ExonSkipAD Logo

Home

Download

Statistics

Landscape

Help

Contact

Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

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

leaf

SNVs in the skipped exons with depth of coverage

leaf

AD stage-associated exon skipping events

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Correlation with RNA binding proteins (RBPs)

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for ATP1B3

check button Gene summary
Gene informationGene symbol

ATP1B3

Gene ID

483

Gene nameATPase Na+/K+ transporting subunit beta 3
SynonymsATPB-3|CD298
Cytomap

3q23

Type of geneprotein-coding
Descriptionsodium/potassium-transporting ATPase subunit beta-3ATPase, Na+/K+ transporting, beta 3 polypeptideNa, K-ATPase beta-3 polypeptidesodium pump subunit beta-3sodium-potassium ATPase subunit beta 3 (non-catalytic)sodium/potassium-dependent ATPase subunit
Modification date20200313
UniProtAcc

C9J6S2,

C9JA36,

C9JXZ1,

D3DNF9,

F8WBY4,

H7C4L9,

H7C547,

P54709,

Q58I18,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
ATP1B3

GO:0006883

cellular sodium ion homeostasis

10636900|19542013

ATP1B3

GO:0030007

cellular potassium ion homeostasis

10636900|19542013

ATP1B3

GO:0032781

positive regulation of ATPase activity

10636900

ATP1B3

GO:0036376

sodium ion export across plasma membrane

10636900|19542013

ATP1B3

GO:0050821

protein stabilization

10636900

ATP1B3

GO:0072659

protein localization to plasma membrane

18522992

ATP1B3

GO:0086009

membrane repolarization

19542013

ATP1B3

GO:1901018

positive regulation of potassium ion transmembrane transporter activity

10636900

ATP1B3

GO:1903278

positive regulation of sodium ion export across plasma membrane

10636900

ATP1B3

GO:1903288

positive regulation of potassium ion import

10636900

ATP1B3

GO:1990573

potassium ion import across plasma membrane

10636900|19542013


Top

Gene structures and expression levels for ATP1B3

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

ENSG00000069849
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
CBUPENST00000286371.8ATP1B3-201:protein_coding:ATP1B31.969778e+039.776133e-011.925100e-197.249435e-16
CBUPENST00000482635.1ATP1B3-206:retained_intron:ATP1B33.976600e+019.489664e-011.034269e-132.351344e-11
CBUPENST00000475483.5ATP1B3-205:protein_coding:ATP1B33.210583e+019.045343e-015.002135e-081.179945e-06
CBUPENST00000495216.1ATP1B3-210:protein_coding:ATP1B37.166959e+001.744661e+001.275675e-036.335411e-03
TCUPENST00000286371.8ATP1B3-201:protein_coding:ATP1B31.286975e+038.454596e-012.104574e-227.824237e-19

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ATP1B3

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_121738chr3141915970:141916020:141916555:141916574:141921977:141921992141916555:141916574
exon_skip_122281chr3141915970:141916020:141916555:141916574:141921977:141922009141916555:141916574
exon_skip_158829chr3141907167:141907274:141913652:141913836:141915970:141916010141913652:141913836
exon_skip_222521chr3141916555:141916574:141921977:141922063:141925531:141925643141921977:141922063
exon_skip_245907chr3141913800:141913836:141915970:141916020:141921977:141922063141915970:141916020
exon_skip_250167chr3141913652:141913836:141915970:141916020:141921977:141922063141915970:141916020
exon_skip_254chr3141877529:141877562:141902136:141902227:141903620:141903748141902136:141902227
exon_skip_267373chr3141876855:141876910:141902136:141902227:141903620:141903748141902136:141902227
exon_skip_269284chr3141916376:141916440:141916555:141916574:141921977:141922063141916555:141916574
exon_skip_272170chr3141915970:141916020:141916555:141916574:141921977:141922063141916555:141916574
exon_skip_54543chr3141876855:141876910:141903620:141903748:141907167:141907274141903620:141903748
exon_skip_62090chr3141915970:141916020:141921977:141922063:141925531:141925643141921977:141922063
exon_skip_72209chr3141876855:141876910:141902136:141902227:141903620:141903630141902136:141902227
exon_skip_80111chr3141903728:141903748:141907167:141907274:141913652:141913706141907167:141907274
exon_skip_88539chr3141915970:141916020:141916376:141916440:141916555:141916574141916376:141916440

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_267373ROSMAP_DLPFC2.704630e-013.762393e-01-1.057764e-011.281569e-04
exon_skip_267373ROSMAP_PCC3.204615e-014.467059e-01-1.262443e-013.947184e-05
exon_skip_72209Mayo_TC1.692683e-012.825641e-01-1.132958e-018.442541e-05


