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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 ATP2B4

check button Gene summary
Gene informationGene symbol

ATP2B4

Gene ID

493

Gene nameATPase plasma membrane Ca2+ transporting 4
SynonymsATP2B2|MXRA1|PMCA4|PMCA4b|PMCA4x
Cytomap

1q32.1

Type of geneprotein-coding
Descriptionplasma membrane calcium-transporting ATPase 4ATPase, Ca++ transporting, plasma membrane 4matrix-remodeling-associated protein 1sarcolemmal calcium pump
Modification date20200327
UniProtAcc

A0A024R968,

A1X4Q1,

A1X4Q2,

A7E2D8,

H0YDG5,

H7BY13,

H7BZS8,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
ATP2B4

GO:0006874

cellular calcium ion homeostasis

19278978|25798335

ATP2B4

GO:0010629

negative regulation of gene expression

25147342

ATP2B4

GO:0010751

negative regulation of nitric oxide mediated signal transduction

19278978

ATP2B4

GO:0016525

negative regulation of angiogenesis

25147342

ATP2B4

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19278978

ATP2B4

GO:0043537

negative regulation of blood vessel endothelial cell migration

25147342

ATP2B4

GO:0045019

negative regulation of nitric oxide biosynthetic process

11591728|19278978

ATP2B4

GO:0051001

negative regulation of nitric-oxide synthase activity

11591728|17242280|19278978|19287093

ATP2B4

GO:0070885

negative regulation of calcineurin-NFAT signaling cascade

19287093|25147342

ATP2B4

GO:0071872

cellular response to epinephrine stimulus

19278978

ATP2B4

GO:0098736

negative regulation of the force of heart contraction

17242280

ATP2B4

GO:0140199

negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process

17242280

ATP2B4

GO:1900082

negative regulation of arginine catabolic process

19278978

ATP2B4

GO:1901660

calcium ion export

25798335

ATP2B4

GO:1902548

negative regulation of cellular response to vascular endothelial growth factor stimulus

25147342

ATP2B4

GO:1903078

positive regulation of protein localization to plasma membrane

15955804

ATP2B4

GO:1903249

negative regulation of citrulline biosynthetic process

19278978

ATP2B4

GO:2000481

positive regulation of cAMP-dependent protein kinase activity

19278978


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Gene structures and expression levels for ATP2B4

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

ENSG00000058668
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
CBUPENST00000367218.7ATP2B4-204:protein_coding:ATP2B41.900110e+038.131579e-011.825925e-062.502685e-05
TCUPENST00000357681.9ATP2B4-203:protein_coding:ATP2B41.336173e+039.166636e-011.119520e-076.678089e-06

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 ATP2B4

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_179483chr1203722478:203722689:203723881:203723988:203727395:203727571203723881:203723988
exon_skip_211144chr1203682809:203683398:203698157:203698354:203699460:203699717203698157:203698354
exon_skip_211896chr1203703652:203703813:203707009:203707223:203707862:203708104203707009:203707223
exon_skip_244746chr1203727395:203727571:203733223:203733400:203739546:203744081203733223:203733400
exon_skip_274057chr1203700798:203700923:203702044:203702079:203703652:203703813203702044:203702079
exon_skip_30449chr1203711960:203712139:203713165:203713252:203714171:203714277203713165:203713252
exon_skip_8113chr1203727395:203727571:203733223:203733400:203739546:203739572203733223:203733400

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_244746MSBB_PG5.517037e-016.980000e-01-1.462963e-015.899727e-03
exon_skip_8113Mayo_TC4.101220e-015.414493e-01-1.313273e-011.366665e-04


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Open reading frame (ORF) annotation in the exon skipping event for ATP2B4

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

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

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

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Infer the effects of exon skipping event on protein functional features for ATP2B4

p-ENSG00000058668_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

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

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

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

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

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


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3'-UTR located exon skipping events that lost miRNA binding sites in ATP2B4

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 ATP2B4

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 ATP2B4

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
ADstageMSBBIFGexon_skip_30449-4.260682e-012.377595e-02chr1+203711960203712139203713165203713252203714171203714277
CDRMSBBIFGexon_skip_30449-5.441951e-012.756331e-03chr1+203711960203712139203713165203713252203714171203714277

