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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 KCNIP1

check button Gene summary
Gene informationGene symbol

KCNIP1

Gene ID

30820

Gene namepotassium voltage-gated channel interacting protein 1
SynonymsKCHIP1|VABP
Cytomap

5q35.1

Type of geneprotein-coding
DescriptionKv channel-interacting protein 1A-type potassium channel modulatory protein 1Kv channel interacting protein 1potassium channel interacting protein 1vesicle APC-binding protein
Modification date20200313
UniProtAcc

A0A087WTU8,

A0A0A0MS16,

A0A1B0GTZ7,

E5RJY5,

Q9NZI2,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
KCNIP1

GO:1901379

regulation of potassium ion transmembrane transport

10676964|17187064


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Gene structures and expression levels for KCNIP1

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

ENSG00000182132
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.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

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 KCNIP1

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_112043chr5170720321:170720390:170721758:170721903:170722713:170722820170721758:170721903
exon_skip_32757chr5170720321:170720390:170721833:170721903:170722713:170722820170721833:170721903
exon_skip_61331chr5170504573:170504633:170712854:170712886:170718758:170718882170712854:170712886
exon_skip_65912chr5170504573:170504633:170669499:170669660:170718758:170718882170669499:170669660

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 KCNIP1

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
ENST00000411494170721833170721903Frame-shift
ENST00000411494170712854170712886In-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
ENST00000411494170721833170721903Frame-shift
ENST00000411494170712854170712886In-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
ENST00000411494170721833170721903Frame-shift
ENST00000411494170712854170712886In-frame

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Infer the effects of exon skipping event on protein functional features for KCNIP1

p-ENSG00000182132_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
ENST0000041149470122717071285417071288663942131

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
ENST0000041149470122717071285417071288663942131

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
ENST0000041149470122717071285417071288663942131

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
Q9NZI22131139Alternative sequenceID=VSP_015043;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9NZI22131131Alternative sequenceID=VSP_041511;Note=In isoform 4. MGAVMGTFSSLQTKQRRPSKDIAWWYYQYQR->MSGCSKRCKLGFVKFAQTIFKLITGTLSK;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:16112838;Dbxref=PMID:14702039,PMID:16112838
Q9NZI221312131Alternative sequenceID=VSP_015044;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10676964,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:16112838,ECO:0000303|Ref.2;Dbxref=PMID:10676964,PMID:1
Q9NZI221311227ChainID=PRO_0000073818;Note=Kv channel-interacting protein 1

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
Q9NZI22131139Alternative sequenceID=VSP_015043;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9NZI22131131Alternative sequenceID=VSP_041511;Note=In isoform 4. MGAVMGTFSSLQTKQRRPSKDIAWWYYQYQR->MSGCSKRCKLGFVKFAQTIFKLITGTLSK;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:16112838;Dbxref=PMID:14702039,PMID:16112838
Q9NZI221312131Alternative sequenceID=VSP_015044;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10676964,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:16112838,ECO:0000303|Ref.2;Dbxref=PMID:10676964,PMID:1
Q9NZI221311227ChainID=PRO_0000073818;Note=Kv channel-interacting protein 1

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
Q9NZI22131139Alternative sequenceID=VSP_015043;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9NZI22131131Alternative sequenceID=VSP_041511;Note=In isoform 4. MGAVMGTFSSLQTKQRRPSKDIAWWYYQYQR->MSGCSKRCKLGFVKFAQTIFKLITGTLSK;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:16112838;Dbxref=PMID:14702039,PMID:16112838
Q9NZI221312131Alternative sequenceID=VSP_015044;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10676964,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:16112838,ECO:0000303|Ref.2;Dbxref=PMID:10676964,PMID:1
Q9NZI221311227ChainID=PRO_0000073818;Note=Kv channel-interacting protein 1


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3'-UTR located exon skipping events that lost miRNA binding sites in KCNIP1

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 KCNIP1

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 KCNIP1

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 KCNIP1

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 KCNIP1

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

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RelatedDrugs for KCNIP1

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 KCNIP1

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