Top

Open reading frame (ORF) annotation in the exon skipping event for ATP1B3

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
ENST00000286371141913652141913836Frame-shift
ENST00000286371141903620141903748In-frame
ENST00000286371141907167141907274In-frame
ENST00000286371141915970141916020In-frame
ENST00000286371141921977141922063In-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
ENST00000286371141921977141922063In-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
ENST00000286371141913652141913836Frame-shift
ENST00000286371141903620141903748In-frame
ENST00000286371141907167141907274In-frame
ENST00000286371141915970141916020In-frame
ENST00000286371141921977141922063In-frame

Top

Infer the effects of exon skipping event on protein functional features for ATP1B3

p-ENSG00000069849_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
ENST0000028637118282791419036201419037482994263779
ENST00000286371182827914190716714190727442853480115
ENST000002863711828279141915970141916020721770177194
ENST000002863711828279141921977141922063772857194223

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
ENST000002863711828279141921977141922063772857194223

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
ENST0000028637118282791419036201419037482994263779
ENST00000286371182827914190716714190727442853480115
ENST000002863711828279141915970141916020721770177194
ENST000002863711828279141921977141922063772857194223

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
P5470937791279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P54709377957279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P5470937793656TransmembraneNote=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54709801151279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P547098011557279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P547091771941279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P54709177194191250Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P54709177194186279RegionNote=immunoglobulin-like;Ontology_term=ECO:0000250;evidence=ECO:0000250
P5470917719457279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54709194223195279Alternative sequenceID=VSP_056687;Note=In isoform 2. NEDIPNVAVYPHNGMIDLKYFPYYGKKLHVGYLQPLVAVQVSFAPNNTGKEVTVECKIDGSANLKSQDDRDKFLGRVMFKITARA->TNNVKDGMKIYQM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P547091942231279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P54709194223191250Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P54709194223186279RegionNote=immunoglobulin-like;Ontology_term=ECO:0000250;evidence=ECO:0000250
P5470919422357279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P54709194223195279Alternative sequenceID=VSP_056687;Note=In isoform 2. NEDIPNVAVYPHNGMIDLKYFPYYGKKLHVGYLQPLVAVQVSFAPNNTGKEVTVECKIDGSANLKSQDDRDKFLGRVMFKITARA->TNNVKDGMKIYQM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P547091942231279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P54709194223191250Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P54709194223186279RegionNote=immunoglobulin-like;Ontology_term=ECO:0000250;evidence=ECO:0000250
P5470919422357279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P5470937791279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P54709377957279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P5470937793656TransmembraneNote=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54709801151279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P547098011557279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P547091771941279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P54709177194191250Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P54709177194186279RegionNote=immunoglobulin-like;Ontology_term=ECO:0000250;evidence=ECO:0000250
P5470917719457279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54709194223195279Alternative sequenceID=VSP_056687;Note=In isoform 2. NEDIPNVAVYPHNGMIDLKYFPYYGKKLHVGYLQPLVAVQVSFAPNNTGKEVTVECKIDGSANLKSQDDRDKFLGRVMFKITARA->TNNVKDGMKIYQM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P547091942231279ChainID=PRO_0000219108;Note=Sodium/potassium-transporting ATPase subunit beta-3
P54709194223191250Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
P54709194223186279RegionNote=immunoglobulin-like;Ontology_term=ECO:0000250;evidence=ECO:0000250
P5470919422357279Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255


Top

3'-UTR located exon skipping events that lost miRNA binding sites in ATP1B3

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

Top

SNVs in the skipped exons for ATP1B3

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

Top

AD stage-associated exon skippint events for ATP1B3

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
ADstageROSMAPPCCexon_skip_267373-3.187540e-011.830000e-06chr3+141876855141876910141902136141902227141903620141903748

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP1B3

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
HCCexon_skip_267373rs2068229chr3:1419044626.214288e-044.023317e-02
HCCexon_skip_267373rs10755098chr3:1418849097.477586e-044.654883e-02