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP2B4

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 ATP2B4

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBMSI1exon_skip_244746-5.833859e-011.100405e-14
CBRALYLexon_skip_2447465.310120e-015.391741e-12
DLPFCRBMS2exon_skip_244746-6.147740e-014.836944e-29
DLPFCMSI1exon_skip_244746-4.959316e-016.417926e-18
DLPFCKHDRBS2exon_skip_2447465.809485e-012.088687e-25
DLPFCHNRNPFexon_skip_244746-4.121108e-012.498915e-12
FLRBMS2exon_skip_244746-4.092205e-012.852434e-09
FLSRSF2exon_skip_2447465.121938e-011.954777e-14
FLMSI1exon_skip_244746-5.988618e-012.306765e-20
FLFXR2exon_skip_2447464.944958e-012.022951e-13
FLRBM24exon_skip_2447464.911055e-013.117546e-13
FLHNRNPA0exon_skip_2447465.168859e-011.028128e-14
FLPUM1exon_skip_2447464.596003e-011.392666e-11
FLRALYLexon_skip_2447466.369824e-011.378922e-23
FLEIF4G2exon_skip_2447464.373273e-011.631719e-10
FLRBM23exon_skip_2447464.092672e-012.839520e-09
HCCRBMS2exon_skip_244746-5.847477e-012.413318e-26
HCCMSI1exon_skip_244746-5.782659e-011.135428e-25
HCCRBM6exon_skip_244746-5.084899e-012.724021e-19
HCCTRNAU1APexon_skip_244746-4.034030e-014.558517e-12
HCCPCBP4exon_skip_244746-4.982177e-011.802672e-18
HCCUNKexon_skip_244746-4.849218e-011.896712e-17
HCCKHDRBS2exon_skip_2447464.256895e-012.128154e-13
HCCEIF4G2exon_skip_244746-4.272048e-011.713568e-13
HCCSRSF4exon_skip_244746-4.024529e-015.168868e-12
HCCSRSF5exon_skip_244746-4.224131e-013.387402e-13
HCCHNRNPFexon_skip_244746-5.333317e-012.147461e-21
IFGIGF2BP2exon_skip_244746-4.364514e-012.023269e-02
IFGRBM47exon_skip_244746-4.345322e-012.085274e-02
IFGRBM46exon_skip_244746-4.176222e-012.701790e-02
IFGKHDRBS2exon_skip_2447465.322924e-013.548551e-03
IFGRBM24exon_skip_2447465.767186e-011.315773e-03
IFGRALYLexon_skip_2447465.635553e-011.790997e-03
PCCRBMS2exon_skip_244746-7.188008e-013.323075e-34
PCCMSI1exon_skip_244746-5.700021e-013.129489e-19
PCCRBM6exon_skip_244746-4.618010e-012.490828e-12
PCCRBM47exon_skip_244746-4.169144e-014.133420e-10
PCCPCBP4exon_skip_244746-4.757034e-014.368642e-13
PCCPUM1exon_skip_2447465.116239e-013.320214e-15
PCCRALYLexon_skip_2447465.074153e-016.060105e-15
PCCHNRNPFexon_skip_244746-5.902157e-018.069502e-21
PGSRSF2exon_skip_2447465.471851e-013.122281e-16
PGMSI1exon_skip_244746-4.618668e-011.980071e-11
PGCNOT4exon_skip_2447465.287265e-014.466945e-15
PGTRNAU1APexon_skip_2447464.174526e-012.071981e-09
PGFXR2exon_skip_2447467.196521e-011.318334e-31
PGPCBP1exon_skip_2447465.608791e-013.892124e-17
PGRC3H1exon_skip_2447464.550132e-014.243046e-11
PGKHDRBS2exon_skip_2447465.925486e-012.144234e-19
PGRBM24exon_skip_2447467.164447e-013.236776e-31
PGENOX1exon_skip_2447464.937256e-014.546879e-13
PGHNRNPA0exon_skip_2447466.069721e-011.651443e-20
PGPUM1exon_skip_2447467.370951e-017.931425e-34
PGHNRNPDLexon_skip_2447465.825092e-011.185757e-18
PGHNRNPDexon_skip_2447465.882344e-014.503911e-19
PGRALYLexon_skip_2447468.014744e-017.637024e-44
PGEIF4G2exon_skip_2447465.168837e-012.265699e-14
PGRBM23exon_skip_2447465.185515e-011.809432e-14
PGSRSF4exon_skip_2447464.162741e-012.323256e-09
PGSRSF5exon_skip_2447465.502526e-011.974662e-16
PGZCRB1exon_skip_2447464.869422e-011.049572e-12
STGMSI1exon_skip_244746-4.352214e-012.522693e-05
STGHNRNPA0exon_skip_2447464.248178e-014.110844e-05
STGRALYLexon_skip_2447465.458907e-014.541451e-08
TCRBMS2exon_skip_8113-5.878565e-012.097044e-15
TCSRSF2exon_skip_81135.356154e-011.378234e-12
TCMSI1exon_skip_8113-5.949593e-017.916392e-16
TCFXR2exon_skip_81136.132318e-015.765508e-17
TCKHDRBS2exon_skip_81138.236669e-011.548186e-38
TCRBM24exon_skip_81137.454400e-014.934257e-28
TCENOX1exon_skip_81135.205104e-017.362449e-12
TCHNRNPA0exon_skip_81137.175338e-013.577312e-25
TCPUM1exon_skip_81136.685913e-016.578919e-21
TCHNRNPDLexon_skip_81134.596379e-012.906283e-09
TCHNRNPDexon_skip_81135.985698e-014.780180e-16
TCRALYLexon_skip_81138.669585e-016.489992e-47
TCSRSF5exon_skip_81134.434974e-011.176184e-08

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RelatedDrugs for ATP2B4

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 ATP2B4

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