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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 TOR1AIP2

check button Gene summary
Gene informationGene symbol

TOR1AIP2

Gene ID

163590

Gene nametorsin 1A interacting protein 2
SynonymsIFRG15|LULL1|NET9
Cytomap

1q25.2

Type of geneprotein-coding
Descriptiontorsin-1A-interacting protein 2interferon alpha responsive protein15 kDa interferon-responsive proteininterferon responsive gene 15lumenal domain like LAP1torsin A interacting protein 2
Modification date20200313
UniProtAcc

A0A096LNM1,

Q8NFQ8,

Q9H496,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
TOR1AIP2

GO:0032781

positive regulation of ATPase activity

23569223|24275647

TOR1AIP2

GO:0090435

protein localization to nuclear envelope

19339278


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Gene structures and expression levels for TOR1AIP2

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

ENSG00000169905
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
CBUPENST00000609928.5TOR1AIP2-206:protein_coding:TOR1AIP29.248095e+011.224632e+001.065523e-051.111650e-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 TOR1AIP2

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_110476chr1179865436:179865854:179877239:179877373:179877693:179877772179877239:179877373
exon_skip_116668chr1179865679:179865854:179877239:179877373:179877693:179877772179877239:179877373
exon_skip_194779chr1179852632:179852811:179865436:179865854:179877239:179877373179865436:179865854
exon_skip_38402chr1179852632:179852811:179865436:179865854:179877239:179877367179865436:179865854
exon_skip_45708chr1179865571:179865854:179877239:179877373:179877693:179877772179877239:179877373

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 TOR1AIP2

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
ENST000006099281798654361798658543UTR-3UTR
ENST000006099281798772391798773733UTR-3UTR
ENST000004825871798772391798773733UTR-3UTR

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
ENST000006099281798654361798658543UTR-3UTR
ENST000006099281798772391798773733UTR-3UTR
ENST000004825871798772391798773733UTR-3UTR

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
ENST000006099281798654361798658543UTR-3UTR
ENST000006099281798772391798773733UTR-3UTR
ENST000004825871798772391798773733UTR-3UTR

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Infer the effects of exon skipping event on protein functional features for TOR1AIP2

p-ENSG00000169905_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

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

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

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

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

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


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3'-UTR located exon skipping events that lost miRNA binding sites in TOR1AIP2

