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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 KCND3 |
 Gene summary |
| Gene information | Gene symbol | KCND3 | Gene ID | 3752 |
| Gene name | potassium voltage-gated channel subfamily D member 3 | |
| Synonyms | BRGDA9|KCND3L|KCND3S|KSHIVB|KV4.3|SCA19|SCA22 | |
| Cytomap | 1p13.2 | |
| Type of gene | protein-coding | |
| Description | potassium voltage-gated channel subfamily D member 3potassium channel, voltage gated Shal related subfamily D, member 3potassium ionic channel Kv4.3potassium voltage-gated channel longpotassium voltage-gated channel, Shal-related subfamily, member 3s | |
| Modification date | 20200318 | |
| 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 |
| KCND3 | GO:0086009 | membrane repolarization | 21493962 |
| KCND3 | GO:0097623 | potassium ion export across plasma membrane | 21349352|21493962 |
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Gene structures and expression levels for KCND3 |
| 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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ENSG00000171385
| 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 KCND3 |
| 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_103070 | chr1 | 111777026:111777273:111778436:111778492:111780225:111780314 | 111778436:111778492 |
| 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 KCND3 |
| 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 |
| ENST00000315987 | 111778436 | 111778492 | 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 |
| ENST00000315987 | 111778436 | 111778492 | 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 |
| ENST00000315987 | 111778436 | 111778492 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCND3 |
p-ENSG00000171385_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 |
| ENST00000315987 | 2733 | 655 | 111778436 | 111778492 | 1942 | 1997 | 487 | 505 |
| 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 |
| ENST00000315987 | 2733 | 655 | 111778436 | 111778492 | 1942 | 1997 | 487 | 505 |
| 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 |
| ENST00000315987 | 2733 | 655 | 111778436 | 111778492 | 1942 | 1997 | 487 | 505 |
| 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 |
| Q9UK17 | 487 | 505 | 488 | 506 | Alternative sequence | ID=VSP_008826;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10200233,ECO:0000303|PubMed:10729221,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9843794;Dbxref=PMID:10200233,PMID:107292 |
| Q9UK17 | 487 | 505 | 1 | 655 | Chain | ID=PRO_0000054068;Note=Potassium voltage-gated channel subfamily D member 3 |
| Q9UK17 | 487 | 505 | 472 | 487 | Region | Note=Mediates dendritic targeting;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9UK17 | 487 | 505 | 403 | 655 | 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 |
| Q9UK17 | 487 | 505 | 488 | 506 | Alternative sequence | ID=VSP_008826;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10200233,ECO:0000303|PubMed:10729221,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9843794;Dbxref=PMID:10200233,PMID:107292 |
| Q9UK17 | 487 | 505 | 1 | 655 | Chain | ID=PRO_0000054068;Note=Potassium voltage-gated channel subfamily D member 3 |
| Q9UK17 | 487 | 505 | 472 | 487 | Region | Note=Mediates dendritic targeting;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9UK17 | 487 | 505 | 403 | 655 | 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 |
| Q9UK17 | 487 | 505 | 488 | 506 | Alternative sequence | ID=VSP_008826;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10200233,ECO:0000303|PubMed:10729221,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9843794;Dbxref=PMID:10200233,PMID:107292 |
| Q9UK17 | 487 | 505 | 1 | 655 | Chain | ID=PRO_0000054068;Note=Potassium voltage-gated channel subfamily D member 3 |
| Q9UK17 | 487 | 505 | 472 | 487 | Region | Note=Mediates dendritic targeting;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9UK17 | 487 | 505 | 403 | 655 | 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 KCND3 |
| 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 KCND3 |
| - 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 KCND3 |
| 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 KCND3 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_103070 | rs846261 | chr1:111710775 | 2.900376e-04 | 3.991554e-02 |
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Correlation with RNA binding proteins (RBPs) for KCND3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | MATR3 | exon_skip_103070 | -4.605276e-01 | 2.063531e-10 |
| FL | RBM23 | exon_skip_103070 | -4.380453e-01 | 1.861148e-09 |
| IFG | MATR3 | exon_skip_103070 | -5.298632e-01 | 3.732168e-03 |
| IFG | G3BP2 | exon_skip_103070 | -4.706207e-01 | 1.148844e-02 |
| IFG | NOVA1 | exon_skip_103070 | -4.443837e-01 | 1.782819e-02 |
| TC | MATR3 | exon_skip_103070 | -4.780113e-01 | 3.977861e-09 |
| TC | G3BP2 | exon_skip_103070 | -4.961602e-01 | 8.124503e-10 |
| TC | CELF1 | exon_skip_103070 | -4.159775e-01 | 4.741777e-07 |
| TC | NOVA1 | exon_skip_103070 | -5.586062e-01 | 1.586303e-12 |
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RelatedDrugs for KCND3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9UK17 | approved | DB00280 | Disopyramide | small molecule | Q9UK17 |
| Q9UK17 | approved | DB00458 | Imipramine | small molecule | Q9UK17 |
| Q9UK17 | approved|investigational | DB06217 | Vernakalant | small molecule | Q9UK17 |
| Q9UK17 | approved | DB06637 | Dalfampridine | small molecule | Q9UK17 |
| Q9UK17 | approved|investigational | DB11633 | Isavuconazole | small molecule | Q9UK17 |
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RelatedDiseases for KCND3 |
| 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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