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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 PRUNE2

check button Gene summary
Gene informationGene symbol

PRUNE2

Gene ID

158471

Gene nameprune homolog 2 with BCH domain
SynonymsBMCC1|BNIPXL|C9orf65|KIAA0367
Cytomap

9q21.2

Type of geneprotein-coding
Descriptionprotein prune homolog 2BCH motif-containing molecule at the carboxyl terminal region 1BNIP2 motif containing molecule at the carboxyl terminal region 1BNIP2 motif-containing molecule at the C-terminal region 1olfaxintruncated PRUNE2
Modification date20200313
UniProtAcc

A0A088AWP5,

A0A0C4DFM3,

B9EK61,

D6RTK6,

E9PDC2,

G8XWS8,

G8XWS9,

H7BZH9,

L8E865,

Q5JUB8,

Q5JUB9,

Q8WUY3,

X6R9J3,

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 PRUNE2

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

ENSG00000106772
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
PCCUPENST00000466266.6PRUNE2-210:lncRNA:PRUNE24.950785e+011.739686e+001.179382e-075.790763e-05
PGUPENST00000443509.6PRUNE2-208:protein_coding:PRUNE29.863219e+021.239103e+004.083264e-051.409073e-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 PRUNE2

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_100245chr976846599:76846678:76850463:76850665:76854104:7685420876850463:76850665
exon_skip_123731chr976619340:76619387:76625023:76625058:76629192:7662927576625023:76625058
exon_skip_124559chr976850463:76850665:76854104:76854208:76905928:7690604176854104:76854208
exon_skip_136627chr976624452:76624490:76629192:76629290:76636471:7663655776629192:76629290
exon_skip_169466chr976826580:76826732:76846515:76846678:76850463:7685066076846515:76846678
exon_skip_171621chr976637539:76637549:76638186:76638288:76644739:7664490976638186:76638288
exon_skip_18208chr976826580:76826732:76846515:76846678:76850463:7685066576846515:76846678
exon_skip_188141chr976614569:76614600:76619340:76619387:76625023:7662505876619340:76619387
exon_skip_194238chr976614540:76614600:76619340:76619387:76625023:7662505876619340:76619387
exon_skip_194903chr976823632:76823726:76826580:76826732:76846515:7684667876826580:76826732
exon_skip_201999chr976637539:76637549:76638186:76638288:76644739:7664490076638186:76638288
exon_skip_222742chr976713563:76713721:76823632:76823726:76826580:7682673276823632:76823726
exon_skip_237870chr976619340:76619387:76624452:76624490:76629192:7662927876624452:76624490
exon_skip_241455chr976619340:76619387:76624452:76624490:76629192:7662927576624452:76624490
exon_skip_243417chr976625023:76625058:76629192:76629290:76636471:7663655776629192:76629290
exon_skip_259494chr976638186:76638288:76641972:76641980:76644739:7664490076641972:76641980
exon_skip_263146chr976636471:76636557:76637418:76637549:76638186:7663828876637418:76637549
exon_skip_267384chr976619340:76619387:76625023:76625058:76629192:7662927876625023:76625058
exon_skip_281573chr976614450:76614600:76629192:76629290:76636471:7663655776629192:76629290
exon_skip_286254chr976619340:76619387:76624452:76624490:76629192:7662929076624452:76624490
exon_skip_39411chr976638186:76638288:76641972:76641980:76644739:7664490976641972:76641980
exon_skip_50760chr976614450:76614600:76619340:76619387:76625023:7662505876619340:76619387
exon_skip_8360chr976619340:76619387:76625023:76625058:76629192:7662929076625023:76625058
exon_skip_95500chr976614450:76614600:76619340:76619387:76624452:7662449076619340:76619387

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_39411ROSMAP_DLPFC4.477202e-013.286792e-011.190410e-011.118608e-04
exon_skip_39411MSBB_STG4.080645e-013.020833e-011.059812e-011.487999e-02
exon_skip_39411MSBB_PG5.103623e-013.269091e-011.834532e-017.721548e-07
exon_skip_60589Mayo_CB8.164634e-019.304545e-01-1.139911e-013.715269e-08
exon_skip_208144Mayo_TC3.859756e-015.328767e-01-1.469011e-011.600068e-03
exon_skip_158530Mayo_TC4.912195e-016.166216e-01-1.254021e-011.781686e-05


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Open reading frame (ORF) annotation in the exon skipping event for PRUNE2

