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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 KCNT2 |
 Gene summary |
| Gene information | Gene symbol | KCNT2 | Gene ID | 343450 |
| Gene name | potassium sodium-activated channel subfamily T member 2 | |
| Synonyms | EIEE57|KCa4.2|SLICK|SLO2.1 | |
| Cytomap | 1q31.3 | |
| Type of gene | protein-coding | |
| Description | potassium channel subfamily T member 2potassium channel, subfamily T, member 2sequence like an intermediate conductance potassium channel subunitsodium and chloride-activated ATP-sensitive potassium channel Slo2.1sodium-and chloride-activated ATP-sens | |
| Modification date | 20180523 | |
| UniProtAcc | Q6UVM3 | |
| Context | PubMed: KCNT2 [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 |
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Exon skipping events across known transcript of Ensembl for KCNT2 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 KCNT2 |
| 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 KCNT2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35154 | 1 | 196227446:196227624:196228716:196228754:196242597:196242618 | 196228716:196228754 | ENSG00000162687.12 | ENST00000451324.2 |
| exon_skip_35155 | 1 | 196227446:196227624:196242597:196242618:196249989:196250118 | 196242597:196242618 | ENSG00000162687.12 | ENST00000609185.1,ENST00000610076.1 |
| exon_skip_35156 | 1 | 196254786:196254888:196274363:196274475:196285021:196285151 | 196274363:196274475 | ENSG00000162687.12 | ENST00000294725.9,ENST00000609185.1,ENST00000610076.1,ENST00000367433.5,ENST00000498426.1,ENST00000367431.4 |
| exon_skip_35161 | 1 | 196285021:196285156:196288613:196288685:196295846:196296019 | 196288613:196288685 | ENSG00000162687.12 | ENST00000294725.9 |
| exon_skip_35164 | 1 | 196309618:196309700:196311208:196311358:196342269:196342378 | 196311208:196311358 | ENSG00000162687.12 | ENST00000294725.9,ENST00000367433.5,ENST00000451324.2,ENST00000498426.1 |
| exon_skip_35166 | 1 | 196309618:196309700:196311208:196311379:196342269:196342378 | 196311208:196311379 | ENSG00000162687.12 | ENST00000610076.1 |
| exon_skip_35167 | 1 | 196309618:196309700:196342269:196342378:196367692:196367801 | 196342269:196342378 | ENSG00000162687.12 | ENST00000609185.1,ENST00000367431.4 |
| exon_skip_35170 | 1 | 196311208:196311358:196342269:196342378:196367692:196367801 | 196342269:196342378 | ENSG00000162687.12 | ENST00000294725.9,ENST00000367433.5,ENST00000451324.2,ENST00000498426.1 |
| exon_skip_35172 | 1 | 196436832:196436916:196438123:196438198:196448308:196448368 | 196438123:196438198 | ENSG00000162687.12 | ENST00000294725.9,ENST00000609185.1,ENST00000367433.5,ENST00000451324.2,ENST00000367431.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KCNT2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35154 | 1 | 196227446:196227624:196228716:196228754:196242597:196242618 | 196228716:196228754 | ENSG00000162687.12 | ENST00000451324.2 |
| exon_skip_35155 | 1 | 196227446:196227624:196242597:196242618:196249989:196250118 | 196242597:196242618 | ENSG00000162687.12 | ENST00000609185.1,ENST00000610076.1 |
| exon_skip_35156 | 1 | 196254786:196254888:196274363:196274475:196285021:196285151 | 196274363:196274475 | ENSG00000162687.12 | ENST00000367433.5,ENST00000498426.1,ENST00000367431.4,ENST00000609185.1,ENST00000294725.9,ENST00000610076.1 |
| exon_skip_35161 | 1 | 196285021:196285156:196288613:196288685:196295846:196296019 | 196288613:196288685 | ENSG00000162687.12 | ENST00000294725.9 |
| exon_skip_35164 | 1 | 196309618:196309700:196311208:196311358:196342269:196342378 | 196311208:196311358 | ENSG00000162687.12 | ENST00000367433.5,ENST00000498426.1,ENST00000451324.2,ENST00000294725.9 |
| exon_skip_35167 | 1 | 196309618:196309700:196342269:196342378:196367692:196367801 | 196342269:196342378 | ENSG00000162687.12 | ENST00000367431.4,ENST00000609185.1 |
| exon_skip_35169 | 1 | 196311208:196311358:196312185:196312235:196367692:196367801 | 196312185:196312235 | ENSG00000162687.12 | ENST00000466914.2 |
| exon_skip_35170 | 1 | 196311208:196311358:196342269:196342378:196367692:196367801 | 196342269:196342378 | ENSG00000162687.12 | ENST00000367433.5,ENST00000498426.1,ENST00000451324.2,ENST00000294725.9 |
| exon_skip_35172 | 1 | 196436832:196436916:196438123:196438198:196448308:196448368 | 196438123:196438198 | ENSG00000162687.12 | ENST00000367433.5,ENST00000367431.4,ENST00000609185.1,ENST00000451324.2,ENST00000294725.9 |
| 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 KCNT2 |
