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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for KIFAP3 |
Gene summary |
Gene information | Gene symbol | KIFAP3 | Gene ID | 22920 |
Gene name | kinesin associated protein 3 | |
Synonyms | FLA3|KAP-1|KAP-3|KAP3|SMAP|Smg-GDS|dJ190I16.1 | |
Cytomap | 1q24.2 | |
Type of gene | protein-coding | |
Description | kinesin-associated protein 3small G protein GDP dissociation stimulatorsmg GDS-associated protein | |
Modification date | 20200313 | |
UniProtAcc | Q92845, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for KIFAP3 |
Skipped 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KIFAP3 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_126939 | chr1 | 170039233:170039288:170041677:170041840:170046712:170046866 | 170041677:170041840 |
exon_skip_173403 | chr1 | 170038290:170038431:170039233:170039288:170046712:170046866 | 170039233:170039288 |
exon_skip_215758 | chr1 | 170016462:170016624:170024418:170024596:170031886:170031984 | 170024418:170024596 |
exon_skip_41379 | chr1 | 170039233:170039288:170041677:170041840:170046712:170046853 | 170041677:170041840 |
exon_skip_8053 | chr1 | 170046712:170046866:170055305:170055436:170074436:170074588 | 170055305:170055436 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_209163 | MSBB_PG | 4.657759e-01 | 6.513725e-01 | -1.855967e-01 | 4.215603e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for KIFAP3 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000361580 | 170024418 | 170024596 | Frame-shift |
ENST00000361580 | 170039233 | 170039288 | Frame-shift |
ENST00000361580 | 170055305 | 170055436 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000361580 | 170024418 | 170024596 | Frame-shift |
ENST00000361580 | 170039233 | 170039288 | Frame-shift |
ENST00000361580 | 170055305 | 170055436 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000361580 | 170024418 | 170024596 | Frame-shift |
ENST00000361580 | 170039233 | 170039288 | Frame-shift |
ENST00000361580 | 170055305 | 170055436 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIFAP3 |
p-ENSG00000075945_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000361580 | 2974 | 792 | 170055305 | 170055436 | 261 | 391 | 11 | 54 |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000361580 | 2974 | 792 | 170055305 | 170055436 | 261 | 391 | 11 | 54 |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000361580 | 2974 | 792 | 170055305 | 170055436 | 261 | 391 | 11 | 54 |
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 feature | Description of feature |
Q92845 | 11 | 54 | 1 | 106 | Alternative sequence | ID=VSP_047132;Note=In isoform 4. MQGEDARYLKRKVKGGNIDVHPSEKALIVHYEVEATILGEMGDPMLGERKECQKIIRLKSLNANTDITSLARKVVEECKLIHPSKLNEVEQLLYYLQNRRDSLSGK->MSIALGNTYRRSLSDSETVSVLQASLCE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q92845 | 11 | 54 | 1 | 40 | Alternative sequence | ID=VSP_047133;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q92845 | 11 | 54 | 11 | 55 | Alternative sequence | ID=VSP_044505;Note=In isoform 2. RKVKGGNIDVHPSEKALIVHYEVEATILGEMGDPMLGERKECQKI->S;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q92845 | 11 | 54 | 1 | 792 | Chain | ID=PRO_0000084302;Note=Kinesin-associated protein 3 |
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 feature | Description of feature |
Q92845 | 11 | 54 | 1 | 106 | Alternative sequence | ID=VSP_047132;Note=In isoform 4. MQGEDARYLKRKVKGGNIDVHPSEKALIVHYEVEATILGEMGDPMLGERKECQKIIRLKSLNANTDITSLARKVVEECKLIHPSKLNEVEQLLYYLQNRRDSLSGK->MSIALGNTYRRSLSDSETVSVLQASLCE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q92845 | 11 | 54 | 1 | 40 | Alternative sequence | ID=VSP_047133;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q92845 | 11 | 54 | 11 | 55 | Alternative sequence | ID=VSP_044505;Note=In isoform 2. RKVKGGNIDVHPSEKALIVHYEVEATILGEMGDPMLGERKECQKI->S;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q92845 | 11 | 54 | 1 | 792 | Chain | ID=PRO_0000084302;Note=Kinesin-associated protein 3 |
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 feature | Description of feature |
Q92845 | 11 | 54 | 1 | 106 | Alternative sequence | ID=VSP_047132;Note=In isoform 4. MQGEDARYLKRKVKGGNIDVHPSEKALIVHYEVEATILGEMGDPMLGERKECQKIIRLKSLNANTDITSLARKVVEECKLIHPSKLNEVEQLLYYLQNRRDSLSGK->MSIALGNTYRRSLSDSETVSVLQASLCE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q92845 | 11 | 54 | 1 | 40 | Alternative sequence | ID=VSP_047133;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q92845 | 11 | 54 | 11 | 55 | Alternative sequence | ID=VSP_044505;Note=In isoform 2. RKVKGGNIDVHPSEKALIVHYEVEATILGEMGDPMLGERKECQKI->S;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q92845 | 11 | 54 | 1 | 792 | Chain | ID=PRO_0000084302;Note=Kinesin-associated protein 3 |
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3'-UTR located exon skipping events that lost miRNA binding sites in KIFAP3 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for KIFAP3 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for KIFAP3 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIFAP3 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for KIFAP3 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for KIFAP3 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for KIFAP3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |