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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 SHROOM1

check button Gene summary
Gene informationGene symbol

SHROOM1

Gene ID

134549

Gene nameshroom family member 1
SynonymsAPXL2
Cytomap

5q31.1

Type of geneprotein-coding
Descriptionprotein Shroom1apical protein 2
Modification date20200313
UniProtAcc

A6NN40,

C9JXU1,

Q2M3G4,

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 SHROOM1

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

ENSG00000164403
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
PGUPENST00000440118.1SHROOM1-204:protein_coding:SHROOM14.227244e+001.239282e+006.005650e-051.884575e-03
PGUPENST00000488072.1SHROOM1-205:lncRNA:SHROOM16.665957e+008.091230e-011.369834e-031.825921e-02

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 SHROOM1

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_105421chr5132825169:132826182:132826277:132826587:132827461:132827576132826277:132826587
exon_skip_12394chr5132823850:132824419:132824615:132824821:132825018:132825073132824615:132824821
exon_skip_202911chr5132824402:132824419:132824615:132824821:132825018:132825073132824615:132824821
exon_skip_21485chr5132825169:132826182:132826277:132826587:132827461:132827607132826277:132826587
exon_skip_246581chr5132824365:132824419:132824615:132824821:132825018:132825073132824615:132824821
exon_skip_247834chr5132826143:132826182:132826277:132826587:132827461:132827607132826277:132826587
exon_skip_256640chr5132823623:132823764:132823850:132824419:132824615:132824821132823850:132824419
exon_skip_276286chr5132823623:132823764:132823850:132824419:132825018:132825073132823850:132824419
exon_skip_283043chr5132824281:132824419:132825018:132825073:132825163:132826140132825018:132825073
exon_skip_43983chr5132824615:132824821:132825018:132825073:132825163:132826140132825018:132825073
exon_skip_86305chr5132825169:132826182:132826277:132826587:132827461:132827588132826277:132826587
exon_skip_90960chr5132824281:132824419:132824615:132824821:132825018:132825073132824615:132824821

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 SHROOM1

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
ENST000003786791328262771328265873UTR-3UTR
ENST00000378679132825018132825073Frame-shift
ENST00000617339132825018132825073Frame-shift
ENST00000378679132823850132824419In-frame
ENST00000617339132823850132824419In-frame
ENST00000378679132824615132824821In-frame
ENST00000617339132824615132824821In-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
ENST00000378679132824615132824821In-frame
ENST00000617339132824615132824821In-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
ENST000003786791328262771328265873UTR-3UTR
ENST00000378679132825018132825073Frame-shift
ENST00000617339132825018132825073Frame-shift
ENST00000378679132823850132824419In-frame
ENST00000617339132823850132824419In-frame
ENST00000378679132824615132824821In-frame
ENST00000617339132824615132824821In-frame

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Infer the effects of exon skipping event on protein functional features for SHROOM1

p-ENSG00000164403_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
ENST00000378679403685213282461513282482118402045345413
ENST00000617339365585213282461513282482114791684345413
ENST00000378679403685213282385013282441920472615414603
ENST00000617339365585213282385013282441916862254414603

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
ENST00000378679403685213282461513282482118402045345413
ENST00000617339365585213282461513282482114791684345413

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
ENST00000378679403685213282461513282482118402045345413
ENST00000617339365585213282461513282482114791684345413
ENST00000378679403685213282385013282441920472615414603
ENST00000617339365585213282385013282441916862254414603

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
Q2M3G43454131852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G43454131852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G44146031852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G44146031852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G4414603543825DomainNote=ASD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00638
Q2M3G4414603543825DomainNote=ASD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00638

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
Q2M3G43454131852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G43454131852ChainID=PRO_0000286061;Note=Protein Shroom1

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
Q2M3G43454131852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G43454131852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G44146031852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G44146031852ChainID=PRO_0000286061;Note=Protein Shroom1
Q2M3G4414603543825DomainNote=ASD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00638
Q2M3G4414603543825DomainNote=ASD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00638


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3'-UTR located exon skipping events that lost miRNA binding sites in SHROOM1