| 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 |
| ENST00000294725 | 196274363 | 196274475 | Frame-shift |
| ENST00000294725 | 196342269 | 196342378 | Frame-shift |
| ENST00000294725 | 196288613 | 196288685 | In-frame |
| ENST00000294725 | 196311208 | 196311358 | In-frame |
| ENST00000294725 | 196438123 | 196438198 | 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 |
| ENST00000294725 | 196274363 | 196274475 | Frame-shift |
| ENST00000294725 | 196342269 | 196342378 | Frame-shift |
| ENST00000294725 | 196288613 | 196288685 | In-frame |
| ENST00000294725 | 196311208 | 196311358 | In-frame |
| ENST00000294725 | 196438123 | 196438198 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCNT2 |
| 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 |
| ENST00000294725 | 4426 | 1135 | 196438123 | 196438198 | 1301 | 1375 | 128 | 153 |
| ENST00000294725 | 4426 | 1135 | 196311208 | 196311358 | 2320 | 2469 | 468 | 517 |
| ENST00000294725 | 4426 | 1135 | 196288613 | 196288685 | 3193 | 3264 | 759 | 782 |
| 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 |
| ENST00000294725 | 4426 | 1135 | 196438123 | 196438198 | 1301 | 1375 | 128 | 153 |
| ENST00000294725 | 4426 | 1135 | 196311208 | 196311358 | 2320 | 2469 | 468 | 517 |
| ENST00000294725 | 4426 | 1135 | 196288613 | 196288685 | 3193 | 3264 | 759 | 782 |
| 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 |
| Q6UVM3 | 128 | 153 | 129 | 153 | Alternative sequence | ID=VSP_029852;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 |
| Q6UVM3 | 128 | 153 | 1 | 1135 | Chain | ID=PRO_0000312503;Note=Potassium channel subfamily T member 2 |
| Q6UVM3 | 128 | 153 | 123 | 137 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UVM3 | 128 | 153 | 138 | 158 | Transmembrane | Note=Helical%3B Name%3DSegment S3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UVM3 | 468 | 517 | 468 | 468 | Alternative sequence | ID=VSP_029853;Note=In isoform 4. Q->QCVCLCCR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q6UVM3 | 468 | 517 | 469 | 518 | Alternative sequence | ID=VSP_029854;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6UVM3 | 468 | 517 | 1 | 1135 | Chain | ID=PRO_0000312503;Note=Potassium channel subfamily T member 2 |
| Q6UVM3 | 468 | 517 | 422 | 543 | Domain | Note=RCK N-terminal |
| Q6UVM3 | 468 | 517 | 278 | 1135 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UVM3 | 759 | 782 | 760 | 783 | Alternative sequence | ID=VSP_029855;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:1797 |
| Q6UVM3 | 759 | 782 | 1 | 1135 | Chain | ID=PRO_0000312503;Note=Potassium channel subfamily T member 2 |
| Q6UVM3 | 759 | 782 | 278 | 1135 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q6UVM3 | 128 | 153 | 129 | 153 | Alternative sequence | ID=VSP_029852;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 |
| Q6UVM3 | 128 | 153 | 1 | 1135 | Chain | ID=PRO_0000312503;Note=Potassium channel subfamily T member 2 |
| Q6UVM3 | 128 | 153 | 123 | 137 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UVM3 | 128 | 153 | 138 | 158 | Transmembrane | Note=Helical%3B Name%3DSegment S3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UVM3 | 468 | 517 | 468 | 468 | Alternative sequence | ID=VSP_029853;Note=In isoform 4. Q->QCVCLCCR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q6UVM3 | 468 | 517 | 469 | 518 | Alternative sequence | ID=VSP_029854;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6UVM3 | 468 | 517 | 1 | 1135 | Chain | ID=PRO_0000312503;Note=Potassium channel subfamily T member 2 |
| Q6UVM3 | 468 | 517 | 422 | 543 | Domain | Note=RCK N-terminal |
| Q6UVM3 | 468 | 517 | 278 | 1135 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UVM3 | 759 | 782 | 760 | 783 | Alternative sequence | ID=VSP_029855;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:1797 |
| Q6UVM3 | 759 | 782 | 1 | 1135 | Chain | ID=PRO_0000312503;Note=Potassium channel subfamily T member 2 |
| Q6UVM3 | 759 | 782 | 278 | 1135 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for KCNT2 |
| - 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-A1EG-01 | exon_skip_35164 | 196311209 | 196311358 | 196311262 | 196311262 | Frame_Shift_Del | A | - | p.F500fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35166 | 196311209 | 196311379 | 196311262 | 196311262 | Frame_Shift_Del | A | - | p.F500fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35164 | 196311209 | 196311358 | 196311262 | 196311262 | Frame_Shift_Del | A | - | p.F500fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35166 | 196311209 | 196311379 | 196311262 | 196311262 | Frame_Shift_Del | A | - | p.F500fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35164 | 196311209 | 196311358 | 196311262 | 196311262 | Frame_Shift_Del | A | - | p.F500fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35166 | 196311209 | 196311379 | 196311262 | 196311262 | Frame_Shift_Del | A | - | p.F500fs |
