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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 SVIL

check button Gene summary
Gene informationGene symbol

SVIL

Gene ID

6840

Gene namesupervillin
Synonyms-
Cytomap

10p11.23

Type of geneprotein-coding
Descriptionsupervillinarchvillinmembrane-associated F-actin binding protein p205p205/p250
Modification date20180519
UniProtAcc

O95425

ContextPubMed: SVIL [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 SVIL 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 SVIL

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 SVIL

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_484591029759204:29759412:29760066:29760172:29762766:2976291829760066:29760172ENSG00000197321.10ENST00000375400.3,ENST00000535393.1,ENST00000375398.2,ENST00000355867.4
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENSG00000197321.10ENST00000460007.1
exon_skip_484661029770512:29770657:29773584:29773760:29775013:2977515929773584:29773760ENSG00000197321.10ENST00000375400.3,ENST00000535393.1,ENST00000375398.2,ENST00000355867.4,ENST00000538146.1
exon_skip_484671029775013:29775159:29775338:29775486:29776091:2977622829775338:29775486ENSG00000197321.10ENST00000375400.3,ENST00000535393.1,ENST00000375398.2,ENST00000355867.4,ENST00000538146.1
exon_skip_484681029782142:29782320:29783842:29783929:29784020:2978411029783842:29783929ENSG00000197321.10ENST00000474106.1,ENST00000375400.3,ENST00000535393.1,ENST00000375398.2,ENST00000355867.4,ENST00000538146.1
exon_skip_484701029788044:29788192:29797270:29797318:29801663:2980179029797270:29797318ENSG00000197321.10ENST00000535393.1
exon_skip_484721029788044:29788192:29801663:29801790:29811338:2981145629801663:29801790ENSG00000197321.10ENST00000375400.3,ENST00000375398.2,ENST00000355867.4
exon_skip_484731029813400:29813644:29815889:29815985:29818633:2981877329815889:29815985ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_484751029813400:29813644:29818633:29818773:29819535:2981959729818633:29818773ENSG00000197321.10ENST00000375400.3
exon_skip_484781029815889:29815985:29818633:29818773:29819535:2981959729818633:29818773ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_484801029819535:29819597:29820182:29820217:29839525:2984019229820182:29820217ENSG00000197321.10ENST00000375400.3
exon_skip_484821029820182:29820217:29820930:29821101:29821457:2982218129820930:29821101ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_484981029820930:29821101:29821457:29822387:29824917:2982499829821457:29822387ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_485011029821457:29822387:29824917:29824998:29839525:2984019229824917:29824998ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_485041029844018:29844037:29852129:29852221:29858183:2985824129852129:29852221ENSG00000197321.10ENST00000483758.1,ENST00000375400.3,ENST00000375398.2,ENST00000355867.4
exon_skip_485051029852129:29852221:29858183:29858241:29946897:2994699729858183:29858241ENSG00000197321.10ENST00000375400.3,ENST00000375398.2

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

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Exon skipping events with PSIs in GTEx for SVIL