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
MayoENST00000378679132826277132826587hsa-miR-6734-3pchr5:132826413-1328264208mer-1achr5:132826396-132826420151.00-22.26
MayoENST00000378679132826277132826587hsa-miR-4257chr5:132826385-1328263928mer-1achr5:132826385-132826407149.00-32.25
MayoENST00000378679132826277132826587hsa-miR-6745chr5:132826535-1328265428mer-1achr5:132826523-132826542165.00-25.78
MayoENST00000378679132826277132826587hsa-miR-4487chr5:132826428-1328264358mer-1achr5:132826423-132826445167.00-29.50
MayoENST00000378679132826277132826587hsa-miR-8052chr5:132826371-1328263788mer-1achr5:132826361-132826382163.00-30.11
MayoENST00000378679132826277132826587hsa-miR-7106-3pchr5:132826378-1328263858mer-1achr5:132826364-132826388154.00-30.24
MayoENST00000378679132826277132826587hsa-miR-6763-5pchr5:132826521-1328265288mer-1achr5:132826521-132826542155.00-32.29
MayoENST00000378679132826277132826587hsa-miR-1266-5pchr5:132826476-1328264838mer-1achr5:132826472-132826492158.00-25.08
MayoENST00000378679132826277132826587hsa-miR-4516chr5:132826568-1328265758mer-1achr5:132826558-132826575150.00-19.47
MayoENST00000378679132826277132826587hsa-miR-4717-3pchr5:132826573-1328265808mer-1achr5:132826559-132826580146.00-16.48
MayoENST00000378679132826277132826587hsa-miR-4518chr5:132826476-1328264838mer-1achr5:132826472-132826492158.00-25.08
MayoENST00000378679132826277132826587hsa-miR-4522chr5:132826330-1328263378mer-1achr5:132826327-132826345151.00-28.17
MayoENST00000378679132826277132826587hsa-miR-5010-5pchr5:132826314-1328263218mer-1achr5:132826300-132826321164.00-25.97
MayoENST00000378679132826277132826587hsa-miR-6780a-3pchr5:132826356-1328263638mer-1achr5:132826335-132826364151.00-27.23
MayoENST00000378679132826277132826587hsa-miR-4525chr5:132826314-1328263218mer-1achr5:132826300-132826321164.00-25.97
MayoENST00000378679132826277132826587hsa-miR-637chr5:132826316-1328263238mer-1achr5:132826300-132826323158.00-25.72
MayoENST00000378679132826277132826587hsa-miR-6791-5pchr5:132826375-1328263828mer-1achr5:132826361-132826382163.00-30.11
MayoENST00000378679132826277132826587hsa-miR-4434chr5:132826568-1328265758mer-1achr5:132826558-132826575150.00-19.47
MayoENST00000378679132826277132826587hsa-miR-5703chr5:132826568-1328265758mer-1achr5:132826558-132826575150.00-19.47
MayoENST00000378679132826277132826587hsa-miR-10401-5pchr5:132826457-1328264648mer-1achr5:132826444-132826464155.00-23.38
MayoENST00000378679132826277132826587hsa-miR-6814-5pchr5:132826338-1328263458mer-1achr5:132826327-132826345151.00-28.17
MayoENST00000378679132826277132826587hsa-miR-3199chr5:132826371-1328263788mer-1achr5:132826361-132826382163.00-30.11
MayoENST00000378679132826277132826587hsa-miR-4763-3pchr5:132826438-1328264458mer-1achr5:132826423-132826445167.00-29.50
MayoENST00000378679132826277132826587hsa-miR-6825-5pchr5:132826520-1328265278mer-1achr5:132826514-132826534156.00-25.53
MayoENST00000378679132826277132826587hsa-miR-3150a-3pchr5:132826521-1328265288mer-1achr5:132826521-132826542155.00-32.29
MayoENST00000378679132826277132826587hsa-miR-3151-3pchr5:132826343-1328263508mer-1achr5:132826335-132826364151.00-27.23
MayoENST00000378679132826277132826587hsa-miR-1207-5pchr5:132826438-1328264458mer-1achr5:132826423-132826445167.00-29.50
MayoENST00000378679132826277132826587hsa-miR-147achr5:132826458-1328264658mer-1achr5:132826450-132826472149.00-15.57
MayoENST00000378679132826277132826587hsa-miR-4292chr5:132826375-1328263828mer-1achr5:132826361-132826382163.00-30.11
MayoENST00000378679132826277132826587hsa-miR-363-5pchr5:132826535-1328265428mer-1achr5:132826523-132826542165.00-25.78
ROSMAPENST00000378679132826277132826587hsa-miR-6734-3pchr5:132826413-1328264208mer-1achr5:132826396-132826420151.00-22.26
ROSMAPENST00000378679132826277132826587hsa-miR-4257chr5:132826385-1328263928mer-1achr5:132826385-132826407149.00-32.25
ROSMAPENST00000378679132826277132826587hsa-miR-6745chr5:132826535-1328265428mer-1achr5:132826523-132826542165.00-25.78
ROSMAPENST00000378679132826277132826587hsa-miR-4487chr5:132826428-1328264358mer-1achr5:132826423-132826445167.00-29.50