| HNSC | TCGA-CN-6998-01 | exon_skip_35164 | 196311209 | 196311358 | 196311261 | 196311262 | Frame_Shift_Ins | - | A | p.*501fs |
| HNSC | TCGA-CN-6998-01 | exon_skip_35164 | 196311209 | 196311358 | 196311261 | 196311262 | Frame_Shift_Ins | - | A | p.F500fs |
| HNSC | TCGA-CN-6998-01 | exon_skip_35166 | 196311209 | 196311379 | 196311261 | 196311262 | Frame_Shift_Ins | - | A | p.*501fs |
| HNSC | TCGA-CN-6998-01 | exon_skip_35166 | 196311209 | 196311379 | 196311261 | 196311262 | Frame_Shift_Ins | - | A | p.F500fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_35164 | 196311209 | 196311358 | 196311261 | 196311262 | Frame_Shift_Ins | - | A | p.A501fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_35166 | 196311209 | 196311379 | 196311261 | 196311262 | Frame_Shift_Ins | - | A | p.A501fs |
| BRCA | TCGA-B6-A0IK-01 | exon_skip_35156 | 196274364 | 196274475 | 196274447 | 196274447 | Nonsense_Mutation | C | A | p.E838* |
| LUAD | TCGA-73-7498-01 | exon_skip_35170 exon_skip_35167 | 196342270 | 196342378 | 196342361 | 196342361 | Nonsense_Mutation | C | A | p.E438* |
| THYM | TCGA-ZB-A96D-01 | exon_skip_35172 | 196438124 | 196438198 | 196438174 | 196438174 | Nonsense_Mutation | G | A | p.R137* |
| LUSC | TCGA-33-4538-01 | exon_skip_35164 | 196311209 | 196311358 | 196311207 | 196311207 | Splice_Site | A | C | p.K518_splice |
| LUSC | TCGA-33-4538-01 | exon_skip_35166 | 196311209 | 196311379 | 196311207 | 196311207 | Splice_Site | A | C | p.K518_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 |
| HGC27_STOMACH | 196274364 | 196274475 | 196274441 | 196274441 | Missense_Mutation | T | G | p.T840P |
| NCIH1930_LUNG | 196311209 | 196311379 | 196311216 | 196311216 | Missense_Mutation | G | T | p.H516N |
| NCIH1930_LUNG | 196311209 | 196311358 | 196311216 | 196311216 | Missense_Mutation | G | T | p.H516N |
| M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 196311209 | 196311379 | 196311228 | 196311228 | Missense_Mutation | A | C | p.S512A |
| M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 196311209 | 196311358 | 196311228 | 196311228 | Missense_Mutation | A | C | p.S512A |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 196311209 | 196311379 | 196311244 | 196311244 | Missense_Mutation | C | G | p.K506N |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 196311209 | 196311358 | 196311244 | 196311244 | Missense_Mutation | C | G | p.K506N |
| EN_ENDOMETRIUM | 196311209 | 196311379 | 196311273 | 196311273 | Missense_Mutation | T | C | p.S497G |
| EN_ENDOMETRIUM | 196311209 | 196311358 | 196311273 | 196311273 | Missense_Mutation | T | C | p.S497G |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 196311209 | 196311379 | 196311320 | 196311320 | Missense_Mutation | T | A | p.Y481F |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 196311209 | 196311358 | 196311320 | 196311320 | Missense_Mutation | T | A | p.Y481F |
| MDAPCA2B_PROSTATE | 196342270 | 196342378 | 196342315 | 196342315 | Missense_Mutation | G | A | p.A453V |
| SNGM_ENDOMETRIUM | 196438124 | 196438198 | 196438159 | 196438159 | Missense_Mutation | A | C | p.L142V |
| NCIH1651_LUNG | 196438124 | 196438198 | 196438173 | 196438173 | Missense_Mutation | C | A | p.R137L |
| BEN_LUNG | 196438124 | 196438198 | 196438192 | 196438192 | Missense_Mutation | T | C | p.I131V |
| SNUC4_LARGE_INTESTINE | 196342270 | 196342378 | 196342326 | 196342326 | Nonsense_Mutation | A | T | p.C449* |
| TE6_OESOPHAGUS | 196274364 | 196274475 | 196274474 | 196274474 | Splice_Site | A | T | p.L829M |
| COLO679_SKIN | 196438124 | 196438198 | 196438197 | 196438197 | Splice_Site | C | T | p.G129E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNT2 |
| 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 KCNT2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNT2 |
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RelatedDrugs for KCNT2 |
| 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 |
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RelatedDiseases for KCNT2 |
| 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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