|
||||||
|
 | |
| |
| |
| 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 KCNQ5 |
 Gene summary |
| Gene information | Gene symbol | KCNQ5 | Gene ID | 56479 |
| Gene name | potassium voltage-gated channel subfamily Q member 5 | |
| Synonyms | Kv7.5|MRD46 | |
| Cytomap | 6q13 | |
| Type of gene | protein-coding | |
| Description | potassium voltage-gated channel subfamily KQT member 5KQT-like 5potassium channel proteinpotassium channel subunit alpha KvLQT5potassium channel, voltage gated KQT-like subfamily Q, member 5voltage-gated potassium channel subunit Kv7.5 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 16044666(A Potassium Channel, the M-channel, as a Therapeutic Target) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| KCNQ5 | GO:0071805 | potassium ion transmembrane transport | 10787416|11159685 |
Top |
Gene structures and expression levels for KCNQ5 |
| 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. |
 |
ENSG00000185760
| 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. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KCNQ5 |
| 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_113891 | chr6 | 73077762:73077887:73105257:73105367:73111308:73111403 | 73105257:73105367 |
| exon_skip_131702 | chr6 | 73105257:73105367:73111308:73111403:73120483:73120577 | 73111308:73111403 |
| exon_skip_178834 | chr6 | 73133421:73133641:73169746:73169854:73190573:73190704 | 73169746:73169854 |
| exon_skip_180198 | chr6 | 73120557:73120577:73124486:73124512:73133421:73133641 | 73124486:73124512 |
| exon_skip_184828 | chr6 | 73190573:73190704:73192565:73192691:73194452:73195454 | 73192565:73192691 |
| exon_skip_185802 | chr6 | 73124486:73124512:73133421:73133641:73169746:73169854 | 73133421:73133641 |
| exon_skip_288586 | chr6 | 73077837:73077887:73105257:73105367:73111308:73111403 | 73105257:73105367 |
| exon_skip_70732 | chr6 | 73124486:73124512:73129793:73129849:73133421:73133641 | 73129793:73129849 |
| exon_skip_87678 | chr6 | 73120557:73120577:73133421:73133641:73169746:73169854 | 73133421:73133641 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for KCNQ5 |
| 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 |
| ENST00000370398 | 73133421 | 73133641 | Frame-shift |
| ENST00000370398 | 73169746 | 73169854 | Frame-shift |
| ENST00000370398 | 73192565 | 73192691 | Frame-shift |
| ENST00000370398 | 73105257 | 73105367 | In-frame |
| ENST00000370398 | 73111308 | 73111403 | In-frame |
| ENST00000370398 | 73124486 | 73124512 | 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 |
| ENST00000370398 | 73133421 | 73133641 | Frame-shift |
| ENST00000370398 | 73105257 | 73105367 | In-frame |
| ENST00000370398 | 73124486 | 73124512 | 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 |
| ENST00000370398 | 73105257 | 73105367 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for KCNQ5 |
p-ENSG00000185760_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 |
| ENST00000370398 | 6362 | 932 | 73105257 | 73105367 | 1029 | 1138 | 306 | 343 |
| ENST00000370398 | 6362 | 932 | 73111308 | 73111403 | 1140 | 1234 | 343 | 375 |
| 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 |
| ENST00000370398 | 6362 | 932 | 73105257 | 73105367 | 1029 | 1138 | 306 | 343 |
| 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 |
| ENST00000370398 | 6362 | 932 | 73105257 | 73105367 | 1029 | 1138 | 306 | 343 |
| 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 |
| Q9NR82 | 306 | 343 | 1 | 932 | Chain | ID=PRO_0000054040;Note=Potassium voltage-gated channel subfamily KQT member 5 |
| Q9NR82 | 306 | 343 | 299 | 319 | Intramembrane | Note=Pore-forming%3B Name%3DSegment H5;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NR82 | 306 | 343 | 311 | 316 | Motif | Note=Selectivity filter;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NR82 | 306 | 343 | 341 | 341 | Natural variant | ID=VAR_079220;Note=In MRD46%3B decreased protein abundance%3B decreased potassium ion transmembrane transport%3B changed voltage-gated potassium channel activity%3B changed gating properties. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2866 |
| Q9NR82 | 306 | 343 | 320 | 325 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NR82 | 306 | 343 | 326 | 346 | Transmembrane | Note=Helical%3B Name%3DSegment S6;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NR82 | 343 | 375 | 1 | 932 | Chain | ID=PRO_0000054040;Note=Potassium voltage-gated channel subfamily KQT member 5 |
| Q9NR82 | 343 | 375 | 367 | 382 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6B8Q |
| Q9NR82 | 343 | 375 | 369 | 369 | Natural variant | ID=VAR_079221;Note=In MRD46%3B no effect on protein abundance%3B no effect on potassium ion transmembrane transport%3B increased voltage-gated potassium channel activity%3B changed gating properties resulting in a gain of function. P->R;Ontology_term=ECO: |
| Q9NR82 | 343 | 375 | 347 | 932 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NR82 | 343 | 375 | 326 | 346 | Transmembrane | Note=Helical%3B Name%3DSegment S6;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 |
| Q9NR82 | 306 | 343 | 1 | 932 | Chain | ID=PRO_0000054040;Note=Potassium voltage-gated channel subfamily KQT member 5 |
| Q9NR82 | 306 | 343 | 299 | 319 | Intramembrane | Note=Pore-forming%3B Name%3DSegment H5;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NR82 | 306 | 343 | 311 | 316 | Motif | Note=Selectivity filter;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NR82 | 306 | 343 | 341 | 341 | Natural variant | ID=VAR_079220;Note=In MRD46%3B decreased protein abundance%3B decreased potassium ion transmembrane transport%3B changed voltage-gated potassium channel activity%3B changed gating properties. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2866 |
| Q9NR82 | 306 | 343 | 320 | 325 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NR82 | 306 | 343 | 326 | 346 | Transmembrane | Note=Helical%3B Name%3DSegment S6;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 |
| Q9NR82 | 306 | 343 | 1 | 932 | Chain | ID=PRO_0000054040;Note=Potassium voltage-gated channel subfamily KQT member 5 |
| Q9NR82 | 306 | 343 | 299 | 319 | Intramembrane | Note=Pore-forming%3B Name%3DSegment H5;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NR82 | 306 | 343 | 311 | 316 | Motif | Note=Selectivity filter;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NR82 | 306 | 343 | 341 | 341 | Natural variant | ID=VAR_079220;Note=In MRD46%3B decreased protein abundance%3B decreased potassium ion transmembrane transport%3B changed voltage-gated potassium channel activity%3B changed gating properties. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2866 |
| Q9NR82 | 306 | 343 | 320 | 325 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NR82 | 306 | 343 | 326 | 346 | Transmembrane | Note=Helical%3B Name%3DSegment S6;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in KCNQ5 |
| 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 |
Top |
SNVs in the skipped exons for KCNQ5 |
| - 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 |
Top |
AD stage-associated exon skippint events for KCNQ5 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_70732 | -3.795049e-01 | 4.639078e-02 | chr6 | + | 73124486 | 73124512 | 73129793 | 73129849 | 73133421 | 73133641 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNQ5 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for KCNQ5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for KCNQ5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9NR82 | approved|investigational | DB04953 | Ezogabine | small molecule | Q9NR82 |
Top |
RelatedDiseases for KCNQ5 |
| 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)
|