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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 SLC4A5

check button Gene summary
Gene informationGene symbol

SLC4A5

Gene ID

57835

Gene namesolute carrier family 4 member 5
SynonymsNBC4|NBCe2
Cytomap

2p13.1

Type of geneprotein-coding
Descriptionelectrogenic sodium bicarbonate cotransporter 4solute carrier family 4 (sodium bicarbonate cotransporter), member 5
Modification date20200320
UniProtAcc

A0A1B0GUV9,

A0A1B0GVY3,

C9JNL6,

C9JU12,

C9JW32,

E7EQT3,

Q53QY5,

Q53S35,

Q9BY07,

Q9UDR3,

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 SLC4A5

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

ENSG00000188687
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
CBUPENST00000377632.5SLC4A5-203:protein_coding:SLC4A53.348494e+001.085164e+001.515019e-024.863958e-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 SLC4A5

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_203250chr274314945:74315025:74328120:74328186:74334027:7433417774328120:74328186
exon_skip_26904chr274233402:74233563:74235101:74235214:74239335:7423953574235101:74235214
exon_skip_33205chr274285773:74285902:74304489:74304680:74314945:7431502574304489:74304680
exon_skip_74061chr274231236:74231308:74232469:74232647:74233402:7423356374232469:74232647
exon_skip_75350chr274221434:74221501:74222868:74222952:74224840:7422499574222868:74222952
exon_skip_89384chr274285773:74285902:74314945:74315025:74328120:7432818674314945:74315025
exon_skip_98625chr274226957:74227130:74227517:74227564:74227810:7422787874227517:74227564

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 SLC4A5

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
ENST0000034683474328120743281863UTR-3UTR
ENST0000037763474328120743281863UTR-3UTR
ENST000003468347423246974232647Frame-shift
ENST000003776347423246974232647Frame-shift
ENST000003468347423510174235214In-frame
ENST000003776347423510174235214In-frame
ENST000003468347430448974304680In-frame
ENST000003776347430448974304680In-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
ENST0000034683474328120743281863UTR-3UTR
ENST0000037763474328120743281863UTR-3UTR
ENST000003468347422286874222952Frame-shift
ENST000003776347422286874222952Frame-shift
ENST000003468347423246974232647Frame-shift
ENST000003776347423246974232647Frame-shift

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
ENST0000034683474328120743281863UTR-3UTR
ENST0000037763474328120743281863UTR-3UTR
ENST000003468347422286874222952Frame-shift
ENST000003776347422286874222952Frame-shift
ENST000003468347423246974232647Frame-shift
ENST000003776347423246974232647Frame-shift
ENST000003468347422751774227564In-frame
ENST000003776347422751774227564In-frame
ENST000003468347423510174235214In-frame
ENST000003776347423510174235214In-frame
ENST000003468347430448974304680In-frame
ENST000003776347430448974304680In-frame

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Infer the effects of exon skipping event on protein functional features for SLC4A5

p-ENSG00000188687_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
ENST000003468346250113774304489743046803165062690
ENST000003776343831113774304489743046804806702690
ENST0000034683462501137742351017423521425562668773810
ENST0000037763438311137742351017423521427202832773810

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
ENST000003468346250113774304489743046803165062690
ENST000003776343831113774304489743046804806702690
ENST0000034683462501137742351017423521425562668773810
ENST0000037763438311137742351017423521427202832773810
ENST0000034683462501137742275177422756431533199972987
ENST0000037763438311137742275177422756433173363972987

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
Q9BY0726902791Alternative sequenceID=VSP_052770;Note=In isoform 7. ECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWGLRPDQPQQELTGPGSGASSQDSSMDLISRTR->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9BY0726902791Alternative sequenceID=VSP_052770;Note=In isoform 7. ECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWGLRPDQPQQELTGPGSGASSQDSSMDLISRTR->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9BY0726908891Alternative sequenceID=VSP_052771;Note=In isoform 5. SRTR->EHKG;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9
Q9BY0726908891Alternative sequenceID=VSP_052771;Note=In isoform 5. SRTR->EHKG;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9
Q9BY07269011137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY07269011137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY0726901521Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY0726901521Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810774811Alternative sequenceID=VSP_052772;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12388414,ECO:0000303|PubMed:15489334;Dbxref=PMID:12388414,PMID:15489334
Q9BY07773810774811Alternative sequenceID=VSP_052772;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12388414,ECO:0000303|PubMed:15489334;Dbxref=PMID:12388414,PMID:15489334
Q9BY0777381011137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY0777381011137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY07773810763773Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810763773Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810796828Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810796828Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810774795TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810774795TransmembraneNote=Helical;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

