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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 MBNL2

check button Gene summary
Gene informationGene symbol

MBNL2

Gene ID

10150

Gene namemuscleblind like splicing regulator 2
SynonymsMBLL|MBLL39|PRO2032
Cytomap

13q32.1

Type of geneprotein-coding
Descriptionmuscleblind-like protein 2muscleblind-like 2muscleblind-like protein 1muscleblind-like protein-like 39
Modification date20200313
UniProtAcc

A0PJJ3,

A2A3S3,

O95205,

Q5JSC0,

Q5VZF2,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
MBNL2

GO:0043484

regulation of RNA splicing

15257297|16946708


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Gene structures and expression levels for MBNL2

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

ENSG00000139793
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
CBUPENST00000449284.1MBNL2-205:protein_coding:MBNL24.317064e+018.697619e-014.642898e-065.501650e-05
CBUPENST00000469707.5MBNL2-206:nonsense_mediated_decay:MBNL24.399420e+011.078229e+001.205151e-048.670301e-04
TCDOWNENST00000397601.5MBNL2-204:protein_coding:MBNL28.087635e+02-2.476155e+009.605246e-049.601477e-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 MBNL2

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_108297chr1397357482:97357635:97365136:97365171:97391322:9739159997365136:97365171
exon_skip_109877chr1397347041:97347067:97356796:97356849:97357482:9735763597356796:97356849
exon_skip_124028chr1397222355:97222531:97275632:97276409:97334276:9733444097275632:97276409
exon_skip_147225chr1397343016:97343216:97346804:97347067:97357482:9735763597346804:97347067
exon_skip_167423chr1397357482:97357635:97365136:97365171:97391322:9739151297365136:97365171
exon_skip_183532chr1397357587:97357635:97365136:97365171:97391322:9739159997365136:97365171
exon_skip_18439chr1397343032:97343216:97346804:97347067:97357482:9735763597346804:97347067
exon_skip_190362chr1397357482:97357635:97366459:97366553:97391322:9739159997366459:97366553
exon_skip_201704chr1397357587:97357635:97366459:97366553:97391322:9739159997366459:97366553
exon_skip_224969chr1397365136:97365171:97366459:97366553:97391322:9739159997366459:97366553
exon_skip_258174chr1397365136:97365171:97366459:97366553:97391322:9739151297366459:97366553
exon_skip_44342chr1397357587:97357635:97365136:97365171:97366459:9736655397365136:97365171
exon_skip_45243chr1397357482:97357635:97366459:97366553:97391322:9739151297366459:97366553
exon_skip_65077chr1397357482:97357635:97365136:97365171:97366459:9736655397365136:97365171
exon_skip_8701chr1397275632:97276409:97334276:97334440:97343016:9734321697334276:97334440

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_183532MSBB_PG2.248889e-013.683019e-01-1.434130e-012.308850e-05
exon_skip_245608MSBB_PG3.256115e-014.837037e-01-1.580922e-012.109616e-05
exon_skip_44342Mayo_TC3.730864e-015.187692e-01-1.456828e-019.255721e-06


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Open reading frame (ORF) annotation in the exon skipping event for MBNL2

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
ENST0000037667397275632972764095CDS-5UTR
ENST000003766739733427697334440In-frame
ENST000003766739734680497347067In-frame
ENST000003766739736513697365171In-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
ENST000003766739734680497347067In-frame
ENST000003766739736513697365171In-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
ENST0000037667397275632972764095CDS-5UTR
ENST000003766739733427697334440In-frame
ENST000003766739734680497347067In-frame
ENST000003766739736513697365171In-frame

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Infer the effects of exon skipping event on protein functional features for MBNL2

p-ENSG00000139793_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
ENST00000376673464937397334276973344401016117958113
ENST000003766734649373973468049734706713821644180268
ENST000003766734649373973651369736517118001834320331

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
ENST000003766734649373973468049734706713821644180268
ENST000003766734649373973651369736517118001834320331

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
ENST00000376673464937397334276973344401016117958113
ENST000003766734649373973468049734706713821644180268
ENST000003766734649373973651369736517118001834320331

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
Q5VZF2581131373ChainID=PRO_0000274872;Note=Muscleblind-like protein 2
Q5VZF2581135458HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RPP
Q5VZF2581137381HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RPP
Q5VZF2581134773Zinc fingerNote=C3H1-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723
Q5VZF2180268176181Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268198200Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268214217Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF21802681373ChainID=PRO_0000274872;Note=Muscleblind-like protein 2
Q5VZF2180268184187HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268193196HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268219223HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268254254Sequence conflictNote=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VZF2180268210212TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268176204Zinc fingerNote=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723
Q5VZF2180268212238Zinc fingerNote=C3H1-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723
Q5VZF2320331320331Alternative sequenceID=VSP_022888;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:17974005
Q5VZF23203311373ChainID=PRO_0000274872;Note=Muscleblind-like protein 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
Q5VZF2180268176181Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268198200Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268214217Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF21802681373ChainID=PRO_0000274872;Note=Muscleblind-like protein 2
Q5VZF2180268184187HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268193196HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268219223HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268254254Sequence conflictNote=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VZF2180268210212TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268176204Zinc fingerNote=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723
Q5VZF2180268212238Zinc fingerNote=C3H1-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723
Q5VZF2320331320331Alternative sequenceID=VSP_022888;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:17974005
Q5VZF23203311373ChainID=PRO_0000274872;Note=Muscleblind-like protein 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
Q5VZF2581131373ChainID=PRO_0000274872;Note=Muscleblind-like protein 2
Q5VZF2581135458HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RPP
Q5VZF2581137381HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RPP
Q5VZF2581134773Zinc fingerNote=C3H1-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723
Q5VZF2180268176181Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268198200Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268214217Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF21802681373ChainID=PRO_0000274872;Note=Muscleblind-like protein 2
Q5VZF2180268184187HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268193196HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268219223HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268254254Sequence conflictNote=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VZF2180268210212TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S
Q5VZF2180268176204Zinc fingerNote=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723
Q5VZF2180268212238Zinc fingerNote=C3H1-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723
Q5VZF2320331320331Alternative sequenceID=VSP_022888;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:17974005
Q5VZF23203311373ChainID=PRO_0000274872;Note=Muscleblind-like protein 2


