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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for VPS13D

check button Gene summary
Gene informationGene symbol

VPS13D

Gene ID

55187

Gene namevacuolar protein sorting 13 homolog D
SynonymsSCAR4
Cytomap

1p36.22-p36.21

Type of geneprotein-coding
Descriptionvacuolar protein sorting-associated protein 13Dvacuolar protein sorting 13D
Modification date20200313
UniProtAcc

A0A2R8Y876,

A0A2R8YD87,

B1AJZ2,

F5GX56,

H3BLS7,

Q5THJ4,

R4GMW1,

Context

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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Gene structures and expression levels for VPS13D

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000048707
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000543766.2VPS13D-212:protein_coding:VPS13D7.498522e+02-1.165090e+003.503083e-064.347813e-05
TCUPENST00000489961.1VPS13D-210:lncRNA:VPS13D1.324370e+001.366162e+002.081324e-054.618169e-04

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for VPS13D

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_107589chr112403825:12403973:12415087:12415221:12416660:1241682712415087:12415221
exon_skip_112308chr112416660:12416827:12455998:12456130:12460201:1246039612455998:12456130
exon_skip_121399chr112283435:12283736:12288223:12288313:12290998:1229112412288223:12288313
exon_skip_133913chr112415087:12415221:12416660:12416827:12455998:1245607112416660:12416827
exon_skip_135339chr112234191:12234363:12242513:12242590:12244246:1224443612242513:12242590
exon_skip_144192chr112304506:12304728:12308431:12308641:12311454:1231162512308431:12308641
exon_skip_146448chr112311813:12311925:12314115:12314327:12318072:1231833712314115:12314327
exon_skip_167917chr112323706:12323780:12327648:12327854:12329829:1232991812327648:12327854
exon_skip_185532chr112249223:12249339:12253722:12253826:12256333:1225650312253722:12253826
exon_skip_193032chr112416660:12416827:12453839:12453899:12455998:1245613012453839:12453899
exon_skip_201660chr112455998:12456130:12460201:12460396:12497500:1249763112460201:12460396
exon_skip_205213chr112401674:12401704:12402568:12402702:12403825:1240394812402568:12402702
exon_skip_231640chr112349164:12349374:12353974:12354221:12355899:1235609012353974:12354221
exon_skip_252562chr112273003:12273135:12275825:12278038:12279499:1227965012275825:12278038
exon_skip_261621chr112335705:12335827:12341780:12341885:12342899:1234305112341780:12341885
exon_skip_263220chr112401608:12401704:12402568:12402702:12403825:1240394812402568:12402702
exon_skip_2792chr112230067:12230120:12234191:12234363:12242513:1224259012234191:12234363
exon_skip_294146chr112311526:12311625:12311813:12311925:12314115:1231432712311813:12311925
exon_skip_4chr112318072:12318337:12319497:12319630:12321809:1232196412319497:12319630
exon_skip_5388chr112409838:12409894:12415087:12415221:12416660:1241682712415087:12415221
exon_skip_59001chr112288223:12288313:12290998:12291124:12293524:1229370412290998:12291124
exon_skip_6816chr112335705:12335827:12338231:12338305:12341783:1234188512338231:12338305
exon_skip_72556chr112267845:12267920:12268706:12268876:12270994:1227112412268706:12268876
exon_skip_734chr112335710:12335827:12338231:12338305:12341780:1234188512338231:12338305
exon_skip_84989chr112356398:12356524:12358459:12358601:12362720:1236285012358459:12358601
exon_skip_89715chr112335705:12335827:12338231:12338305:12341780:1234188512338231:12338305
exon_skip_91727chr112293524:12293704:12299202:12299384:12304506:1230472812299202:12299384
exon_skip_97080chr112341783:12341885:12342899:12343051:12345374:1234550912342899:12343051

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for VPS13D

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000006206761230843112308641Frame-shift
ENST000006206761231181312311925Frame-shift
ENST000006206761235845912358601Frame-shift
ENST000006206761245599812456130Frame-shift
ENST000006206761225372212253826In-frame
ENST000006206761226870612268876In-frame
ENST000006206761233823112338305In-frame
ENST000006206761241508712415221In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000006206761235845912358601Frame-shift
ENST000006206761245599812456130Frame-shift
ENST000006206761224251312242590In-frame
ENST000006206761226870612268876In-frame
ENST000006206761231411512314327In-frame
ENST000006206761233823112338305In-frame
ENST000006206761241508712415221In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000006206761228822312288313Frame-shift
ENST000006206761229099812291124Frame-shift
ENST000006206761230843112308641Frame-shift
ENST000006206761231181312311925Frame-shift
ENST000006206761231949712319630Frame-shift
ENST000006206761235397412354221Frame-shift
ENST000006206761235845912358601Frame-shift
ENST000006206761245599812456130Frame-shift
ENST000006206761246020112460396Frame-shift
ENST000006206761224251312242590In-frame
ENST000006206761226870612268876In-frame
ENST000006206761227582512278038In-frame
ENST000006206761229920212299384In-frame
ENST000006206761231411512314327In-frame
ENST000006206761232764812327854In-frame
ENST000006206761233823112338305In-frame
ENST000006206761234289912343051In-frame
ENST000006206761241508712415221In-frame
ENST000006206761241666012416827In-frame

