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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 KCNJ5 |
 Gene summary |
| Gene information | Gene symbol | KCNJ5 | Gene ID | 3762 |
| Gene name | potassium voltage-gated channel subfamily J member 5 | |
| Synonyms | CIR|GIRK4|KATP1|KIR3.4|LQT13 | |
| Cytomap | 11q24.3 | |
| Type of gene | protein-coding | |
| Description | G protein-activated inward rectifier potassium channel 4IRK-4cardiac ATP-sensitive potassium channelheart KATP channelinward rectifier K+ channel KIR3.4potassium channel, inwardly rectifying subfamily J, member 5potassium inwardly-rectifying channel | |
| Modification date | 20180523 | |
| UniProtAcc | P48544 | |
| Context | PubMed: KCNJ5 [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 |
| KCNJ5 | GO:0010107 | potassium ion import | 12297500 |
| KCNJ5 | GO:1990573 | potassium ion import across plasma membrane | 20560207 |
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Exon skipping events across known transcript of Ensembl for KCNJ5 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 KCNJ5 |
| 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 KCNJ5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66692 | 11 | 128761363:128761616:128779746:128779835:128781158:128782105 | 128779746:128779835 | ENSG00000120457.7 | ENST00000338350.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KCNJ5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66692 | 11 | 128761363:128761616:128779746:128779835:128781158:128782105 | 128779746:128779835 | ENSG00000120457.7 | ENST00000338350.4 |
| 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 KCNJ5 |
| 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 |
| ENST00000338350 | 128779746 | 128779835 | 5UTR-5UTR |
| 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 |
| ENST00000338350 | 128779746 | 128779835 | 5UTR-5UTR |
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Infer the effects of exon skipping event on protein functional features for KCNJ5 |
| 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 |
| 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 |
| 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 KCNJ5 |
| - 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 |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNJ5 |
| 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 KCNJ5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNJ5 |
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RelatedDrugs for KCNJ5 |
| 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 |
| P48544 | DB00898 | Ethanol | G protein-activated inward rectifier potassium channel 4 | small molecule | approved | |
| P48544 | DB01016 | Glyburide | G protein-activated inward rectifier potassium channel 4 | small molecule | approved |
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RelatedDiseases for KCNJ5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KCNJ5 | C3150933 | HYPERALDOSTERONISM, FAMILIAL, TYPE III | 9 | ORPHANET;UNIPROT |
| KCNJ5 | C0001430 | Adenoma | 2 | CTD_human |
| KCNJ5 | C3150733 | LONG QT SYNDROME 13 | 1 | CTD_human;UNIPROT |
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