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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 DTNB

check button Gene summary
Gene informationGene symbol

DTNB

Gene ID

1838

Gene namedystrobrevin beta
Synonyms-
Cytomap

2p23.3

Type of geneprotein-coding
Descriptiondystrobrevin betaDTN-Bbeta-dystrobrevin
Modification date20200327
UniProtAcc

E7ES64,

E7EVB6,

E9PE76,

E9PEY4,

F8W9U0,

F8WD22,

O60941,

Q1I0L3,

Q53QV1,

Q53SF9,

Q53T51,

Q53TC8,

Context- 11222629(Oxidative Regulation of Large Conductance Calcium-Activated Potassium Channels)

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 DTNB

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

ENSG00000138101
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
PGUPENST00000472690.5DTNB-213:lncRNA:DTNB8.558506e+008.836796e-012.446501e-032.755892e-02
CBDOWNENST00000497476.5DTNB-229:lncRNA:DTNB2.492017e+01-2.211890e+008.422148e-071.295194e-05
CBDOWNENST00000356599.9DTNB-204:nonsense_mediated_decay:DTNB9.213445e+01-8.998379e-016.535782e-055.160597e-04
CBDOWNENST00000406818.7DTNB-208:protein_coding:DTNB9.756820e+00-2.969282e+002.301574e-031.035627e-02
TCDOWNENST00000486555.5DTNB-220:lncRNA:DTNB8.657838e+00-1.150863e+004.208625e-058.107011e-04
TCDOWNENST00000473113.1DTNB-214:lncRNA:DTNB1.229359e+00-1.103211e+003.474454e-044.316972e-03
TCDOWNENST00000497476.5DTNB-229:lncRNA:DTNB8.085487e+01-1.009154e+004.770384e-045.544997e-03
TCDOWNENST00000489756.1DTNB-223:lncRNA:DTNB6.797454e+00-1.148846e+005.803802e-046.473790e-03
TCDOWNENST00000406818.7DTNB-208:protein_coding:DTNB2.891567e+01-1.849467e+005.434889e-033.567652e-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 DTNB

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_116435chr225580721:25580826:25607236:25607321:25628171:2562838425607236:25607321
exon_skip_157284chr225455405:25455494:25482796:25482873:25531473:2553159725482796:25482873
exon_skip_158899chr225388318:25388361:25419515:25419535:25427535:2542758025419515:25419535
exon_skip_166248chr225639014:25639094:25652594:25652661:25673386:2567342925652594:25652661
exon_skip_170073chr225379290:25379323:25387289:25387378:25388202:2538836125387289:25387378
exon_skip_172237chr225628183:25628384:25639014:25639094:25652594:2565266125639014:25639094
exon_skip_172307chr225433910:25433995:25451548:25451635:25482796:2548287325451548:25451635
exon_skip_174434chr225379290:25379323:25383836:25383889:25388202:2538836125383836:25383889
exon_skip_17897chr225419515:25419535:25427535:25427631:25432886:2543299925427535:25427631
exon_skip_199072chr225607287:25607321:25628171:25628384:25639014:2563909425628171:25628384
exon_skip_227533chr225580721:25580826:25596086:25596240:25628171:2562838425596086:25596240
exon_skip_233070chr225427535:25427631:25432886:25432999:25433910:2543399525432886:25432999
exon_skip_239173chr225388318:25388361:25419515:25419535:25427535:2542763125419515:25419535
exon_skip_23988chr225596124:25596240:25607236:25607321:25628171:2562838425607236:25607321
exon_skip_256634chr225383836:25383889:25388202:25388361:25427535:2542763125388202:25388361
exon_skip_267019chr225383836:25383889:25388202:25388361:25419515:2541953525388202:25388361
exon_skip_27143chr225580721:25580826:25596086:25596240:25607236:2560729325596086:25596240
exon_skip_274969chr225628183:25628384:25639014:25639094:25652594:2565266025639014:25639094
exon_skip_280420chr225451551:25451635:25482796:25482873:25531473:2553159725482796:25482873
exon_skip_293195chr225580721:25580826:25628171:25628384:25639014:2563908625628171:25628384
exon_skip_293523chr225383836:25383889:25387289:25387378:25388202:2538836125387289:25387378
exon_skip_40367chr225482796:25482873:25531473:25531597:25576838:2557700425531473:25531597
exon_skip_51695chr225451548:25451635:25482796:25482873:25531473:2553159725482796:25482873
exon_skip_63402chr225451551:25451635:25455405:25455494:25482796:2548287325455405:25455494
exon_skip_76420chr225451548:25451635:25455405:25455494:25482796:2548287325455405:25455494
exon_skip_95410chr225379290:25379323:25383836:25383889:25387289:2538737825383836:25383889