ROSMAPENST00000378679132826277132826587hsa-miR-8052chr5:132826371-1328263788mer-1achr5:132826361-132826382163.00-30.11
ROSMAPENST00000378679132826277132826587hsa-miR-7106-3pchr5:132826378-1328263858mer-1achr5:132826364-132826388154.00-30.24
ROSMAPENST00000378679132826277132826587hsa-miR-6763-5pchr5:132826521-1328265288mer-1achr5:132826521-132826542155.00-32.29
ROSMAPENST00000378679132826277132826587hsa-miR-1266-5pchr5:132826476-1328264838mer-1achr5:132826472-132826492158.00-25.08
ROSMAPENST00000378679132826277132826587hsa-miR-4516chr5:132826568-1328265758mer-1achr5:132826558-132826575150.00-19.47
ROSMAPENST00000378679132826277132826587hsa-miR-4717-3pchr5:132826573-1328265808mer-1achr5:132826559-132826580146.00-16.48
ROSMAPENST00000378679132826277132826587hsa-miR-4518chr5:132826476-1328264838mer-1achr5:132826472-132826492158.00-25.08
ROSMAPENST00000378679132826277132826587hsa-miR-4522chr5:132826330-1328263378mer-1achr5:132826327-132826345151.00-28.17
ROSMAPENST00000378679132826277132826587hsa-miR-5010-5pchr5:132826314-1328263218mer-1achr5:132826300-132826321164.00-25.97
ROSMAPENST00000378679132826277132826587hsa-miR-6780a-3pchr5:132826356-1328263638mer-1achr5:132826335-132826364151.00-27.23
ROSMAPENST00000378679132826277132826587hsa-miR-4525chr5:132826314-1328263218mer-1achr5:132826300-132826321164.00-25.97
ROSMAPENST00000378679132826277132826587hsa-miR-637chr5:132826316-1328263238mer-1achr5:132826300-132826323158.00-25.72
ROSMAPENST00000378679132826277132826587hsa-miR-6791-5pchr5:132826375-1328263828mer-1achr5:132826361-132826382163.00-30.11
ROSMAPENST00000378679132826277132826587hsa-miR-4434chr5:132826568-1328265758mer-1achr5:132826558-132826575150.00-19.47
ROSMAPENST00000378679132826277132826587hsa-miR-5703chr5:132826568-1328265758mer-1achr5:132826558-132826575150.00-19.47
ROSMAPENST00000378679132826277132826587hsa-miR-10401-5pchr5:132826457-1328264648mer-1achr5:132826444-132826464155.00-23.38
ROSMAPENST00000378679132826277132826587hsa-miR-6814-5pchr5:132826338-1328263458mer-1achr5:132826327-132826345151.00-28.17
ROSMAPENST00000378679132826277132826587hsa-miR-3199chr5:132826371-1328263788mer-1achr5:132826361-132826382163.00-30.11
ROSMAPENST00000378679132826277132826587hsa-miR-4763-3pchr5:132826438-1328264458mer-1achr5:132826423-132826445167.00-29.50
ROSMAPENST00000378679132826277132826587hsa-miR-6825-5pchr5:132826520-1328265278mer-1achr5:132826514-132826534156.00-25.53
ROSMAPENST00000378679132826277132826587hsa-miR-3150a-3pchr5:132826521-1328265288mer-1achr5:132826521-132826542155.00-32.29
ROSMAPENST00000378679132826277132826587hsa-miR-3151-3pchr5:132826343-1328263508mer-1achr5:132826335-132826364151.00-27.23
ROSMAPENST00000378679132826277132826587hsa-miR-1207-5pchr5:132826438-1328264458mer-1achr5:132826423-132826445167.00-29.50
ROSMAPENST00000378679132826277132826587hsa-miR-147achr5:132826458-1328264658mer-1achr5:132826450-132826472149.00-15.57
ROSMAPENST00000378679132826277132826587hsa-miR-4292chr5:132826375-1328263828mer-1achr5:132826361-132826382163.00-30.11
ROSMAPENST00000378679132826277132826587hsa-miR-363-5pchr5:132826535-1328265428mer-1achr5:132826523-132826542165.00-25.78

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SNVs in the skipped exons for SHROOM1

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 SHROOM1

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 SHROOM1

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 SHROOM1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBZNF638exon_skip_2029115.905379e-012.553116e-16
CBRBM6exon_skip_2029115.300146e-016.753056e-13
CBTRA2Aexon_skip_2029115.473444e-018.302795e-14
CBFUBP1exon_skip_2029114.079094e-019.452900e-08
CBTARDBPexon_skip_271597-4.778248e-013.692733e-10
CBPCBP1exon_skip_271597-4.372944e-011.422884e-08
CBPCBP2exon_skip_271597-4.007272e-012.606863e-07
CBHNRNPCexon_skip_271597-4.808624e-012.753888e-10
CBHNRNPLexon_skip_271597-4.063697e-011.701805e-07
TCRBM4exon_skip_269518-4.358152e-019.049485e-07
TCRBM4exon_skip_96912-4.366105e-018.599955e-07

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RelatedDrugs for SHROOM1

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 SHROOM1

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