAGp.K1053R
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56130673561307595613074056130740Missense_MutationAGp.K1053R
NCIH1048_LUNG56133959561340485613401156134011Missense_MutationAGp.K1077R
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56133959561340485613403156134031Missense_MutationTCp.S1084P
COLO704_OVARY56138284561383735613831956138319Missense_MutationGAp.M1128I
SNU1040_LARGE_INTESTINE56138284561383735613835056138350Missense_MutationTCp.Y1139H
JHUEM7_ENDOMETRIUM56138503561385955613855256138552Missense_MutationACp.K1163T
2313287_STOMACH56139348561394195613935356139353Missense_MutationGTp.Q1179H
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE56139348561394195613940756139407Missense_MutationGTp.K1197N
HEC50B_ENDOMETRIUM56139890561399735613996856139968Missense_MutationACp.N1256H
NCIH128_LUNG56078737560792895607894356078944Nonsense_MutationGATTp.59_60KK>N*
NCIH1385_LUNG56094630560947465609464256094642Nonsense_MutationGTp.E326*
A172_CENTRAL_NERVOUS_SYSTEM56105903561059405610593156105931Nonsense_MutationTAp.L605*
SNU81_LARGE_INTESTINE56128240561283305612825956128259Nonsense_MutationGTp.E1007*
HEC1_ENDOMETRIUM56139348561394195613938756139387Nonsense_MutationCTp.R1191*
CW2_LARGE_INTESTINE56078737560792895607876856078768Start_Codon_SNPTCp.M1T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KTN1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1067141456047041:56047072:56068474:56068598:56078736:5607876156068474:56068598ENST00000459737.1,ENST00000395308.1LGGrs10083303chr14:56068521T/C2.64e-05
exon_skip_1067141456047041:56047072:56068474:56068598:56078736:5607876156068474:56068598ENST00000459737.1,ENST00000395308.1LUSCrs10083303chr14:56068521T/C2.46e-03
exon_skip_1067141456047041:56047072:56068474:56068598:56078736:5607876156068474:56068598ENST00000459737.1,ENST00000395308.1THCArs10083303chr14:56068521T/C4.64e-05
exon_skip_1067191456047041:56047072:56078736:56079289:56083234:5608337256078736:56079289ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000395314.3ESCArs1138345chr14:56078739A/C9.35e-08
exon_skip_1067191456047041:56047072:56078736:56079289:56083234:5608337256078736:56079289ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000395314.3OVrs1138345chr14:56078739A/C9.30e-05
exon_skip_1067191456047041:56047072:56078736:56079289:56083234:5608337256078736:56079289ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000395314.3PRADrs1138345chr14:56078739A/C2.11e-03
exon_skip_1067191456047041:56047072:56078736:56079289:56083234:5608337256078736:56079289ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000395314.3THCArs1138345chr14:56078739A/C1.74e-03
exon_skip_1067281456068509:56068598:56078736:56079289:56083234:5608337256078736:56079289ENST00000459737.1,ENST00000395308.1,ENST00000395311.1ESCArs1138345chr14:56078739A/C9.35e-08
exon_skip_1067281456068509:56068598:56078736:56079289:56083234:5608337256078736:56079289ENST00000459737.1,ENST00000395308.1,ENST00000395311.1OVrs1138345chr14:56078739A/C9.30e-05
exon_skip_1067281456068509:56068598:56078736:56079289:56083234:5608337256078736:56079289ENST00000459737.1,ENST00000395308.1,ENST00000395311.1PRADrs1138345chr14:56078739A/C2.11e-03
exon_skip_1067281456068509:56068598:56078736:56079289:56083234:5608337256078736:56079289ENST00000459737.1,ENST00000395308.1,ENST00000395311.1THCArs1138345chr14:56078739A/C1.74e-03
exon_skip_1067321456094629:56094746:56096674:56096815:56099952:5610005956096674:56096815ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1LGGrs2274075chr14:56096731A/G3.20e-05
exon_skip_1067321456094629:56094746:56096674:56096815:56099952:5610005956096674:56096815ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1STADrs2274075chr14:56096731A/G1.66e-03
exon_skip_1067321456094629:56094746:56096674:56096815:56099952:5610005956096674:56096815ENST00000438792.2,ENST00000413890.2,ENST00000395309.3,ENST00000416613.1,ENST00000395314.3,ENST00000459737.1,ENST00000395308.1,ENST00000395311.1THCArs2274075chr14:56096731A/G6.03e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KTN1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KTN1


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RelatedDrugs for KTN1

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 KTN1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
KTN1C0023893Liver Cirrhosis, Experimental1CTD_human