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_484591029759204:29759412:29760066:29760172:29762766:2976291829760066:29760172ENSG00000197321.10ENST00000375400.3,ENST00000375398.2,ENST00000355867.4,ENST00000535393.1
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENSG00000197321.10ENST00000460007.1
exon_skip_484661029770512:29770657:29773584:29773760:29775013:2977515929773584:29773760ENSG00000197321.10ENST00000375400.3,ENST00000375398.2,ENST00000355867.4,ENST00000535393.1,ENST00000538146.1
exon_skip_484671029775013:29775159:29775338:29775486:29776091:2977622829775338:29775486ENSG00000197321.10ENST00000375400.3,ENST00000375398.2,ENST00000355867.4,ENST00000535393.1,ENST00000538146.1
exon_skip_484681029782142:29782320:29783842:29783929:29784020:2978411029783842:29783929ENSG00000197321.10ENST00000375400.3,ENST00000375398.2,ENST00000355867.4,ENST00000535393.1,ENST00000538146.1,ENST00000474106.1
exon_skip_484701029788044:29788192:29797270:29797318:29801663:2980179029797270:29797318ENSG00000197321.10ENST00000535393.1
exon_skip_484721029788044:29788192:29801663:29801790:29811338:2981145629801663:29801790ENSG00000197321.10ENST00000375400.3,ENST00000375398.2,ENST00000355867.4
exon_skip_484731029813400:29813644:29815889:29815985:29818633:2981877329815889:29815985ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_484751029813400:29813644:29818633:29818773:29819535:2981959729818633:29818773ENSG00000197321.10ENST00000375400.3
exon_skip_484781029815889:29815985:29818633:29818773:29819535:2981959729818633:29818773ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_484801029819535:29819597:29820182:29820217:29839525:2984019229820182:29820217ENSG00000197321.10ENST00000375400.3
exon_skip_484821029820182:29820217:29820930:29821101:29821457:2982218129820930:29821101ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_484981029820930:29821101:29821457:29822387:29824917:2982499829821457:29822387ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_485011029821457:29822387:29824917:29824998:29839525:2984019229824917:29824998ENSG00000197321.10ENST00000375398.2,ENST00000355867.4
exon_skip_485041029844018:29844037:29852129:29852221:29858183:2985824129852129:29852221ENSG00000197321.10ENST00000375400.3,ENST00000375398.2,ENST00000355867.4,ENST00000483758.1
exon_skip_485051029852129:29852221:29858183:29858241:29946897:2994699729858183:29858241ENSG00000197321.10ENST00000375400.3,ENST00000375398.2

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 SVIL

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
ENST0000035586729852129298522213UTR-3UTR
ENST000003558672976006629760172Frame-shift
ENST000003558672977358429773760Frame-shift
ENST000003558672977533829775486Frame-shift
ENST000003558672980166329801790Frame-shift
ENST000003558672981863329818773Frame-shift
ENST000003558672978384229783929In-frame
ENST000003558672981588929815985In-frame
ENST000003558672982093029821101In-frame
ENST000003558672982145729822387In-frame
ENST000003558672982491729824998In-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
ENST0000035586729852129298522213UTR-3UTR
ENST000003558672976006629760172Frame-shift
ENST000003558672977358429773760Frame-shift
ENST000003558672977533829775486Frame-shift
ENST000003558672980166329801790Frame-shift
ENST000003558672981863329818773Frame-shift
ENST000003558672978384229783929In-frame
ENST000003558672981588929815985In-frame
ENST000003558672982093029821101In-frame
ENST000003558672982145729822387In-frame
ENST000003558672982491729824998In-frame

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

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
ENST0000035586776032214298249172982499815811661276302
ENST0000035586776032214298214572982238716622591303612
ENST0000035586776032214298209302982110125922762613669
ENST0000035586776032214298158892981598530003095749780
ENST000003558677603221429783842297839294508459412511280

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
ENST0000035586776032214298249172982499815811661276302
ENST0000035586776032214298214572982238716622591303612
ENST0000035586776032214298209302982110125922762613669
ENST0000035586776032214298158892981598530003095749780
ENST000003558677603221429783842297839294508459412511280

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
O95425276302276669Alternative sequenceID=VSP_012425;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9867483;Dbxref=PMID:9867483
O95425276302276302Alternative sequenceID=VSP_053768;Note=In isoform SV3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O9542527630212214ChainID=PRO_0000218740;Note=Supervillin
O95425303612276669Alternative sequenceID=VSP_012425;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9867483;Dbxref=PMID:9867483
O9542530361212214ChainID=PRO_0000218740;Note=Supervillin
O95425303612319319Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8K4L3
O95425303612422422Natural variantID=VAR_058308;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12711699,ECO:0000269|Ref.5;Dbxref=dbSNP:rs1247696,PMID:12711699
O95425613669276669Alternative sequenceID=VSP_012425;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9867483;Dbxref=PMID:9867483
O9542561366912214ChainID=PRO_0000218740;Note=Supervillin
O95425749780750781Alternative sequenceID=VSP_012426;Note=In isoform 2 and isoform SV4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:23382381,ECO:0000303|PubMed:9867483;Dbxref=PMID:23382381,PMID:9867483
O9542574978012214ChainID=PRO_0000218740;Note=Supervillin
O95425749780769769Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
O954251251128012214ChainID=PRO_0000218740;Note=Supervillin


