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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | Q9NR82 | |
| Context | PubMed: KCNQ5 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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 |
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Exon skipping events across known transcript of Ensembl for KCNQ5 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for KCNQ5 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for KCNQ5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453066 | 6 | 73331917:73332315:73713630:73713721:73751658:73751785 | 73713630:73713721 | ENSG00000185760.11 | ENST00000414165.2,ENST00000403813.2,ENST00000370398.1,ENST00000355635.3,ENST00000370392.1,ENST00000402622.2 |
| exon_skip_453067 | 6 | 73787484:73787610:73814979:73815090:73821030:73821126 | 73814979:73815090 | ENSG00000185760.11 | ENST00000414165.2,ENST00000403813.2,ENST00000370398.1,ENST00000355194.4,ENST00000355635.3,ENST00000342056.2,ENST00000370392.1,ENST00000402622.2 |
| exon_skip_453068 | 6 | 73830205:73830300:73834208:73834235:73839515:73839572 | 73834208:73834235 | ENSG00000185760.11 | ENST00000342056.2 |
| exon_skip_453069 | 6 | 73830279:73830300:73834208:73834235:73843143:73843364 | 73834208:73834235 | ENSG00000185760.11 | ENST00000370398.1,ENST00000355194.4 |
| exon_skip_453070 | 6 | 73830205:73830300:73839515:73839572:73843143:73843364 | 73839515:73839572 | ENSG00000185760.11 | ENST00000402622.2 |
| exon_skip_453071 | 6 | 73830279:73830300:73843143:73843364:73879468:73879577 | 73843143:73843364 | ENSG00000185760.11 | ENST00000403813.2 |
| exon_skip_453072 | 6 | 73834208:73834235:73839515:73839572:73843143:73843364 | 73839515:73839572 | ENSG00000185760.11 | ENST00000342056.2 |
| exon_skip_453074 | 6 | 73900295:73900427:73902287:73902414:73904174:73905137 | 73902287:73902414 | ENSG00000185760.11 | ENST00000414165.2,ENST00000403813.2,ENST00000370398.1,ENST00000355194.4,ENST00000355635.3,ENST00000342056.2,ENST00000402622.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KCNQ5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453066 | 6 | 73331917:73332315:73713630:73713721:73751658:73751785 | 73713630:73713721 | ENSG00000185760.11 | ENST00000370398.1,ENST00000370392.1,ENST00000402622.2,ENST00000355635.3,ENST00000403813.2,ENST00000414165.2 |
| exon_skip_453067 | 6 | 73787484:73787610:73814979:73815090:73821030:73821126 | 73814979:73815090 | ENSG00000185760.11 | ENST00000342056.2,ENST00000355194.4,ENST00000370398.1,ENST00000370392.1,ENST00000402622.2,ENST00000355635.3,ENST00000403813.2,ENST00000414165.2 |
| exon_skip_453068 | 6 | 73830205:73830300:73834208:73834235:73839515:73839572 | 73834208:73834235 | ENSG00000185760.11 | ENST00000342056.2 |
| exon_skip_453069 | 6 | 73830279:73830300:73834208:73834235:73843143:73843364 | 73834208:73834235 | ENSG00000185760.11 | ENST00000355194.4,ENST00000370398.1 |
| exon_skip_453070 | 6 | 73830205:73830300:73839515:73839572:73843143:73843364 | 73839515:73839572 | ENSG00000185760.11 | ENST00000402622.2 |
| exon_skip_453071 | 6 | 73830279:73830300:73843143:73843364:73879468:73879577 | 73843143:73843364 | ENSG00000185760.11 | ENST00000403813.2 |
| exon_skip_453072 | 6 | 73834208:73834235:73839515:73839572:73843143:73843364 | 73839515:73839572 | ENSG00000185760.11 | ENST00000342056.2 |
| exon_skip_453074 | 6 | 73900295:73900427:73902287:73902414:73904174:73905137 | 73902287:73902414 | ENSG00000185760.11 | ENST00000342056.2,ENST00000355194.4,ENST00000370398.1,ENST00000402622.2,ENST00000355635.3,ENST00000403813.2,ENST00000414165.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for KCNQ5 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370398 | 73713630 | 73713721 | Frame-shift |
| ENST00000370398 | 73902287 | 73902414 | Frame-shift |
| ENST00000370398 | 73814979 | 73815090 | In-frame |
| ENST00000370398 | 73834208 | 73834235 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370398 | 73713630 | 73713721 | Frame-shift |