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
ENST000003767187663818676638288Frame-shift
ENST000003767187684651576846678Frame-shift
ENST000003767187685046376850665Frame-shift
ENST000003767187661934076619387In-frame
ENST000003767187662445276624490In-frame
ENST000003767187662919276629290In-frame
ENST000003767187663741876637549In-frame
ENST000003767187682658076826732In-frame
ENST000003767187685410476854208In-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
ENST000003767187663818676638288Frame-shift
ENST000003767187682363276823726Frame-shift
ENST000003767187684651576846678Frame-shift
ENST000003767187685046376850665Frame-shift
ENST000003767187661934076619387In-frame
ENST000003767187662445276624490In-frame
ENST000003767187682658076826732In-frame
ENST000003767187685410476854208In-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
ENST000003767187663818676638288Frame-shift
ENST000003767187685046376850665Frame-shift
ENST000003767187661934076619387In-frame
ENST000003767187662445276624490In-frame
ENST000003767187662919276629290In-frame
ENST000003767187682658076826732In-frame
ENST000003767187685410476854208In-frame

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Infer the effects of exon skipping event on protein functional features for PRUNE2

p-ENSG00000106772_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
ENST0000037671812601308876854104768542081612641246
ENST000003767181260130887682658076826732633784169220
ENST0000037671812601308876637418766375498956908629442987
ENST0000037671812601308876629192766292909175927230173049
ENST0000037671812601308876624452766244909274931130503062
ENST0000037671812601308876619340766193879313935930633078

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
ENST0000037671812601308876854104768542081612641246
ENST000003767181260130887682658076826732633784169220
ENST0000037671812601308876624452766244909274931130503062
ENST0000037671812601308876619340766193879313935930633078

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
ENST0000037671812601308876854104768542081612641246
ENST000003767181260130887682658076826732633784169220
ENST0000037671812601308876629192766292909175927230173049
ENST0000037671812601308876624452766244909274931130503062
ENST0000037671812601308876619340766193879313935930633078

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
Q8WUY3124612736Alternative sequenceID=VSP_039339;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q8WUY3124613088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY316922012736Alternative sequenceID=VSP_039339;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q8WUY316922013088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY32944298713088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY32944298728953056DomainNote=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056
Q8WUY33017304913088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY33017304928953056DomainNote=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056
Q8WUY33050306230513088Alternative sequenceID=VSP_039343;Note=In isoform 4. LDEELREASEAAKTSCLYNDPEMSSMEKDIDLKLKEKP->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q8WUY33050306213088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY33050306228953056DomainNote=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056
Q8WUY33063307830513088Alternative sequenceID=VSP_039343;Note=In isoform 4. LDEELREASEAAKTSCLYNDPEMSSMEKDIDLKLKEKP->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q8WUY33063307813088ChainID=PRO_0000089701;Note=Protein prune homolog 2

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
Q8WUY3124612736Alternative sequenceID=VSP_039339;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q8WUY3124613088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY316922012736Alternative sequenceID=VSP_039339;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q8WUY316922013088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY33050306230513088Alternative sequenceID=VSP_039343;Note=In isoform 4. LDEELREASEAAKTSCLYNDPEMSSMEKDIDLKLKEKP->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q8WUY33050306213088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY33050306228953056DomainNote=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056
Q8WUY33063307830513088Alternative sequenceID=VSP_039343;Note=In isoform 4. LDEELREASEAAKTSCLYNDPEMSSMEKDIDLKLKEKP->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q8WUY33063307813088ChainID=PRO_0000089701;Note=Protein prune homolog 2

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
Q8WUY3124612736Alternative sequenceID=VSP_039339;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q8WUY3124613088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY316922012736Alternative sequenceID=VSP_039339;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q8WUY316922013088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY33017304913088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY33017304928953056DomainNote=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056
Q8WUY33050306230513088Alternative sequenceID=VSP_039343;Note=In isoform 4. LDEELREASEAAKTSCLYNDPEMSSMEKDIDLKLKEKP->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q8WUY33050306213088ChainID=PRO_0000089701;Note=Protein prune homolog 2
Q8WUY33050306228953056DomainNote=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056
Q8WUY33063307830513088Alternative sequenceID=VSP_039343;Note=In isoform 4. LDEELREASEAAKTSCLYNDPEMSSMEKDIDLKLKEKP->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
Q8WUY33063307813088ChainID=PRO_0000089701;Note=Protein prune homolog 2


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3'-UTR located exon skipping events that lost miRNA binding sites in PRUNE2

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 PRUNE2

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 PRUNE2

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 PRUNE2

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
TCexon_skip_95500rs13290974chr9:765497302.710438e-043.630990e-02