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
O95425276302276669Alternative sequenceID=VSP_012425;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9867483;Dbxref=PMID:9867483
O95425276302276302Alternative sequenceID=VSP_053768;Note=In isoform SV3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O9542527630212214ChainID=PRO_0000218740;Note=Supervillin
O95425303612276669Alternative sequenceID=VSP_012425;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9867483;Dbxref=PMID:9867483
O9542530361212214ChainID=PRO_0000218740;Note=Supervillin
O95425303612319319Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8K4L3
O95425303612422422Natural variantID=VAR_058308;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12711699,ECO:0000269|Ref.5;Dbxref=dbSNP:rs1247696,PMID:12711699
O95425613669276669Alternative sequenceID=VSP_012425;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9867483;Dbxref=PMID:9867483
O9542561366912214ChainID=PRO_0000218740;Note=Supervillin
O95425749780750781Alternative sequenceID=VSP_012426;Note=In isoform 2 and isoform SV4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:23382381,ECO:0000303|PubMed:9867483;Dbxref=PMID:23382381,PMID:9867483
O9542574978012214ChainID=PRO_0000218740;Note=Supervillin
O95425749780769769Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
O954251251128012214ChainID=PRO_0000218740;Note=Supervillin


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SNVs in the skipped exons for SVIL

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.
SVIL_LUAD_exon_skip_48473_psi_boxplot.png
boxplot
SVIL_SARC_exon_skip_48498_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_48459
29760067297601722976008029760080Frame_Shift_DelT-p.E1875fs
COADTCGA-A6-6653-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
COADTCGA-A6-6780-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
COADTCGA-A6-6781-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
COADTCGA-AA-3713-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
COADTCGA-AD-6889-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
COADTCGA-AY-6197-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
COADTCGA-AZ-6598-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
COADTCGA-CM-6162-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
COADTCGA-G4-6588-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
LGGTCGA-HT-8564-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
LGGTCGA-HT-8564-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
READTCGA-EI-6507-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1437fs
STADTCGA-BR-4361-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1863fs
STADTCGA-BR-8368-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1863fs
STADTCGA-BR-8372-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1863fs
STADTCGA-BR-8487-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1863fs
STADTCGA-CG-5721-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1863fs
STADTCGA-CG-5726-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1863fs
STADTCGA-D7-A4YV-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1863fs
STADTCGA-D7-A6EY-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
STADTCGA-D7-A6EY-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.M1863fs
UCECTCGA-A5-A0GB-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
UCECTCGA-AP-A0LP-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
UCECTCGA-D1-A174-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
UCECTCGA-D1-A17U-01exon_skip_48459
29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
LIHCTCGA-G3-A3CJ-01exon_skip_48466
29773585297737602977368829773688Frame_Shift_DelT-p.I1618fs
THCATCGA-BJ-A28S-01exon_skip_48466
29773585297737602977373829773738Frame_Shift_DelC-p.S1175fs
THCATCGA-BJ-A28S-01exon_skip_48466
29773585297737602977373829773738Frame_Shift_DelC-p.S1601fs
LIHCTCGA-G3-A3CJ-01exon_skip_48466
29773585297737602977374329773743Frame_Shift_DelA-p.F1599fs
LIHCTCGA-DD-A3A0-01exon_skip_48467
29775339297754862977535929775359Frame_Shift_DelC-p.G1539fs
LIHCTCGA-DD-A3A0-01exon_skip_48498
29821458298223872982152329821523Frame_Shift_DelT-p.K591fs
LIHCTCGA-DD-A1EG-01exon_skip_48498
29821458298223872982154629821546Frame_Shift_DelC-p.E584fs
LIHCTCGA-G3-A3CJ-01exon_skip_48498
29821458298223872982154629821546Frame_Shift_DelC-p.E584fs
LIHCTCGA-DD-A1EG-01exon_skip_48498
29821458298223872982167729821677Frame_Shift_DelT-p.K540fs
LIHCTCGA-G3-A3CJ-01exon_skip_48498
29821458298223872982167729821677Frame_Shift_DelT-p.K540fs