Top

Correlation with RNA binding proteins (RBPs) for ATP1B3

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTIA1exon_skip_2673734.089897e-018.677261e-08
CBTRA2Aexon_skip_267373-5.257621e-011.109311e-12
CBHNRNPA1exon_skip_2673735.863080e-014.673876e-16
CBNUP42exon_skip_2673735.994368e-016.948771e-17
CBTRA2Aexon_skip_145810-4.681640e-011.161885e-07
CBNUP42exon_skip_1458105.048452e-017.521577e-09
CBSRSF9exon_skip_1458104.384704e-018.524321e-07
CBTRA2Aexon_skip_20576-4.613838e-012.385819e-07
CBNUP42exon_skip_205765.240601e-012.180078e-09
CBPTBP1exon_skip_20576-4.292921e-011.879600e-06
CBPABPC1exon_skip_205765.456848e-013.416888e-10
CBSRSF9exon_skip_205764.446903e-017.167573e-07
CBRBM4exon_skip_20576-7.006198e-014.069196e-18
CBZNF638exon_skip_44317-5.697937e-011.001331e-12
CBTRA2Aexon_skip_44317-5.024094e-018.351208e-10
CBHNRNPDLexon_skip_443175.469470e-011.159786e-11
CBHNRNPDexon_skip_443174.187494e-015.825927e-07
CBNUP42exon_skip_443174.766772e-017.567329e-09
CBPABPC1exon_skip_443175.666890e-011.412385e-12
CBPABPC4exon_skip_443174.403714e-011.264441e-07
CBSRSF9exon_skip_443174.134910e-018.314798e-07
CBDAZAP1exon_skip_45499-4.844774e-011.471609e-10
CBTARDBPexon_skip_45499-4.545300e-012.516560e-09
CBELAVL1exon_skip_45499-4.102012e-011.048326e-07
CBCNOT4exon_skip_45499-4.839985e-011.543334e-10
CBTRA2Aexon_skip_45499-5.028030e-012.250897e-11
CBFUBP1exon_skip_45499-4.081599e-011.229180e-07
CBKHSRPexon_skip_45499-4.821214e-011.858517e-10
CBHNRNPABexon_skip_45499-4.733069e-014.382089e-10
CBPTBP1exon_skip_45499-4.846621e-011.444803e-10
CBRBM4exon_skip_45499-5.411756e-013.013345e-13
CBHNRNPABexon_skip_88539-4.549684e-013.457488e-09
CBPABPN1Lexon_skip_1578154.509031e-012.455590e-09
CBCNOT4exon_skip_157815-4.276752e-011.879676e-08
CBNUP42exon_skip_1578154.786785e-011.747373e-10
CBRBM4exon_skip_157815-5.269560e-019.656929e-13
CBNUP42exon_skip_2455494.469009e-017.803939e-08
CBRBM4exon_skip_245549-5.157571e-012.472126e-10
CBFUBP1exon_skip_272170-4.174145e-014.404151e-08
CBNUP42exon_skip_2721705.095100e-016.946506e-12
CBNUP42exon_skip_1087854.453153e-018.782422e-08
DLPFCELAVL4exon_skip_2673735.176994e-013.158372e-24
DLPFCRC3H1exon_skip_2673734.489380e-016.410730e-18
HCCZNF326exon_skip_267373-4.672531e-013.709106e-16
HCCRBM5exon_skip_267373-4.339147e-016.479159e-14
HCCFUBP1exon_skip_267373-4.268187e-011.811032e-13
HCCHNRNPA2B1exon_skip_267373-4.562129e-012.183072e-15
HCCHNRNPFexon_skip_267373-6.019031e-013.372437e-28
HCCDAZAP1exon_skip_157815-4.639113e-015.646966e-16
HCCMSI1exon_skip_157815-5.919792e-013.309904e-27
HCCPABPN1exon_skip_157815-4.648954e-014.812205e-16
HCCRBM47exon_skip_157815-4.958870e-012.378159e-18
HCCKHDRBS2exon_skip_1578154.070590e-012.553277e-12
HCCKHDRBS3exon_skip_157815-4.514468e-014.098569e-15
HCCHNRNPABexon_skip_157815-4.131098e-011.121658e-12
HCCPTBP1exon_skip_157815-6.418114e-014.303830e-33
HCCRBM4exon_skip_157815-4.470243e-018.122913e-15
HCCDAZAP1exon_skip_272170-4.048813e-013.419151e-12
HCCRBM47exon_skip_272170-4.747661e-019.398428e-17
IFGPABPN1Lexon_skip_267373-4.903970e-018.064687e-03
IFGFUBP1exon_skip_267373-4.193813e-012.631466e-02
IFGESRP2exon_skip_267373-4.182544e-012.676342e-02
PCCELAVL4exon_skip_2673735.747340e-012.683452e-20
PCCRALYLexon_skip_2673734.013369e-011.001137e-09
PCCHNRNPFexon_skip_267373-5.121746e-018.914175e-16
TCELAVL4exon_skip_722097.696983e-011.316058e-32
TCHNRNPA1L2exon_skip_722094.440670e-014.057136e-09
TCHNRNPDexon_skip_722095.475796e-016.726232e-14
TCNUP42exon_skip_722096.311568e-013.676574e-19
TCRALYLexon_skip_722097.618422e-011.323819e-31
TCSRSF5exon_skip_722094.045648e-011.121366e-07
TCESRP1exon_skip_722095.928495e-011.467414e-16
TCHNRNPFexon_skip_72209-4.276950e-011.691142e-08

Top

RelatedDrugs for ATP1B3

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for ATP1B3

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