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3'-UTR located exon skipping events that lost miRNA binding sites in MBNL2

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 MBNL2

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 MBNL2

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 MBNL2

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 MBNL2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBNUP42exon_skip_1098774.720551e-011.580965e-09
CBRBM45exon_skip_650775.474851e-013.686102e-12
CBNUP42exon_skip_650775.508475e-012.557803e-12
CBRBM45exon_skip_1082974.265512e-011.083906e-07
CBNUP42exon_skip_1082974.837141e-019.364637e-10
CBSRSF2exon_skip_2456084.024256e-013.972996e-07
CBRBM6exon_skip_245608-4.842654e-014.490453e-10
CBRBM45exon_skip_2456085.857095e-015.314655e-15
CBNUP42exon_skip_2456086.407056e-011.792120e-18
CBRBM4exon_skip_245608-5.382169e-011.727427e-12
CBSRSF2exon_skip_1903624.403679e-013.719025e-08
CBRBM4exon_skip_190362-5.041108e-011.375232e-10
CBCNOT4exon_skip_224969-5.165961e-011.210921e-10
CBRBM4exon_skip_224969-5.880823e-015.165149e-14
FLRBFOX2exon_skip_650774.898700e-014.621091e-10
FLELAVL4exon_skip_650774.584897e-017.520293e-09
FLRBFOX2exon_skip_1082975.295974e-013.345541e-15
FLELAVL4exon_skip_1082974.922923e-014.718055e-13
HCCRBFOX2exon_skip_650774.820544e-011.553782e-16
HCCRBFOX2exon_skip_1082974.935167e-015.561351e-18
HCCRBM45exon_skip_108297-4.703490e-012.874254e-16
HCCRBFOX2exon_skip_2456084.927329e-016.386978e-18
HCCRBM6exon_skip_245608-5.694993e-011.297700e-24
HCCCNOT4exon_skip_245608-4.132404e-011.466869e-12
HCCRBM45exon_skip_245608-4.338160e-018.126706e-14
HCCRBM4exon_skip_245608-5.652163e-013.415615e-24
HCCZC3H10exon_skip_245608-5.676420e-011.977832e-24
IFGRBFOX2exon_skip_650777.104664e-013.293206e-05
IFGELAVL4exon_skip_650776.747139e-011.133701e-04
IFGCELF1exon_skip_650774.528650e-011.768933e-02
IFGRBFOX2exon_skip_1082975.392003e-013.068015e-03
IFGELAVL4exon_skip_1082975.334437e-013.464257e-03
IFGIGF2BP2exon_skip_2249694.459461e-011.973090e-02
IFGA1CFexon_skip_2249694.440536e-012.032173e-02
PCCRBFOX2exon_skip_650775.927405e-015.574305e-20
PCCELAVL4exon_skip_650774.987794e-011.005731e-13
PCCRBFOX2exon_skip_1082975.659682e-011.133132e-18
PCCELAVL4exon_skip_1082974.414998e-013.846229e-11
PCCRBFOX2exon_skip_2456085.609010e-011.815033e-18
PGRBFOX2exon_skip_1835326.754346e-012.134349e-26
PGELAVL4exon_skip_1835326.552593e-011.943201e-24
PGNUP42exon_skip_1835324.138836e-013.549363e-09
PGCELF1exon_skip_1835325.285736e-016.365739e-15
PGRBFOX2exon_skip_2456086.220284e-014.693335e-22
PGELAVL4exon_skip_2456085.574592e-013.750784e-17
STGRBFOX2exon_skip_1835324.195316e-015.799988e-05
STGELAVL4exon_skip_1835324.372635e-012.557700e-05
STGSNRPAexon_skip_2017044.234828e-015.977142e-05
TCRBFOX2exon_skip_443427.760220e-011.274247e-30
TCELAVL4exon_skip_443428.322567e-011.023081e-38
TCNUP42exon_skip_443426.388078e-014.126693e-18
TCCELF1exon_skip_443424.619696e-014.372090e-09
TCRBFOX2exon_skip_1835327.595281e-013.962138e-31
TCELAVL4exon_skip_1835327.699674e-011.908585e-32
TCNUP42exon_skip_1835326.283673e-017.542140e-19
TCCELF1exon_skip_1835325.008274e-011.780107e-11
TCRBM6exon_skip_224969-4.179932e-011.362110e-06

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RelatedDrugs for MBNL2

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 MBNL2

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