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Correlation with RNA binding proteins (RBPs) for PRUNE2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBSRSF9exon_skip_507604.449907e-015.591959e-07
CBSRSF2exon_skip_2902484.967140e-011.381933e-09
CBSRSF9exon_skip_2902484.771426e-017.283223e-09
CBTARDBPexon_skip_152162-5.020950e-012.437548e-09
CBRBM3exon_skip_1521624.559536e-019.120130e-08
CBTRA2Aexon_skip_152162-5.690238e-014.406434e-12
CBTRA2Aexon_skip_237870-5.074304e-013.426695e-11
CBHNRNPFexon_skip_237870-4.188329e-019.605731e-08
CBTARDBPexon_skip_267384-4.623430e-015.033805e-08
CBRBM3exon_skip_2673844.108019e-011.771034e-06
CBTRA2Aexon_skip_267384-5.016753e-012.176213e-09
CBRBM3exon_skip_206760-4.751972e-016.173202e-08
CBUNKexon_skip_206760-4.367738e-018.510295e-07
CBDAZAP1exon_skip_210124-4.299849e-011.058937e-06
CBTARDBPexon_skip_210124-4.213082e-011.829002e-06
CBRBM6exon_skip_210124-4.914853e-011.380630e-08
CBCNOT4exon_skip_210124-4.276198e-011.230896e-06
CBPCBP4exon_skip_2101245.354582e-013.510861e-10
CBTRA2Aexon_skip_210124-5.833852e-013.345397e-12
CBFUBP3exon_skip_2101244.950627e-011.043814e-08
CBFUBP1exon_skip_210124-4.958776e-019.789500e-09
CBDAZAP1exon_skip_60589-4.470472e-011.227664e-08
CBTARDBPexon_skip_60589-5.208709e-011.149506e-11
CBRBM6exon_skip_60589-4.716337e-011.443237e-09
CBCNOT4exon_skip_60589-5.575246e-011.837083e-13
CBRBM3exon_skip_605894.664887e-012.291007e-09
CBPCBP1exon_skip_60589-4.324518e-014.047450e-08
CBPCBP4exon_skip_605896.197735e-014.523326e-17
CBTRA2Aexon_skip_60589-6.501971e-013.813120e-19
CBFUBP1exon_skip_60589-5.308740e-013.904433e-12
CBPTBP1exon_skip_60589-4.931919e-011.911272e-10
CBRBM4Bexon_skip_60589-5.139668e-012.373383e-11
CBRBM3exon_skip_2019994.586744e-015.807463e-09
CBPTBP1exon_skip_201999-4.823102e-017.079238e-10
CBRBM4Bexon_skip_201999-5.194679e-011.838808e-11
CBSRSF2exon_skip_259494-4.148399e-019.744585e-08
FLSRSF9exon_skip_507604.257790e-011.149072e-07
FLSRSF2exon_skip_39411-4.457230e-017.379046e-11
HCCRBM5exon_skip_50760-5.803350e-012.964336e-25
HCCSRSF1exon_skip_50760-4.135449e-012.269861e-12
HCCRBM5exon_skip_296676-5.433800e-011.109350e-21
HCCRBM3exon_skip_923905.770909e-012.254060e-25
HCCSRSF1exon_skip_394114.431838e-012.037157e-14
IFGRBM5exon_skip_296676-5.944082e-012.779861e-03
IFGSRSF1exon_skip_296676-4.617676e-012.654553e-02
PCCG3BP2exon_skip_2081446.302371e-013.315541e-23
PCCHNRNPFexon_skip_208144-6.086916e-012.344304e-21
PCCRBM3exon_skip_984875.456824e-014.667685e-16
STGSRSF2exon_skip_39411-4.242503e-014.685236e-05
STGSRSF9exon_skip_39411-4.426529e-011.976024e-05
TCSRSF9exon_skip_507604.821848e-012.772848e-10
TCSRSF2exon_skip_344134.991144e-011.069629e-10
TCSRSF9exon_skip_344134.780108e-018.052537e-10
TCSRSF2exon_skip_2081445.054407e-011.978669e-11
TCG3BP2exon_skip_2081447.532464e-011.235905e-29
TCRBMS2exon_skip_158530-4.176101e-015.830787e-08
TCRBM3exon_skip_1585306.484658e-015.578179e-20
TCSRSF2exon_skip_39411-4.563873e-011.484571e-09

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RelatedDrugs for PRUNE2

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 PRUNE2

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