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
MayoENST00000482587179877239179877373hsa-miR-186-3pchr1:179877295-1798773028mer-1achr1:179877295-179877316154.00-31.06
MayoENST00000609928179865436179865854hsa-miR-4256chr1:179865719-1798657268mer-1achr1:179865711-179865733156.00-17.58
MayoENST00000609928179865436179865854hsa-miR-6736-3pchr1:179865615-1798656228mer-1achr1:179865602-179865622157.00-24.78
MayoENST00000482587179877239179877373hsa-miR-7151-3pchr1:179877279-1798772868mer-1achr1:179877272-179877293192.00-42.14
MayoENST00000609928179865436179865854hsa-miR-3157-5pchr1:179865824-1798658318mer-1achr1:179865809-179865831152.00-20.25
MayoENST00000609928179865436179865854hsa-miR-8087chr1:179865681-1798656888mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000609928179865436179865854hsa-miR-492chr1:179865623-1798656308mer-1achr1:179865619-179865640160.00-21.51
MayoENST00000609928179865436179865854hsa-miR-17-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000609928179865436179865854hsa-miR-20a-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000609928179865436179865854hsa-miR-4501chr1:179865846-1798658538mer-1achr1:179865833-179865853140.00-17.91
MayoENST00000482587179877239179877373hsa-miR-4713-5pchr1:179877311-1798773188mer-1achr1:179877298-179877318166.00-34.30
MayoENST00000609928179865436179865854hsa-miR-11181-5pchr1:179865719-1798657268mer-1achr1:179865711-179865733156.00-17.58
MayoENST00000609928179865436179865854hsa-miR-1225-5pchr1:179865675-1798656828mer-1achr1:179865671-179865689155.00-16.30
MayoENST00000609928179865436179865854hsa-miR-142-5pchr1:179865699-1798657068mer-1achr1:179865686-179865706150.00-9.51
MayoENST00000609928179865436179865854hsa-miR-5583-5pchr1:179865506-1798655138mer-1achr1:179865497-179865517151.00-8.22
MayoENST00000609928179865436179865854hsa-miR-4750-3pchr1:179865718-1798657258mer-1achr1:179865711-179865733156.00-17.58
MayoENST00000609928179865436179865854hsa-miR-526b-5pchr1:179865478-1798654858mer-1achr1:179865478-179865498154.00-20.27
MayoENST00000609928179865436179865854hsa-miR-526b-3pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000609928179865436179865854hsa-miR-519d-3pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000609928179865436179865854hsa-miR-5590-3pchr1:179865699-1798657068mer-1achr1:179865686-179865706150.00-9.51
MayoENST00000609928179865436179865854hsa-miR-3129-3pchr1:179865506-1798655138mer-1achr1:179865497-179865517151.00-8.22
MayoENST00000609928179865436179865854hsa-miR-499a-5pchr1:179865682-1798656898mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000609928179865436179865854hsa-miR-4535chr1:179865624-1798656318mer-1achr1:179865619-179865640160.00-21.51
MayoENST00000482587179877239179877373hsa-miR-1224-3pchr1:179877308-1798773158mer-1achr1:179877298-179877318166.00-34.30
MayoENST00000609928179865436179865854hsa-miR-93-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000609928179865436179865854hsa-miR-106b-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000482587179877239179877373hsa-miR-6843-3pchr1:179877339-1798773468mer-1achr1:179877327-179877346152.00-18.79
MayoENST00000609928179865436179865854hsa-miR-6846-3pchr1:179865716-1798657238mer-1achr1:179865711-179865733156.00-17.58
MayoENST00000482587179877239179877373hsa-miR-6848-3pchr1:179877339-1798773468mer-1achr1:179877327-179877346152.00-18.79
MayoENST00000609928179865436179865854hsa-miR-32-3pchr1:179865502-1798655098mer-1achr1:179865497-179865517151.00-8.22
MayoENST00000609928179865436179865854hsa-miR-7702chr1:179865499-1798655068mer-1achr1:179865488-179865506146.00-16.40
MayoENST00000482587179877239179877373hsa-miR-532-3pchr1:179877310-1798773178mer-1achr1:179877298-179877318166.00-34.30
MayoENST00000609928179865436179865854hsa-miR-20b-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MayoENST00000609928179865436179865854hsa-miR-106a-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000482587179877239179877373hsa-miR-186-3pchr1:179877295-1798773028mer-1achr1:179877295-179877316154.00-31.06
MSBBENST00000609928179865436179865854hsa-miR-4256chr1:179865719-1798657268mer-1achr1:179865711-179865733156.00-17.58
MSBBENST00000609928179865436179865854hsa-miR-6736-3pchr1:179865615-1798656228mer-1achr1:179865602-179865622157.00-24.78
