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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for KCNC2 |
 Gene summary |
| Gene information | Gene symbol | KCNC2 | Gene ID | 3747 |
| Gene name | potassium voltage-gated channel subfamily C member 2 | |
| Synonyms | KV3.2 | |
| Cytomap | 12q21.1 | |
| Type of gene | protein-coding | |
| Description | potassium voltage-gated channel subfamily C member 2potassium channel, voltage gated Shaw related subfamily C, member 2potassium voltage-gated channel, Shaw-related subfamily, member 2shaw-like potassium channelvoltage-gated potassium channel Kv3.2 | |
| 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 |
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Gene structures and expression levels for KCNC2 |
| 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. |
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ENSG00000166006
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | DOWN | ENST00000549446.5 | KCNC2-208:protein_coding:KCNC2 | 5.506157e+02 | -8.078346e-01 | 9.595445e-06 | 4.888559e-04 |
| 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 KCNC2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_100185 | chr12 | 75042280:75042374:75048153:75048317:75049885:75049988 | 75048153:75048317 |
| exon_skip_104767 | chr12 | 75048192:75048317:75049885:75049988:75050390:75050927 | 75049885:75049988 |
| exon_skip_132694 | chr12 | 75042961:75043241:75048153:75048317:75050390:75050927 | 75048153:75048317 |
| exon_skip_13485 | chr12 | 75042280:75042374:75048153:75048317:75050390:75050498 | 75048153:75048317 |
| exon_skip_162423 | chr12 | 75040117:75041206:75042280:75042374:75050390:75050927 | 75042280:75042374 |
| exon_skip_177839 | chr12 | 75043680:75043813:75048153:75048317:75050390:75050927 | 75048153:75048317 |
| exon_skip_229714 | chr12 | 75048192:75048317:75049885:75049988:75050390:75050830 | 75049885:75049988 |
| exon_skip_231805 | chr12 | 75048153:75048317:75049885:75049988:75050390:75050927 | 75049885:75049988 |
| exon_skip_237108 | chr12 | 75043357:75043813:75048153:75048317:75050390:75050927 | 75048153:75048317 |
| exon_skip_240980 | chr12 | 75042280:75042374:75048153:75048317:75050390:75050830 | 75048153:75048317 |
| exon_skip_271343 | chr12 | 75040117:75041206:75042280:75042374:75048153:75048266 | 75042280:75042374 |
| exon_skip_284462 | chr12 | 75040109:75041448:75042280:75042374:75048153:75048266 | 75042280:75042374 |
| exon_skip_291719 | chr12 | 75042280:75042374:75048153:75048317:75049885:75049935 | 75048153:75048317 |
| exon_skip_5231 | chr12 | 75042280:75042374:75048153:75048317:75050390:75050927 | 75048153:75048317 |
| exon_skip_73262 | chr12 | 75048153:75048317:75049885:75049988:75050390:75050498 | 75049885:75049988 |
| exon_skip_77378 | chr12 | 75042961:75043241:75048153:75048317:75050390:75050498 | 75048153:75048317 |
| exon_skip_80182 | chr12 | 75042280:75042374:75048153:75048317:75050390:75051317 | 75048153:75048317 |
| exon_skip_98513 | chr12 | 75040117:75041206:75048153:75048317:75050390:75050927 | 75048153:75048317 |
| 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 KCNC2 |
| 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 |
| ENST00000549446 | 75048153 | 75048317 | 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 |
| ENST00000549446 | 75048153 | 75048317 | 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 |
| ENST00000549446 | 75048153 | 75048317 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCNC2 |
p-ENSG00000166006_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 |
| ENST00000549446 | 5642 | 638 | 75048153 | 75048317 | 2297 | 2460 | 538 | 593 |
| 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 |
| ENST00000549446 | 5642 | 638 | 75048153 | 75048317 | 2297 | 2460 | 538 | 593 |
| 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 |
| ENST00000549446 | 5642 | 638 | 75048153 | 75048317 | 2297 | 2460 | 538 | 593 |
| 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 |
| Q96PR1 | 538 | 593 | 539 | 593 | Alternative sequence | ID=VSP_044742;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96PR1 | 538 | 593 | 539 | 558 | Alternative sequence | ID=VSP_029269;Note=In isoform 4. VLSGDDSTGSEPPLSPPERL->DNCKEVVITGYTQAEARSLT;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96PR1 | 538 | 593 | 559 | 638 | Alternative sequence | ID=VSP_029270;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96PR1 | 538 | 593 | 1 | 638 | Chain | ID=PRO_0000310416;Note=Potassium voltage-gated channel subfamily C member 2 |
| Q96PR1 | 538 | 593 | 474 | 638 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q96PR1 | 538 | 593 | 539 | 593 | Alternative sequence | ID=VSP_044742;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96PR1 | 538 | 593 | 539 | 558 | Alternative sequence | ID=VSP_029269;Note=In isoform 4. VLSGDDSTGSEPPLSPPERL->DNCKEVVITGYTQAEARSLT;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96PR1 | 538 | 593 | 559 | 638 | Alternative sequence | ID=VSP_029270;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96PR1 | 538 | 593 | 1 | 638 | Chain | ID=PRO_0000310416;Note=Potassium voltage-gated channel subfamily C member 2 |
| Q96PR1 | 538 | 593 | 474 | 638 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q96PR1 | 538 | 593 | 539 | 593 | Alternative sequence | ID=VSP_044742;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96PR1 | 538 | 593 | 539 | 558 | Alternative sequence | ID=VSP_029269;Note=In isoform 4. VLSGDDSTGSEPPLSPPERL->DNCKEVVITGYTQAEARSLT;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96PR1 | 538 | 593 | 559 | 638 | Alternative sequence | ID=VSP_029270;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96PR1 | 538 | 593 | 1 | 638 | Chain | ID=PRO_0000310416;Note=Potassium voltage-gated channel subfamily C member 2 |
| Q96PR1 | 538 | 593 | 474 | 638 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in KCNC2 |
| 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 KCNC2 |
| - 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 KCNC2 |
| 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 KCNC2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_229714 | rs1471189 | chr12:75126427 | 2.235640e-06 | 6.916097e-04 |
| PCC | exon_skip_229714 | rs2446337 | chr12:75113888 | 4.216131e-05 | 8.640791e-03 |
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Correlation with RNA binding proteins (RBPs) for KCNC2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | PCBP2 | exon_skip_76057 | 5.006613e-01 | 1.270824e-02 |
| IFG | SART3 | exon_skip_76057 | 4.309771e-01 | 3.550535e-02 |
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RelatedDrugs for KCNC2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q96PR1 | approved | DB06637 | Dalfampridine | small molecule | Q96PR1 |
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RelatedDiseases for KCNC2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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