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_174434Mayo_CB4.626829e-016.151316e-01-1.524487e-017.684476e-05
exon_skip_170073Mayo_CB6.602439e-018.068831e-01-1.466392e-015.273484e-05


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

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
ENST000004068182553147325531597Frame-shift
ENST000004068182559608625596240Frame-shift
ENST000004068182560723625607321Frame-shift
ENST000004068182538383625383889In-frame
ENST000004068182538728925387378In-frame
ENST000004068182541951525419535In-frame
ENST000004068182545540525455494In-frame
ENST000004068182548279625482873In-frame
ENST000004068182563901425639094In-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
ENST000004068182553147325531597Frame-shift
ENST000004068182559608625596240Frame-shift
ENST000004068182560723625607321Frame-shift
ENST000004068182538383625383889In-frame
ENST000004068182538728925387378In-frame
ENST000004068182541951525419535In-frame
ENST000004068182545540525455494In-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
ENST0000040681825652594256526613UTR-3CDS
ENST000004068182542753525427631Frame-shift
ENST000004068182553147325531597Frame-shift
ENST000004068182559608625596240Frame-shift
ENST000004068182560723625607321Frame-shift
ENST000004068182562817125628384Frame-shift
ENST000004068182538383625383889In-frame
ENST000004068182538728925387378In-frame
ENST000004068182541951525419535In-frame
ENST000004068182543288625432999In-frame
ENST000004068182545540525455494In-frame
ENST000004068182548279625482873In-frame
ENST000004068182563901425639094In-frame

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

p-ENSG00000138101_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
ENST00000406818249162725639014256390943183972249
ENST000004068182491627254827962548287312521328334359
ENST000004068182491627254554052545549413301418360389
ENST000004068182491627253872892538737819862074578608
ENST000004068182491627253838362538388920762128608626

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
ENST000004068182491627254554052545549413301418360389
ENST000004068182491627253872892538737819862074578608
ENST000004068182491627253838362538388920762128608626

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
ENST00000406818249162725639014256390943183972249
ENST000004068182491627254827962548287312521328334359
ENST000004068182491627254554052545549413301418360389
ENST000004068182491627254328862543299915941706448485
ENST000004068182491627253872892538737819862074578608
ENST000004068182491627253838362538388920762128608626

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
O609412249157Alternative sequenceID=VSP_045534;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O6094122491627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O609413343591627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O60941360389360390Alternative sequenceID=VSP_004223;Note=In isoform 2 and isoform 5. RLQYSQDIPSHLADEHALIASYVARLQHCAR->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:9540997
O609413603891627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O60941578608559627Alternative sequenceID=VSP_004225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9540997;Dbxref=PMID:9540997
O60941578608579608Alternative sequenceID=VSP_004226;Note=In isoform 2%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3,ECO:0000303|Ref.8;Dbxref=PMID:15489334,PMID
O609415786081627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O60941608626559627Alternative sequenceID=VSP_004225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9540997;Dbxref=PMID:9540997
O60941608626579608Alternative sequenceID=VSP_004226;Note=In isoform 2%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3,ECO:0000303|Ref.8;Dbxref=PMID:15489334,PMID
O60941608626609626Alternative sequenceID=VSP_045535;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O609416086261627ChainID=PRO_0000086878;Note=Dystrobrevin beta