KIRPTCGA-5P-A9KE-01exon_skip_48498
29821458298223872982169029821690Frame_Shift_DelC-p.E536fs
SARCTCGA-3B-A9HX-01exon_skip_48498
29821458298223872982188629821886Frame_Shift_DelA-p.S472fs
LIHCTCGA-DD-A3A0-01exon_skip_48498
29821458298223872982210129822101Frame_Shift_DelG-p.Q399fs
LIHCTCGA-DD-A1EG-01exon_skip_48498
29821458298223872982229529822295Frame_Shift_DelG-p.P334fs
COADTCGA-AD-6964-01exon_skip_48459
29760067297601722976011529760116Frame_Shift_Ins-Cp.M1437fs
LIHCTCGA-BC-A112-01exon_skip_48467
29775339297754862977546629775467Frame_Shift_Ins-Ap.Y1502fs
UCECTCGA-AX-A063-01exon_skip_48498
29821458298223872982190929821910Frame_Shift_Ins-Ap.G462fs
SKCMTCGA-EB-A431-01exon_skip_48466
29773585297737602977369729773697Nonsense_MutationGAp.Q1189X
SKCMTCGA-EB-A431-01exon_skip_48466
29773585297737602977369729773697Nonsense_MutationGAp.Q1615*
HNSCTCGA-CR-6470-01exon_skip_48472
29801664298017902980169329801693Nonsense_MutationGAp.Q1163*
ACCTCGA-OR-A5JA-01exon_skip_48478
exon_skip_48475
29818634298187732981865329818653Nonsense_MutationCAp.E743*
BLCATCGA-GC-A6I1-01exon_skip_48478
exon_skip_48475
29818634298187732981875229818752Nonsense_MutationCAp.E710*
BLCATCGA-BT-A20J-01exon_skip_48480
29820183298202172982020929820209Nonsense_MutationGCp.S673*
COADTCGA-AZ-4315-01exon_skip_48498
29821458298223872982201129822011Nonsense_MutationCAp.E429X
BLCATCGA-4Z-AA80-01exon_skip_48501
29824918298249982982492629824926Nonsense_MutationCTp.W300*
LUADTCGA-95-7567-01exon_skip_48473
29815890298159852981598729815987Splice_SiteTCp.T749_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SVIL_29820930_29821101_29821457_29822387_29824917_29824998_TCGA-3B-A9HX-01Sample: TCGA-3B-A9HX-01
Cancer type: SARC
ESID: exon_skip_48498
Skipped exon start: 29821458
Skipped exon end: 29822387
Mutation start: 29821886
Mutation end: 29821886
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.S472fs
exon_skip_48498_SARC_TCGA-3B-A9HX-01.png
boxplot
SVIL_29813400_29813644_29815889_29815985_29818633_29818773_TCGA-95-7567-01Sample: TCGA-95-7567-01
Cancer type: LUAD
ESID: exon_skip_48473
Skipped exon start: 29815890
Skipped exon end: 29815985
Mutation start: 29815987
Mutation end: 29815987
Mutation type: Splice_Site
Reference seq: T
Mutation seq: C
AAchange: p.T749_splice
exon_skip_294084_LUAD_TCGA-95-7567-01.png
boxplot
exon_skip_344952_LUAD_TCGA-95-7567-01.png
boxplot
exon_skip_48473_LUAD_TCGA-95-7567-01.png
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exon_skip_54935_LUAD_TCGA-95-7567-01.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_PROSTATE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
C33A_CERVIX29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
DOV13_OVARY29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
OC316_OVARY29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
SISO_CERVIX29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
HEC108_ENDOMETRIUM29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
HEC151_ENDOMETRIUM29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
HEC265_ENDOMETRIUM29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
HEC59_ENDOMETRIUM29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
HEC6_ENDOMETRIUM29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
LNCAPCLONEFGC_PROSTATE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
SNGM_ENDOMETRIUM29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
SNUC2A_LARGE_INTESTINE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
TOV21G_OVARY29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
HCT116_LARGE_INTESTINE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
RKO_LARGE_INTESTINE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
LOVO_LARGE_INTESTINE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
LS411N_LARGE_INTESTINE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
OVK18_OVARY29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
NCIH630_LARGE_INTESTINE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
OC314_OVARY29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
SNU1040_LARGE_INTESTINE29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
TGBC11TKB_STOMACH29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
JHUEM1_ENDOMETRIUM29760067297601722976011629760116Frame_Shift_DelC-p.G1862fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29760067297601722976011529760116Frame_Shift_Ins-Cp.M1863fs
HEC265_ENDOMETRIUM29821458298223872982163129821632Frame_Shift_Ins-Gp.P555fs
SNUC5_LARGE_INTESTINE29821458298223872982163129821632Frame_Shift_Ins-Gp.P555fs