| ENST00000370398 | 73902287 | 73902414 | Frame-shift |
| ENST00000370398 | 73814979 | 73815090 | In-frame |
| ENST00000370398 | 73834208 | 73834235 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCNQ5 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 73814979 | 73815090 | 1028 | 1138 | 306 | 343 |
| Loci of skipped exons in GTEx 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 | 73814979 | 73815090 | 1028 | 1138 | 306 | 343 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
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SNVs in the skipped exons for KCNQ5 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_453066 | 73713631 | 73713721 | 73713644 | 73713644 | Frame_Shift_Del | T | - | p.F138fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_453066 | 73713631 | 73713721 | 73713691 | 73713691 | Frame_Shift_Del | A | - | p.T153fs |
| LUAD | TCGA-69-A59K-01 | exon_skip_453067 | 73814980 | 73815090 | 73815020 | 73815020 | Frame_Shift_Del | T | - | p.L320fs |
| BLCA | TCGA-DK-A2I4-01 | exon_skip_453071 | 73843144 | 73843364 | 73843259 | 73843259 | Nonsense_Mutation | G | T | p.E455* |
| BLCA | TCGA-DK-A2I4-01 | exon_skip_453071 | 73843144 | 73843364 | 73843259 | 73843259 | Nonsense_Mutation | G | T | p.E474* |
| LUSC | TCGA-51-4080-01 | exon_skip_453066 | 73713631 | 73713721 | 73713722 | 73713722 | Splice_Site | G | C | p.L163_splice |
| UCEC | TCGA-D1-A16X-01 | exon_skip_453069 exon_skip_453068 | 73834209 | 73834235 | 73834236 | 73834236 | Splice_Site | G | A | e9+1 |
| STAD | TCGA-HU-A4G8-01 | exon_skip_453074 | 73902288 | 73902414 | 73902287 | 73902287 | Splice_Site | G | A | . |
| STAD | TCGA-HU-A4G8-01 | exon_skip_453074 | 73902288 | 73902414 | 73902287 | 73902287 | Splice_Site | G | A | p.R570_splice |
| STAD | TCGA-BR-4292-01 | exon_skip_453074 | 73902288 | 73902414 | 73902416 | 73902416 | Splice_Site | T | C | . |
| STAD | TCGA-BR-4292-01 | exon_skip_453074 | 73902288 | 73902414 | 73902416 | 73902416 | Splice_Site | T | C | p.Q612_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH1092_LUNG | 73713631 | 73713721 | 73713675 | 73713675 | Frame_Shift_Del | C | - | p.T148fs |
| MDAMB436_BREAST | 73814980 | 73815090 | 73814996 | 73814996 | Missense_Mutation | T | C | p.I312T |
| NCIH196_LUNG | 73814980 | 73815090 | 73815056 | 73815056 | Missense_Mutation | C | A | p.A332E |
| MCC13_SKIN | 73834209 | 73834235 | 73834211 | 73834211 | Missense_Mutation | A | T | p.K408I |
| NCIH841_LUNG | 73834209 | 73834235 | 73834226 | 73834226 | Missense_Mutation | C | A | p.A413E |
| HT115_LARGE_INTESTINE | 73843144 | 73843364 | 73843172 | 73843172 | Missense_Mutation | C | T | p.R426C |
| AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73843144 | 73843364 | 73843247 | 73843247 | Missense_Mutation | G | A | p.D451N |
| L33_PANCREAS | 73902288 | 73902414 | 73902314 | 73902314 | Missense_Mutation | A | G | p.Q579R |
| NCIH2009_LUNG | 73902288 | 73902414 | 73902373 | 73902373 | Missense_Mutation | G | T | p.D599Y |
| LC1F_LUNG | 73902288 | 73902414 | 73902392 | 73902392 | Missense_Mutation | G | T | p.R605L |
| LC1SQSF_LUNG | 73902288 | 73902414 | 73902392 | 73902392 | Missense_Mutation | G | T | p.R605L |
| LC1SQ_LUNG | 73902288 | 73902414 | 73902392 | 73902392 | Missense_Mutation | G | T | p.R605L |
| NUGC3_STOMACH | 73834209 | 73834235 | 73834235 | 73834235 | Splice_Site | G | T | p.S416I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNQ5 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNQ5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNQ5 |
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RelatedDrugs for KCNQ5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9NR82 | DB04953 | Ezogabine | Potassium voltage-gated channel subfamily KQT member 5 | small molecule | approved|investigational |
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RelatedDiseases for KCNQ5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KCNQ5 | C0027092 | Myopia | 1 | CTD_human |
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