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Infer the effects of exon skipping event on protein functional features for VPS13D

p-ENSG00000048707_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000006206761637243881225372212253826731834188223
ENST00000620676163724388122687061226887619682137601657
ENST0000062067616372438812338231123383058718879128512875
ENST000006206761637243881241508712415221121971233040104055

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000062067616372438812242513122425902643403358
ENST00000620676163724388122687061226887619682137601657
ENST0000062067616372438812314115123143277102731323122382
ENST0000062067616372438812338231123383058718879128512875
ENST000006206761637243881241508712415221121971233040104055

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000062067616372438812242513122425902643403358
ENST00000620676163724388122687061226887619682137601657
ENST000006206761637243881227582512278038240346157461483
ENST0000062067616372438812299202122993846200638120112072
ENST0000062067616372438812314115123143277102731323122382
ENST0000062067616372438812327648123278548157836226642732
ENST0000062067616372438812338231123383058718879128512875
ENST0000062067616372438812342899123430518899905029112961
ENST000006206761637243881241508712415221121971233040104055
ENST000006206761637243881241666012416827123321249840554111

check button Lost protein functional features of individual exon skipping events in ROSMAP.
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
Q5THJ418822314388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ460165714388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42851287528512876Alternative sequenceID=VSP_052249;Note=In isoform 2. SLPLVYLRTRSTASLTNLEHQIYARA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15498460,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15498460,PMID:17974005
Q5THJ42851287514388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42851287528612861Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q5THJ42851287528642864Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q5THJ44010405514388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D

check button Lost protein functional features of individual exon skipping events in MSBB.
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
Q5THJ4335814388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ460165714388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42312238214388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42312238223322332Sequence conflictNote=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5THJ42312238223612361Sequence conflictNote=C->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5THJ42851287528512876Alternative sequenceID=VSP_052249;Note=In isoform 2. SLPLVYLRTRSTASLTNLEHQIYARA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15498460,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15498460,PMID:17974005
Q5THJ42851287514388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42851287528612861Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q5THJ42851287528642864Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q5THJ44010405514388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D

check button Lost protein functional features of individual exon skipping events in Mayo.
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
Q5THJ4335814388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ460165714388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ4746148314388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ4746148310341034Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q5THJ4746148310381038Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q5THJ4746148310421042Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q5THJ4746148311381138Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q5THJ4746148313411341Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q5THJ47461483865865Natural variantID=VAR_080911;Note=Probable disease-associated mutation found in a patient with childhood onset movement disorders. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29518281;Dbxref=PMID:29518281
Q5THJ4746148312001200Natural variantID=VAR_080912;Note=Probable disease-associated mutation found in a patient with childhood onset movement disorders. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29518281;Dbxref=PMID:29518281
Q5THJ4746148313411341Natural variantID=VAR_029558;Note=S->L;Dbxref=dbSNP:rs12407578
Q5THJ42011207214388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42312238214388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42312238223322332Sequence conflictNote=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5THJ42312238223612361Sequence conflictNote=C->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5THJ42664273214388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42664273226332676DomainNote=UBA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00212
Q5THJ42664273226712671Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q5THJ42851287528512876Alternative sequenceID=VSP_052249;Note=In isoform 2. SLPLVYLRTRSTASLTNLEHQIYARA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15498460,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15498460,PMID:17974005
Q5THJ42851287514388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ42851287528612861Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q5THJ42851287528642864Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q5THJ42911296114388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ44010405514388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D
Q5THJ44055411114388ChainID=PRO_0000262951;Note=Vacuolar protein sorting-associated protein 13D


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3'-UTR located exon skipping events that lost miRNA binding sites in VPS13D

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for VPS13D

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for VPS13D

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VPS13D

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for VPS13D

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
HCCRBM6exon_skip_6816-5.477065e-013.182955e-22
HCCSRSF11exon_skip_6816-4.463273e-011.992237e-14
HCCIGF2BP2exon_skip_6816-4.057762e-015.765800e-12
HCCPCBP4exon_skip_6816-4.088177e-013.867854e-12
HCCQKIexon_skip_6816-5.067609e-019.263189e-19
HCCSF1exon_skip_6816-4.190063e-019.856095e-13
IFGIGF2BP2exon_skip_6816-4.916224e-017.884463e-03
PCCQKIexon_skip_6816-5.523206e-019.997662e-17
PCCPABPC1exon_skip_6816-4.253388e-017.760744e-10
TCENOX1exon_skip_68164.273994e-014.419190e-08
TCHNRNPA0exon_skip_68164.593259e-012.987974e-09

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RelatedDrugs for VPS13D

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for VPS13D

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