NUGC2_STOMACH29773585297737602977360929773609Missense_MutationCAp.G1644V
CW2_LARGE_INTESTINE29775339297754862977543529775435Missense_MutationCGp.A1513P
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29775339297754862977544329775443Missense_MutationCTp.G1510D
TE15_OESOPHAGUS29775339297754862977544329775443Missense_MutationCTp.G1510D
JHH4_LIVER29775339297754862977544329775443Missense_MutationCTp.G1510D
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29775339297754862977545429775454Missense_MutationCAp.K1506N
CORL303_LUNG29775339297754862977547129775471Missense_MutationTCp.T1501A
DMS53_LUNG29801664298017902980170729801707Missense_MutationCGp.S1158T
CAL148_BREAST29801664298017902980173129801731Missense_MutationTGp.Q1150P
SNU81_LARGE_INTESTINE29801664298017902980175229801752Missense_MutationCTp.R1143K
NCIH1836_LUNG29815890298159852981597429815974Missense_MutationGTp.P753H
SKPNDW_BONE29818634298187732981869829818698Missense_MutationGAp.R728C
AN3CA_ENDOMETRIUM29818634298187732981869829818698Missense_MutationGAp.R728C
PLCPRF5_LIVER29818634298187732981870229818702Missense_MutationCAp.R726S
PL18_PANCREAS29820931298211012982096529820965Missense_MutationGAp.P659S
SNU1040_LARGE_INTESTINE29820931298211012982101829821018Missense_MutationCTp.R641H
SISO_CERVIX29820931298211012982103929821039Missense_MutationCTp.R634K
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29820931298211012982103929821039Missense_MutationCTp.R634K
SKCO1_LARGE_INTESTINE29820931298211012982105529821055Missense_MutationCTp.G629S
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29821458298223872982148529821485Missense_MutationGAp.S604F
SISO_CERVIX29821458298223872982151329821513Missense_MutationCTp.A595T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29821458298223872982151329821513Missense_MutationCTp.A595T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29821458298223872982155829821558Missense_MutationCTp.G580R
KURAMOCHI_OVARY29821458298223872982156629821566Missense_MutationTCp.K577R
NCIH2110_LUNG29821458298223872982158729821587Missense_MutationTAp.E570V
NCIH2110_LUNG29821458298223872982158729821588Missense_MutationTCATp.E570M
NCIH2110_LUNG29821458298223872982158829821588Missense_MutationCTp.E570K
IPC298_SKIN29821458298223872982159729821597Missense_MutationAGp.S567P
NCIH2342_LUNG29821458298223872982161429821614Missense_MutationTCp.K561R
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29821458298223872982172229821722Missense_MutationGAp.S525F
NCIH513_PLEURA29821458298223872982173829821738Missense_MutationGCp.Q520E
TGBC11TKB_STOMACH29821458298223872982174929821749Missense_MutationAGp.V516A
NCIH3122_LUNG29821458298223872982178929821789Missense_MutationGAp.P503S
HPAC_PANCREAS29821458298223872982181029821810Missense_MutationCTp.V496M
HS888T_FIBROBLAST29821458298223872982185729821857Missense_MutationGAp.P480L
HEC59_ENDOMETRIUM29821458298223872982188629821886Missense_MutationATp.D470E
GCT_SOFT_TISSUE29821458298223872982197529821975Missense_MutationCTp.E441K
NCIH2342_LUNG29821458298223872982198429821984Missense_MutationCGp.E438Q
CPCN_LUNG29821458298223872982211729822117Missense_MutationCGp.W393C
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29821458298223872982212529822125Missense_MutationAGp.C391R
UACC893_BREAST29821458298223872982214029822140Missense_MutationCGp.E386Q
HEC108_ENDOMETRIUM29821458298223872982222329822223Missense_MutationCTp.G358D
IPC298_SKIN29821458298223872982222329822223Missense_MutationCTp.G358D
KYSE270_OESOPHAGUS29821458298223872982225629822256Missense_MutationGAp.S347L
EW18_BONE29821458298223872982232929822329Missense_MutationCAp.A323S
PCI30_UPPER_AERODIGESTIVE_TRACT29821458298223872982234029822340Missense_MutationCAp.S319I
M1203273_SKIN29821458298223872982236529822365Missense_MutationCTp.V311M
HEC1A_ENDOMETRIUM29821458298223872982237429822374Missense_MutationCTp.E308K
639V_URINARY_TRACT29824918298249982982498129824981Missense_MutationTAp.H282L
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29818634298187732981873429818734Nonsense_MutationGAp.R716*
NCIH2110_LUNG29821458298223872982181629821816Nonsense_MutationCAp.E494*
LS180_LARGE_INTESTINE29821458298223872982221529822215Nonsense_MutationGAp.R361*
DBTRG05MG_CENTRAL_NERVOUS_SYSTEM29773585297737602977376029773760Splice_SiteCGp.V1594L
TMK1_STOMACH29775339297754862977533729775339Splice_SiteACA-p.C1545del
KP4_PANCREAS29821458298223872982145929821459Splice_SiteGAp.L613F
MDST8_LARGE_INTESTINE29824918298249982982491829824918Splice_SiteCTp.R303K

