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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 PSIP1

check button Gene summary
Gene informationGene symbol

PSIP1

Gene ID

11168

Gene namePC4 and SFRS1 interacting protein 1
SynonymsDFS70|LEDGF|PAIP|PSIP2|p52|p75
Cytomap

9p22.3

Type of geneprotein-coding
DescriptionPC4 and SFRS1-interacting proteinCLL-associated antigen KW-7dense fine speckles 70 kDa proteinlens epithelium-derived growth factortranscriptional coactivator p52/p75
Modification date20200313
UniProtAcc

L8E926,

O75475,

Q05CM9,

Q8N4N4,

V9GYT7,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
PSIP1

GO:0000395

mRNA 5'-splice site recognition

9885563


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Gene structures and expression levels for PSIP1

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

ENSG00000164985
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.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

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 PSIP1

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_101463chr915486827:15486931:15489986:15490124:15506561:1550663715489986:15490124
exon_skip_102170chr915478477:15478552:15479591:15479687:15486006:1548603015479591:15479687
exon_skip_111467chr915478477:15478552:15479591:15479687:15486006:1548606815479591:15479687
exon_skip_113903chr915469938:15469993:15472632:15472750:15474009:1547420115472632:15472750
exon_skip_145168chr915486882:15486931:15489986:15490124:15506561:1550663715489986:15490124
exon_skip_187551chr915479591:15479687:15486006:15486068:15486827:1548693115486006:15486068
exon_skip_195067chr915469266:15469336:15469938:15469993:15472632:1547275015469938:15469993
exon_skip_198976chr915506561:15506637:15510117:15510329:15510817:1551094615510117:15510329
exon_skip_290470chr915464066:15465580:15466748:15466859:15468630:1546884315466748:15466859
exon_skip_29209chr915506561:15506637:15510117:15510326:15510817:1551094615510117:15510326

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 PSIP1

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
ENST0000038073815510117155103263UTR-3CDS
ENST000003807331546674815466859Frame-shift
ENST000003807381546674815466859Frame-shift
ENST000003807331547959115479687Frame-shift
ENST000003807381547959115479687Frame-shift
ENST000003807331548998615490124Frame-shift
ENST000003807381548998615490124Frame-shift
ENST000003807331548600615486068In-frame
ENST000003807381548600615486068In-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
ENST0000038073815510117155103263UTR-3CDS
ENST000003807331547959115479687Frame-shift
ENST000003807381547959115479687Frame-shift

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
ENST0000038073815510117155103263UTR-3CDS
ENST000003807331546674815466859Frame-shift
ENST000003807381546674815466859Frame-shift
ENST000003807331546993815469993Frame-shift
ENST000003807381546993815469993Frame-shift
ENST000003807331547263215472750Frame-shift
ENST000003807381547263215472750Frame-shift
ENST000003807331547959115479687Frame-shift
ENST000003807381547959115479687Frame-shift
ENST000003807331548998615490124Frame-shift
ENST000003807381548998615490124Frame-shift

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Infer the effects of exon skipping event on protein functional features for PSIP1

p-ENSG00000164985_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
ENST0000038073334085301548600615486068738799131151
ENST0000038073833815301548600615486068711772131151

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
O754751311511530ChainID=PRO_0000191708;Note=PC4 and SFRS1-interacting protein
O754751311511530ChainID=PRO_0000191708;Note=PC4 and SFRS1-interacting protein
O75475131151141141Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,P
O75475131151141141Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,P
O75475131151146156MotifNote=Nuclear localization signal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15797927;Dbxref=PMID:15797927
O75475131151146156MotifNote=Nuclear localization signal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15797927;Dbxref=PMID:15797927

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 PSIP1

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 PSIP1

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 PSIP1

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 PSIP1

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 PSIP1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBDAZAP1exon_skip_102170-5.190147e-012.404156e-12
CBCNOT4exon_skip_102170-5.293346e-017.314246e-13
CBTRA2Aexon_skip_102170-6.123872e-019.714598e-18
CBNUP42exon_skip_1021705.147856e-013.870437e-12

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RelatedDrugs for PSIP1

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 PSIP1

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