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
O60941360389360390Alternative sequenceID=VSP_004223;Note=In isoform 2 and isoform 5. RLQYSQDIPSHLADEHALIASYVARLQHCAR->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:9540997
O609413603891627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O60941578608559627Alternative sequenceID=VSP_004225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9540997;Dbxref=PMID:9540997
O60941578608579608Alternative sequenceID=VSP_004226;Note=In isoform 2%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3,ECO:0000303|Ref.8;Dbxref=PMID:15489334,PMID
O609415786081627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O60941608626559627Alternative sequenceID=VSP_004225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9540997;Dbxref=PMID:9540997
O60941608626579608Alternative sequenceID=VSP_004226;Note=In isoform 2%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3,ECO:0000303|Ref.8;Dbxref=PMID:15489334,PMID
O60941608626609626Alternative sequenceID=VSP_045535;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O609416086261627ChainID=PRO_0000086878;Note=Dystrobrevin beta

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
O609412249157Alternative sequenceID=VSP_045534;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O6094122491627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O609413343591627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O60941360389360390Alternative sequenceID=VSP_004223;Note=In isoform 2 and isoform 5. RLQYSQDIPSHLADEHALIASYVARLQHCAR->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:9540997
O609413603891627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O609414484851627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O60941448485428529Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60941448485399448RegionNote=Syntrophin-binding region
O60941578608559627Alternative sequenceID=VSP_004225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9540997;Dbxref=PMID:9540997
O60941578608579608Alternative sequenceID=VSP_004226;Note=In isoform 2%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3,ECO:0000303|Ref.8;Dbxref=PMID:15489334,PMID
O609415786081627ChainID=PRO_0000086878;Note=Dystrobrevin beta
O60941608626559627Alternative sequenceID=VSP_004225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9540997;Dbxref=PMID:9540997
O60941608626579608Alternative sequenceID=VSP_004226;Note=In isoform 2%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9540997,ECO:0000303|Ref.3,ECO:0000303|Ref.8;Dbxref=PMID:15489334,PMID
O60941608626609626Alternative sequenceID=VSP_045535;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
O609416086261627ChainID=PRO_0000086878;Note=Dystrobrevin beta


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

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 DTNB

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 DTNB

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 DTNB

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
CBexon_skip_174434rs6746082chr2:254363754.382289e-058.789695e-03
CBexon_skip_170073rs6746082chr2:254363754.496477e-058.997415e-03
TCexon_skip_63402rs6546199chr2:254605784.256941e-058.236994e-03
HCCexon_skip_170073rs1006752chr2:254411223.731118e-042.688712e-02

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Correlation with RNA binding proteins (RBPs) for DTNB

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRBM3exon_skip_1744345.109984e-016.880100e-12
CBTRA2Aexon_skip_174434-4.527991e-012.323714e-09
CBRBM6exon_skip_170073-4.373394e-018.210370e-09
CBRBM3exon_skip_1700734.942786e-013.557679e-11
CBPCBP4exon_skip_1700735.383117e-012.512905e-13
DLPFCRBM3exon_skip_1744344.915064e-011.024919e-21
FLMSI1exon_skip_23988-4.321614e-017.855965e-08
FLELAVL4exon_skip_239884.742303e-012.496888e-09
FLFXR2exon_skip_239884.059859e-015.366675e-07
FLILF2exon_skip_239884.305408e-018.890798e-08
FLRALYLexon_skip_239884.596137e-018.727812e-09
FLSRSF9exon_skip_239884.541092e-011.377402e-08
HCCRBM5exon_skip_239173-4.428163e-011.926493e-14
IFGNOVA1exon_skip_170073-4.801623e-011.125045e-02
IFGRBMS2exon_skip_27143-4.015748e-013.416338e-02
IFGBOLLexon_skip_23988-4.685419e-011.190998e-02
IFGILF2exon_skip_239886.263287e-013.631030e-04
IFGEIF4Bexon_skip_239884.500962e-011.624665e-02
IFGHNRNPFexon_skip_239884.329969e-012.135992e-02
PCCRBM3exon_skip_1744344.593219e-011.273953e-11
PCCRBFOX2exon_skip_76420-5.899562e-013.566662e-21
TCRBM3exon_skip_1744344.412181e-011.019875e-08
TCNUP42exon_skip_2391736.130721e-016.877573e-18
TCSRSF2exon_skip_63402-4.070364e-019.223254e-08
TCRBFOX2exon_skip_63402-6.828087e-012.664993e-23

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RelatedDrugs for DTNB

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 DTNB

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