MSBBENST00000482587179877239179877373hsa-miR-7151-3pchr1:179877279-1798772868mer-1achr1:179877272-179877293192.00-42.14
MSBBENST00000609928179865436179865854hsa-miR-3157-5pchr1:179865824-1798658318mer-1achr1:179865809-179865831152.00-20.25
MSBBENST00000609928179865436179865854hsa-miR-8087chr1:179865681-1798656888mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000609928179865436179865854hsa-miR-492chr1:179865623-1798656308mer-1achr1:179865619-179865640160.00-21.51
MSBBENST00000609928179865436179865854hsa-miR-17-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000609928179865436179865854hsa-miR-20a-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000609928179865436179865854hsa-miR-4501chr1:179865846-1798658538mer-1achr1:179865833-179865853140.00-17.91
MSBBENST00000482587179877239179877373hsa-miR-4713-5pchr1:179877311-1798773188mer-1achr1:179877298-179877318166.00-34.30
MSBBENST00000609928179865436179865854hsa-miR-11181-5pchr1:179865719-1798657268mer-1achr1:179865711-179865733156.00-17.58
MSBBENST00000609928179865436179865854hsa-miR-1225-5pchr1:179865675-1798656828mer-1achr1:179865671-179865689155.00-16.30
MSBBENST00000609928179865436179865854hsa-miR-142-5pchr1:179865699-1798657068mer-1achr1:179865686-179865706150.00-9.51
MSBBENST00000609928179865436179865854hsa-miR-5583-5pchr1:179865506-1798655138mer-1achr1:179865497-179865517151.00-8.22
MSBBENST00000609928179865436179865854hsa-miR-4750-3pchr1:179865718-1798657258mer-1achr1:179865711-179865733156.00-17.58
MSBBENST00000609928179865436179865854hsa-miR-526b-5pchr1:179865478-1798654858mer-1achr1:179865478-179865498154.00-20.27
MSBBENST00000609928179865436179865854hsa-miR-526b-3pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000609928179865436179865854hsa-miR-519d-3pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000609928179865436179865854hsa-miR-5590-3pchr1:179865699-1798657068mer-1achr1:179865686-179865706150.00-9.51
MSBBENST00000609928179865436179865854hsa-miR-3129-3pchr1:179865506-1798655138mer-1achr1:179865497-179865517151.00-8.22
MSBBENST00000609928179865436179865854hsa-miR-499a-5pchr1:179865682-1798656898mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000609928179865436179865854hsa-miR-4535chr1:179865624-1798656318mer-1achr1:179865619-179865640160.00-21.51
MSBBENST00000482587179877239179877373hsa-miR-1224-3pchr1:179877308-1798773158mer-1achr1:179877298-179877318166.00-34.30
MSBBENST00000609928179865436179865854hsa-miR-93-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000609928179865436179865854hsa-miR-106b-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000482587179877239179877373hsa-miR-6843-3pchr1:179877339-1798773468mer-1achr1:179877327-179877346152.00-18.79
MSBBENST00000609928179865436179865854hsa-miR-6846-3pchr1:179865716-1798657238mer-1achr1:179865711-179865733156.00-17.58
MSBBENST00000482587179877239179877373hsa-miR-6848-3pchr1:179877339-1798773468mer-1achr1:179877327-179877346152.00-18.79
MSBBENST00000609928179865436179865854hsa-miR-32-3pchr1:179865502-1798655098mer-1achr1:179865497-179865517151.00-8.22
MSBBENST00000609928179865436179865854hsa-miR-7702chr1:179865499-1798655068mer-1achr1:179865488-179865506146.00-16.40
MSBBENST00000482587179877239179877373hsa-miR-532-3pchr1:179877310-1798773178mer-1achr1:179877298-179877318166.00-34.30
MSBBENST00000609928179865436179865854hsa-miR-20b-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
MSBBENST00000609928179865436179865854hsa-miR-106a-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000482587179877239179877373hsa-miR-186-3pchr1:179877295-1798773028mer-1achr1:179877295-179877316154.00-31.06
ROSMAPENST00000609928179865436179865854hsa-miR-4256chr1:179865719-1798657268mer-1achr1:179865711-179865733156.00-17.58
ROSMAPENST00000609928179865436179865854hsa-miR-6736-3pchr1:179865615-1798656228mer-1achr1:179865602-179865622157.00-24.78
ROSMAPENST00000482587179877239179877373hsa-miR-7151-3pchr1:179877279-1798772868mer-1achr1:179877272-179877293192.00-42.14
ROSMAPENST00000609928179865436179865854hsa-miR-3157-5pchr1:179865824-1798658318mer-1achr1:179865809-179865831152.00-20.25
ROSMAPENST00000609928179865436179865854hsa-miR-8087chr1:179865681-1798656888mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000609928179865436179865854hsa-miR-492chr1:179865623-1798656308mer-1achr1:179865619-179865640160.00-21.51