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
Q9BY0726902791Alternative sequenceID=VSP_052770;Note=In isoform 7. ECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWGLRPDQPQQELTGPGSGASSQDSSMDLISRTR->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9BY0726902791Alternative sequenceID=VSP_052770;Note=In isoform 7. ECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWGLRPDQPQQELTGPGSGASSQDSSMDLISRTR->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9BY0726908891Alternative sequenceID=VSP_052771;Note=In isoform 5. SRTR->EHKG;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9
Q9BY0726908891Alternative sequenceID=VSP_052771;Note=In isoform 5. SRTR->EHKG;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9
Q9BY07269011137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY07269011137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY0726901521Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY0726901521Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810774811Alternative sequenceID=VSP_052772;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12388414,ECO:0000303|PubMed:15489334;Dbxref=PMID:12388414,PMID:15489334
Q9BY07773810774811Alternative sequenceID=VSP_052772;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12388414,ECO:0000303|PubMed:15489334;Dbxref=PMID:12388414,PMID:15489334
Q9BY0777381011137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY0777381011137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY07773810763773Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810763773Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810796828Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810796828Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810774795TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07773810774795TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY07972987866993Alternative sequenceID=VSP_052773;Note=In isoform 5. KAAGYHLDLFWVGILMALCSFMGLPWYVAATVISIAHIDSLKMETETSAPGEQPQFLGVREQRVTGIIVFILTGISVFLAPILKCIPLPVLYGVFLYMGVASLNGIQMGTGGSEFKIQKKLTPFWERC->GTESNRHHRLHPDGNLCLPGSHPKVYPPAGAVRSLPLHGRGLPEWHPVLGTLQALPDASQAPAGPCLPAARAAAPDPPLHPGADPLPGGALD
Q9BY07972987866993Alternative sequenceID=VSP_052773;Note=In isoform 5. KAAGYHLDLFWVGILMALCSFMGLPWYVAATVISIAHIDSLKMETETSAPGEQPQFLGVREQRVTGIIVFILTGISVFLAPILKCIPLPVLYGVFLYMGVASLNGIQMGTGGSEFKIQKKLTPFWERC->GTESNRHHRLHPDGNLCLPGSHPKVYPPAGAVRSLPLHGRGLPEWHPVLGTLQALPDASQAPAGPCLPAARAAAPDPPLHPGADPLPGGALD
Q9BY079729879501046Alternative sequenceID=VSP_052775;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12063394;Dbxref=PMID:12063394
Q9BY079729879501046Alternative sequenceID=VSP_052775;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12063394;Dbxref=PMID:12063394
Q9BY07972987973988Alternative sequenceID=VSP_052776;Note=In isoform 3%2C isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11788353,ECO:0000303|PubMed:11997242,ECO:0000303|PubMed:12388414,ECO:0000303|PubMed:15489334;Dbxr
Q9BY07972987973988Alternative sequenceID=VSP_052776;Note=In isoform 3%2C isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11788353,ECO:0000303|PubMed:11997242,ECO:0000303|PubMed:12388414,ECO:0000303|PubMed:15489334;Dbxr
Q9BY0797298711137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY0797298711137ChainID=PRO_0000328920;Note=Electrogenic sodium bicarbonate cotransporter 4
Q9BY079729879721016Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BY079729879721016Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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3'-UTR located exon skipping events that lost miRNA binding sites in SLC4A5

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
MayoENST000003776347432812074328186hsa-miR-3922-3pchr2:74328163-743281708mer-1achr2:74328156-74328177155.00-19.89
MayoENST000003776347432812074328186hsa-miR-3176chr2:74328163-743281708mer-1achr2:74328156-74328177155.00-19.89
MayoENST000003776347432812074328186hsa-miR-3180-5pchr2:74328135-743281428mer-1achr2:74328126-74328146145.00-19.37
MayoENST000003776347432812074328186hsa-miR-152-5pchr2:74328167-743281748mer-1achr2:74328156-74328177155.00-19.89
MayoENST000003776347432812074328186hsa-miR-6791-5pchr2:74328156-743281638mer-1achr2:74328147-74328167159.00-19.37
MayoENST000003776347432812074328186hsa-miR-4292chr2:74328156-743281638mer-1achr2:74328147-74328167159.00-19.37
MSBBENST000003776347432812074328186hsa-miR-3922-3pchr2:74328163-743281708mer-1achr2:74328156-74328177155.00-19.89
MSBBENST000003776347432812074328186hsa-miR-3176chr2:74328163-743281708mer-1achr2:74328156-74328177155.00-19.89
MSBBENST000003776347432812074328186hsa-miR-3180-5pchr2:74328135-743281428mer-1achr2:74328126-74328146145.00-19.37
MSBBENST000003776347432812074328186hsa-miR-152-5pchr2:74328167-743281748mer-1achr2:74328156-74328177155.00-19.89
MSBBENST000003776347432812074328186hsa-miR-6791-5pchr2:74328156-743281638mer-1achr2:74328147-74328167159.00-19.37
MSBBENST000003776347432812074328186hsa-miR-4292chr2:74328156-743281638mer-1achr2:74328147-74328167159.00-19.37
ROSMAPENST000003776347432812074328186hsa-miR-3922-3pchr2:74328163-743281708mer-1achr2:74328156-74328177155.00-19.89
ROSMAPENST000003776347432812074328186hsa-miR-3176chr2:74328163-743281708mer-1achr2:74328156-74328177155.00-19.89
ROSMAPENST000003776347432812074328186hsa-miR-3180-5pchr2:74328135-743281428mer-1achr2:74328126-74328146145.00-19.37
ROSMAPENST000003776347432812074328186hsa-miR-152-5pchr2:74328167-743281748mer-1achr2:74328156-74328177155.00-19.89
ROSMAPENST000003776347432812074328186hsa-miR-6791-5pchr2:74328156-743281638mer-1achr2:74328147-74328167159.00-19.37
ROSMAPENST000003776347432812074328186hsa-miR-4292chr2:74328156-743281638mer-1achr2:74328147-74328167159.00-19.37

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SNVs in the skipped exons for SLC4A5

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 SLC4A5

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 SLC4A5

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 SLC4A5

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for SLC4A5

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 SLC4A5

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