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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 KIF5B

check button Gene summary
Gene informationGene symbol

KIF5B

Gene ID

3799

Gene namekinesin family member 5B
SynonymsHEL-S-61|KINH|KNS|KNS1|UKHC
Cytomap

10p11.22

Type of geneprotein-coding
Descriptionkinesin-1 heavy chainconventional kinesin heavy chainepididymis secretory protein Li 61kinesin 1 (110-120kD)kinesin heavy chainubiquitous kinesin heavy chain
Modification date20200313
UniProtAcc

D3DRX6,

P33176,

Q2TA90,

Q66K46,

Q6P164,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
KIF5B

GO:0042391

regulation of membrane potential

19675065

KIF5B

GO:0043268

positive regulation of potassium ion transport

19675065

KIF5B

GO:0047496

vesicle transport along microtubule

28426968

KIF5B

GO:1903078

positive regulation of protein localization to plasma membrane

19675065


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Gene structures and expression levels for KIF5B

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

ENSG00000170759
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 KIF5B

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_106515chr1032017207:32017359:32018052:32018156:32018316:3201838732018052:32018156
exon_skip_12961chr1032037520:32037607:32038163:32038218:32038778:3203882632038163:32038218
exon_skip_134639chr1032022848:32023036:32028428:32028571:32031073:3203127932028428:32028571
exon_skip_188825chr1032009015:32011516:32015509:32015659:32017143:3201735932015509:32015659
exon_skip_193610chr1032018316:32018387:32018502:32018562:32019858:3201995932018502:32018562
exon_skip_258430chr1032038778:32038826:32039327:32039431:32040384:3204045732039327:32039431
exon_skip_65913chr1032018052:32018156:32018316:32018387:32018502:3201856232018316:32018387

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 KIF5B

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
ENST0000030241832015509320156595CDS-5UTR
ENST000003024183203816332038218Frame-shift
ENST000003024183201831632018387In-frame
ENST000003024183202842832028571In-frame
ENST000003024183203932732039431In-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
ENST0000030241832015509320156595CDS-5UTR
ENST000003024183202842832028571In-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
ENST000003024183201850232018562Frame-shift
ENST000003024183203816332038218Frame-shift
ENST000003024183201805232018156In-frame
ENST000003024183201831632018387In-frame
ENST000003024183202842832028571In-frame
ENST000003024183203932732039431In-frame

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Infer the effects of exon skipping event on protein functional features for KIF5B

p-ENSG00000170759_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
ENST000003024185894963320393273203943174785096130
ENST000003024185894963320284283202857120402182527574
ENST000003024185894963320183163201838728262896789812

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
ENST000003024185894963320284283202857120402182527574

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
ENST000003024185894963320393273203943174785096130
ENST000003024185894963320284283202857120402182527574
ENST000003024185894963320183163201838728262896789812
ENST000003024185894963320180523201815628983001813847

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
P3317696130124138Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BG2
P33176961302963ChainID=PRO_0000125351;Note=Kinesin-1 heavy chain
P33176961308325DomainNote=Kinesin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00283
P3317696130107122HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BG2
P3317696130102104TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BG2
P331765275742963ChainID=PRO_0000125351;Note=Kinesin-1 heavy chain
P33176527574329914Coiled coil.
P331767898122963ChainID=PRO_0000125351;Note=Kinesin-1 heavy chain
P33176789812329914Coiled coil.

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
P331765275742963ChainID=PRO_0000125351;Note=Kinesin-1 heavy chain
P33176527574329914Coiled coil.

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
P3317696130124138Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BG2
P33176961302963ChainID=PRO_0000125351;Note=Kinesin-1 heavy chain
P33176961308325DomainNote=Kinesin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00283
P3317696130107122HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BG2
P3317696130102104TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BG2
P331765275742963ChainID=PRO_0000125351;Note=Kinesin-1 heavy chain
P33176527574329914Coiled coil.
P331767898122963ChainID=PRO_0000125351;Note=Kinesin-1 heavy chain
P33176789812329914Coiled coil.
P331768138472963ChainID=PRO_0000125351;Note=Kinesin-1 heavy chain
P33176813847329914Coiled coil.


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3'-UTR located exon skipping events that lost miRNA binding sites in KIF5B

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 KIF5B

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 KIF5B

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 KIF5B

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 KIF5B

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

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RelatedDrugs for KIF5B

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 KIF5B

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