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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 ITGAV

check button Gene summary
Gene informationGene symbol

ITGAV

Gene ID

3685

Gene nameintegrin subunit alpha V
SynonymsCD51|MSK8|VNRA|VTNR
Cytomap

2q32.1

Type of geneprotein-coding
Descriptionintegrin alpha-Vantigen identified by monoclonal antibody L230integrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alpha
Modification date20200313
UniProtAcc

A5YM53,

H7BZG1,

L7RXH0,

P06756,

Context

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

GO:0007155

cell adhesion

10218736

ITGAV

GO:0008284

positive regulation of cell proliferation

19578119

ITGAV

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

ITGAV

GO:0034446

substrate adhesion-dependent cell spreading

24658351

ITGAV

GO:0045785

positive regulation of cell adhesion

10708943

ITGAV

GO:0050764

regulation of phagocytosis

10570297

ITGAV

GO:0070588

calcium ion transmembrane transport

18395422

ITGAV

GO:1901388

regulation of transforming growth factor beta activation

22278742

ITGAV

GO:2000536

negative regulation of entry of bacterium into host cell

10570297


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Gene structures and expression levels for ITGAV

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

ENSG00000138448
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
CBUPENST00000460641.1ITGAV-205:retained_intron:ITGAV1.692145e+001.393836e+002.280465e-052.115341e-04
CBUPENST00000496477.1ITGAV-207:retained_intron:ITGAV2.445022e+001.242241e+007.356188e-043.991425e-03

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 ITGAV

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_12480chr2186666704:186666783:186667150:186667230:186667671:186667776186667150:186667230
exon_skip_133438chr2186590080:186590523:186602021:186602151:186622339:186622430186602021:186602151
exon_skip_178961chr2186664494:186664641:186665126:186665218:186666704:186666783186665126:186665218
exon_skip_188128chr2186625473:186625587:186630797:186630858:186633329:186633374186630797:186630858
exon_skip_202464chr2186649840:186649885:186651982:186652089:186654650:186654708186651982:186652089
exon_skip_22330chr2186669701:186669814:186675604:186675717:186675820:186675927186675604:186675717
exon_skip_231342chr2186656247:186656401:186659038:186659175:186663768:186663835186659038:186659175
exon_skip_265657chr2186675820:186675927:186676813:186676935:186677197:186677441186676813:186676935
exon_skip_57930chr2186622339:186622430:186625473:186625587:186636082:186636207186625473:186625587

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 ITGAV

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
ENST00000261023186630797186630858Frame-shift
ENST00000261023186675604186675717In-frame
ENST00000261023186676813186676935In-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
ENST00000261023186630797186630858Frame-shift
ENST00000261023186667150186667230In-frame
ENST00000261023186675604186675717In-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
ENST00000261023186630797186630858Frame-shift
ENST00000261023186651982186652089In-frame
ENST00000261023186659038186659175In-frame
ENST00000261023186665126186665218In-frame
ENST00000261023186667150186667230In-frame
ENST00000261023186675604186675717In-frame
ENST00000261023186676813186676935In-frame

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

p-ENSG00000138448_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
ENST000002610237047104818667560418667571729823094902940
ENST0000026102370471048186676813186676935320433259761017

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
ENST000002610237047104818666715018666723025222601749775
ENST000002610237047104818667560418667571729823094902940

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
ENST000002610237047104818665198218665208916731779466501
ENST000002610237047104818665903818665917519952131573619
ENST000002610237047104818666512618666521823492440691722
ENST000002610237047104818666715018666723025222601749775
ENST000002610237047104818667560418667571729823094902940
ENST0000026102370471048186676813186676935320433259761017

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
P06756902940900902Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940907916Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940923933Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P067569029408911048ChainID=PRO_0000016303;Note=Integrin alpha-V light chain
P06756902940852914Disulfide bondNote=Interchain (between heavy and light chains);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610
P06756902940904909Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610
P06756902940935938HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P0675690294031992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756902940904906TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P067569761017971982Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P067569761017311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P0675697610178911048ChainID=PRO_0000016303;Note=Integrin alpha-V light chain
P067569761017980980GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756976101731992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756976101710171048Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0675697610179931016TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P06756749775752754Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756749775760767Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756749775772786Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756749775311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P0675674977531889ChainID=PRO_0000016302;Note=Integrin alpha-V heavy chain
P0675674977531992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756902940900902Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940907916Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940923933Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P067569029408911048ChainID=PRO_0000016303;Note=Integrin alpha-V light chain
P06756902940852914Disulfide bondNote=Interchain (between heavy and light chains);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610
P06756902940904909Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610
P06756902940935938HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P0675690294031992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756902940904906TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE

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
P06756466501470485Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG
P06756466501494499Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756466501311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P0675646650131889ChainID=PRO_0000016302;Note=Integrin alpha-V heavy chain
P06756466501491502Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610
P06756466501488488GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447
P06756466501419482RepeatNote=FG-GAP 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00803
P0675646650131992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756573619585593Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG
P06756573619601603Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4G1E
P06756573619610612Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG
P06756573619614623Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG
P06756573619311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P0675657361931889ChainID=PRO_0000016302;Note=Integrin alpha-V heavy chain
P06756573619615615GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:28117447;Dbxref=PMID:12754519,PMID:19159218,PMID:28117447
P06756573619575577HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FFG
P0675657361931992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756573619595597TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4UM9
P06756691722691693Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4G1E
P06756691722697701Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756691722703705Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756691722708712Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756691722715717Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756691722722731Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756691722311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P0675669172231889ChainID=PRO_0000016302;Note=Integrin alpha-V heavy chain
P06756691722698711Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610
P06756691722704704GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P06756691722700700Sequence conflictNote=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P0675669172231992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756749775752754Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756749775760767Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756749775772786Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756749775311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P0675674977531889ChainID=PRO_0000016302;Note=Integrin alpha-V heavy chain
P0675674977531992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756902940900902Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940907916Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940923933Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P06756902940311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P067569029408911048ChainID=PRO_0000016303;Note=Integrin alpha-V light chain
P06756902940852914Disulfide bondNote=Interchain (between heavy and light chains);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610
P06756902940904909Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14596610;Dbxref=PMID:14596610
P06756902940935938HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P0675690294031992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756902940904906TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P067569761017971982Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IJE
P067569761017311048ChainID=PRO_0000016301;Note=Integrin alpha-V
P0675697610178911048ChainID=PRO_0000016303;Note=Integrin alpha-V light chain
P067569761017980980GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756976101731992Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06756976101710171048Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P0675697610179931016TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


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

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 ITGAV

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 ITGAV

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 ITGAV

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 ITGAV

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for ITGAV

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P06756approvedDB00098Antithymocyte immunoglobulin (rabbit)biotechP06756

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RelatedDiseases for ITGAV

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