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1HNSCrs11007608chr10:29764350C/T6.62e-06
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1HNSCrs11007608chr10:29764350C/T6.67e-06
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1HNSCrs10740805chr10:29764408G/T8.88e-06
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1HNSCrs10740805chr10:29764408G/T8.96e-06
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1LUADrs10740805chr10:29764408G/T1.45e-03
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1LUADrs10740805chr10:29764408G/T1.47e-03
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1LUADrs11007608chr10:29764350C/T1.94e-03
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1LUADrs11007608chr10:29764350C/T1.95e-03
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1LUSCrs11007608chr10:29764350C/T9.54e-04
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1LUSCrs11007608chr10:29764350C/T9.56e-04
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1PAADrs11007608chr10:29764350C/T1.91e-05
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1PAADrs11007608chr10:29764350C/T1.92e-05
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1SARCrs11007608chr10:29764350C/T1.25e-06
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1SARCrs11007608chr10:29764350C/T1.25e-06
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1THCArs11007608chr10:29764350C/T1.64e-03
exon_skip_484651029762766:29762918:29764283:29764420:29769478:2976974229764283:29764420ENST00000460007.1THCArs11007608chr10:29764350C/T1.65e-03
exon_skip_484981029820930:29821101:29821457:29822387:29824917:2982499829821457:29822387ENST00000375398.2,ENST00000355867.4BRCArs7076239chr10:29822159C/T2.20e-03
exon_skip_484981029820930:29821101:29821457:29822387:29824917:2982499829821457:29822387ENST00000375398.2,ENST00000355867.4BRCArs1328323chr10:29821523T/C2.41e-03
exon_skip_484981029820930:29821101:29821457:29822387:29824917:2982499829821457:29822387ENST00000375398.2,ENST00000355867.4BRCArs7076239chr10:29822159C/T4.87e-03
exon_skip_484981029820930:29821101:29821457:29822387:29824917:2982499829821457:29822387ENST00000375398.2,ENST00000355867.4BRCArs7076239chr10:29822159C/T4.87e-03

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


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


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RelatedDrugs for SVIL

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 SVIL

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SVILC0023467Leukemia, Myelocytic, Acute1CTD_human