ROSMAPENST00000609928179865436179865854hsa-miR-17-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000609928179865436179865854hsa-miR-20a-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000609928179865436179865854hsa-miR-4501chr1:179865846-1798658538mer-1achr1:179865833-179865853140.00-17.91
ROSMAPENST00000482587179877239179877373hsa-miR-4713-5pchr1:179877311-1798773188mer-1achr1:179877298-179877318166.00-34.30
ROSMAPENST00000609928179865436179865854hsa-miR-11181-5pchr1:179865719-1798657268mer-1achr1:179865711-179865733156.00-17.58
ROSMAPENST00000609928179865436179865854hsa-miR-1225-5pchr1:179865675-1798656828mer-1achr1:179865671-179865689155.00-16.30
ROSMAPENST00000609928179865436179865854hsa-miR-142-5pchr1:179865699-1798657068mer-1achr1:179865686-179865706150.00-9.51
ROSMAPENST00000609928179865436179865854hsa-miR-5583-5pchr1:179865506-1798655138mer-1achr1:179865497-179865517151.00-8.22
ROSMAPENST00000609928179865436179865854hsa-miR-4750-3pchr1:179865718-1798657258mer-1achr1:179865711-179865733156.00-17.58
ROSMAPENST00000609928179865436179865854hsa-miR-526b-5pchr1:179865478-1798654858mer-1achr1:179865478-179865498154.00-20.27
ROSMAPENST00000609928179865436179865854hsa-miR-526b-3pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000609928179865436179865854hsa-miR-519d-3pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000609928179865436179865854hsa-miR-5590-3pchr1:179865699-1798657068mer-1achr1:179865686-179865706150.00-9.51
ROSMAPENST00000609928179865436179865854hsa-miR-3129-3pchr1:179865506-1798655138mer-1achr1:179865497-179865517151.00-8.22
ROSMAPENST00000609928179865436179865854hsa-miR-499a-5pchr1:179865682-1798656898mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000609928179865436179865854hsa-miR-4535chr1:179865624-1798656318mer-1achr1:179865619-179865640160.00-21.51
ROSMAPENST00000482587179877239179877373hsa-miR-1224-3pchr1:179877308-1798773158mer-1achr1:179877298-179877318166.00-34.30
ROSMAPENST00000609928179865436179865854hsa-miR-93-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000609928179865436179865854hsa-miR-106b-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000482587179877239179877373hsa-miR-6843-3pchr1:179877339-1798773468mer-1achr1:179877327-179877346152.00-18.79
ROSMAPENST00000609928179865436179865854hsa-miR-6846-3pchr1:179865716-1798657238mer-1achr1:179865711-179865733156.00-17.58
ROSMAPENST00000482587179877239179877373hsa-miR-6848-3pchr1:179877339-1798773468mer-1achr1:179877327-179877346152.00-18.79
ROSMAPENST00000609928179865436179865854hsa-miR-32-3pchr1:179865502-1798655098mer-1achr1:179865497-179865517151.00-8.22
ROSMAPENST00000609928179865436179865854hsa-miR-7702chr1:179865499-1798655068mer-1achr1:179865488-179865506146.00-16.40
ROSMAPENST00000482587179877239179877373hsa-miR-532-3pchr1:179877310-1798773178mer-1achr1:179877298-179877318166.00-34.30
ROSMAPENST00000609928179865436179865854hsa-miR-20b-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24
ROSMAPENST00000609928179865436179865854hsa-miR-106a-5pchr1:179865697-1798657048mer-1achr1:179865681-179865704158.00-19.24

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SNVs in the skipped exons for TOR1AIP2

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 TOR1AIP2

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 TOR1AIP2

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 TOR1AIP2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
DLPFCRBM6exon_skip_1104764.745141e-015.844706e-17
DLPFCCELF1exon_skip_1104764.148539e-016.003812e-13
IFGTARDBPexon_skip_1104764.681854e-011.198353e-02
IFGZNF638exon_skip_1104764.687340e-011.187049e-02
IFGRBM6exon_skip_1104764.064738e-013.183721e-02
IFGCNOT4exon_skip_1104765.677057e-011.627306e-03
IFGENOX1exon_skip_1104764.239852e-012.454438e-02
IFGKHSRPexon_skip_1104764.344498e-012.087974e-02
IFGHNRNPDexon_skip_1104764.384867e-011.959173e-02
IFGCELF1exon_skip_1104764.895788e-018.186942e-03

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RelatedDrugs for TOR1AIP2

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 TOR1AIP2

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