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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 KCNIP1 |
Gene summary |
Gene information | Gene symbol | KCNIP1 | Gene ID | 30820 |
Gene name | potassium voltage-gated channel interacting protein 1 | |
Synonyms | KCHIP1|VABP | |
Cytomap | 5q35.1 | |
Type of gene | protein-coding | |
Description | Kv channel-interacting protein 1A-type potassium channel modulatory protein 1Kv channel interacting protein 1potassium channel interacting protein 1vesicle APC-binding protein | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
KCNIP1 | GO:1901379 | regulation of potassium ion transmembrane transport | 10676964|17187064 |
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Gene structures and expression levels for KCNIP1 |
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 KCNIP1 |
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_112043 | chr5 | 170720321:170720390:170721758:170721903:170722713:170722820 | 170721758:170721903 |
exon_skip_32757 | chr5 | 170720321:170720390:170721833:170721903:170722713:170722820 | 170721833:170721903 |
exon_skip_61331 | chr5 | 170504573:170504633:170712854:170712886:170718758:170718882 | 170712854:170712886 |
exon_skip_65912 | chr5 | 170504573:170504633:170669499:170669660:170718758:170718882 | 170669499:170669660 |
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 |
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Open reading frame (ORF) annotation in the exon skipping event for KCNIP1 |
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 |
ENST00000411494 | 170721833 | 170721903 | Frame-shift |
ENST00000411494 | 170712854 | 170712886 | 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 |
ENST00000411494 | 170721833 | 170721903 | Frame-shift |
ENST00000411494 | 170712854 | 170712886 | 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 |
ENST00000411494 | 170721833 | 170721903 | Frame-shift |
ENST00000411494 | 170712854 | 170712886 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCNIP1 |
p-ENSG00000182132_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 |
ENST00000411494 | 701 | 227 | 170712854 | 170712886 | 63 | 94 | 21 | 31 |
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 |
ENST00000411494 | 701 | 227 | 170712854 | 170712886 | 63 | 94 | 21 | 31 |
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 |
ENST00000411494 | 701 | 227 | 170712854 | 170712886 | 63 | 94 | 21 | 31 |
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 |
Q9NZI2 | 21 | 31 | 1 | 39 | Alternative sequence | ID=VSP_015043;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9NZI2 | 21 | 31 | 1 | 31 | Alternative sequence | ID=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 |
Q9NZI2 | 21 | 31 | 21 | 31 | Alternative sequence | ID=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 |
Q9NZI2 | 21 | 31 | 1 | 227 | Chain | ID=PRO_0000073818;Note=Kv channel-interacting protein 1 |
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 |
Q9NZI2 | 21 | 31 | 1 | 39 | Alternative sequence | ID=VSP_015043;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9NZI2 | 21 | 31 | 1 | 31 | Alternative sequence | ID=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 |
Q9NZI2 | 21 | 31 | 21 | 31 | Alternative sequence | ID=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 |
Q9NZI2 | 21 | 31 | 1 | 227 | Chain | ID=PRO_0000073818;Note=Kv channel-interacting protein 1 |
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 |
Q9NZI2 | 21 | 31 | 1 | 39 | Alternative sequence | ID=VSP_015043;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9NZI2 | 21 | 31 | 1 | 31 | Alternative sequence | ID=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 |
Q9NZI2 | 21 | 31 | 21 | 31 | Alternative sequence | ID=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 |
Q9NZI2 | 21 | 31 | 1 | 227 | Chain | ID=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 |
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 KCNIP1 |
- 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 KCNIP1 |
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 KCNIP1 |
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 KCNIP1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for KCNIP1 |
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 KCNIP1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |