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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 KCNMA1 |
 Gene summary |
| Gene information | Gene symbol | KCNMA1 | Gene ID | 3778 |
| Gene name | potassium calcium-activated channel subfamily M alpha 1 | |
| Synonyms | BKTM|CADEDS|KCa1.1|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1 | |
| Cytomap | 10q22.3 | |
| Type of gene | protein-coding | |
| Description | calcium-activated potassium channel subunit alpha-1uncharacterized proteinBK channel alpha subunitBKCA alpha subunitbig potassium channel alpha subunitcalcium-activated potassium channel, subfamily M subunit alpha-1k(VCA)alphamaxi-K channel HSLOpo | |
| Modification date | 20180523 | |
| UniProtAcc | Q12791 | |
| Context | PubMed: KCNMA1 [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 |
| KCNMA1 | GO:0001666 | response to hypoxia | 15528406 |
| KCNMA1 | GO:0006813 | potassium ion transport | 7573516|7877450|11245614|12388065|17706472|18458941 |
| KCNMA1 | GO:0006970 | response to osmotic stress | 10840032|12388065 |
| KCNMA1 | GO:0030007 | cellular potassium ion homeostasis | 11245614 |
| KCNMA1 | GO:0034465 | response to carbon monoxide | 15528406 |
| KCNMA1 | GO:0042391 | regulation of membrane potential | 7877450|7993625 |
| KCNMA1 | GO:0045794 | negative regulation of cell volume | 12388065 |
| KCNMA1 | GO:0051592 | response to calcium ion | 12388065|18458941 |
| KCNMA1 | GO:0060073 | micturition | 11641143 |
| KCNMA1 | GO:0060083 | smooth muscle contraction involved in micturition | 11641143 |
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Exon skipping events across known transcript of Ensembl for KCNMA1 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 KCNMA1 |
| 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 KCNMA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_51328 | 10 | 78637354:78637648:78644746:78644775:78647048:78647273 | 78644746:78644775 | ENSG00000156113.16 | ENST00000372408.2,ENST00000404771.3 |
| exon_skip_51329 | 10 | 78637496:78637651:78644746:78644775:78647048:78647273 | 78644746:78644775 | ENSG00000156113.16 | ENST00000372403.4 |
| exon_skip_51330 | 10 | 78647222:78647273:78649208:78649327:78651282:78651477 | 78649208:78649327 | ENSG00000156113.16 | ENST00000406533.3,ENST00000372408.2,ENST00000372421.5,ENST00000354353.5,ENST00000372443.1,ENST00000286627.5,ENST00000286628.8,ENST00000372440.1,ENST00000457953.1,ENST00000372437.1,ENST00000372403.4,ENST00000434208.1,ENST00000404771.3,ENST00000604624.1,ENS |
| exon_skip_51331 | 10 | 78649208:78649327:78651282:78651477:78669723:78669854 | 78651282:78651477 | ENSG00000156113.16 | ENST00000406533.3,ENST00000372408.2,ENST00000372421.5,ENST00000354353.5,ENST00000372443.1,ENST00000286627.5,ENST00000286628.8,ENST00000372440.1,ENST00000457953.1,ENST00000372437.1,ENST00000372403.4,ENST00000434208.1,ENST00000404771.3,ENST00000604624.1,ENS |
| exon_skip_51332 | 10 | 78669723:78669854:78673814:78673895:78674693:78674807 | 78673814:78673895 | ENSG00000156113.16 | ENST00000372443.1 |
| exon_skip_51334 | 10 | 78674693:78674807:78704530:78704723:78708899:78709124 | 78704530:78704723 | ENSG00000156113.16 | ENST00000406533.3,ENST00000372408.2,ENST00000372421.5,ENST00000354353.5,ENST00000372443.1,ENST00000286627.5,ENST00000286628.8,ENST00000372440.1,ENST00000457953.1,ENST00000372437.1,ENST00000372403.4,ENST00000434208.1,ENST00000404771.3,ENST00000604624.1,ENS |
| exon_skip_51335 | 10 | 78708899:78709124:78711794:78711917:78713558:78713682 | 78711794:78711917 | ENSG00000156113.16 | ENST00000404857.1 |
| exon_skip_51336 | 10 | 78713558:78713682:78729731:78729825:78771724:78771801 | 78729731:78729825 | ENSG00000156113.16 | ENST00000372408.2,ENST00000372421.5,ENST00000372443.1,ENST00000286627.5,ENST00000372440.1,ENST00000372403.4,ENST00000604624.1,ENST00000404857.1 |
| exon_skip_51338 | 10 | 78729731:78729825:78734244:78734331:78771724:78771801 | 78734244:78734331 | ENSG00000156113.16 | ENST00000434208.1 |
| exon_skip_51339 | 10 | 78729731:78729825:78761164:78761338:78771724:78771801 | 78761164:78761338 | ENSG00000156113.16 | ENST00000406533.3,ENST00000286628.8,ENST00000457953.1,ENST00000372437.1,ENST00000404771.3 |
| exon_skip_51340 | 10 | 78734244:78734331:78737300:78737396:78771724:78771801 | 78737300:78737396 | ENSG00000156113.16 | ENST00000354353.5 |
| exon_skip_51342 | 10 | 78778770:78778857:78785203:78785215:78787580:78787649 | 78785203:78785215 | ENSG00000156113.16 | ENST00000604624.1 |
| exon_skip_51344 | 10 | 78778770:78778857:78787580:78787649:78799285:78799395 | 78787580:78787649 | ENSG00000156113.16 | ENST00000372408.2,ENST00000372421.5,ENST00000354353.5,ENST00000372443.1,ENST00000286627.5,ENST00000286628.8,ENST00000372440.1,ENST00000457953.1,ENST00000450795.1,ENST00000372437.1,ENST00000372403.4,ENST00000434208.1,ENST00000404771.3,ENST00000428546.1,ENS |
| exon_skip_51348 | 10 | 78850157:78850268:78868238:78868330:78869930:78870096 | 78868238:78868330 | ENSG00000156113.16 | ENST00000406533.3,ENST00000372408.2,ENST00000372421.5,ENST00000354353.5,ENST00000372443.1,ENST00000286627.5,ENST00000286628.8,ENST00000372440.1,ENST00000457953.1,ENST00000372437.1,ENST00000372403.4,ENST00000434208.1,ENST00000404771.3,ENST00000604624.1,ENS |
| exon_skip_51350 | 10 | 79010952:79011014:79163619:79163781:79397022:79397205 | 79163619:79163781 | ENSG00000156113.16 | ENST00000406533.3,ENST00000372408.2,ENST00000372421.5,ENST00000354353.5,ENST00000372443.1,ENST00000286627.5,ENST00000286628.8,ENST00000372440.1,ENST00000457953.1,ENST00000372437.1,ENST00000372403.4,ENST00000404771.3,ENST00000404857.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KCNMA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_51328 | 10 | 78637354:78637648:78644746:78644775:78647048:78647273 | 78644746:78644775 | ENSG00000156113.16 | ENST00000372408.2,ENST00000404771.3 |
| exon_skip_51329 | 10 | 78637496:78637651:78644746:78644775:78647048:78647273 | 78644746:78644775 | ENSG00000156113.16 | ENST00000372403.4 |
| exon_skip_51330 | 10 | 78647222:78647273:78649208:78649327:78651282:78651477 | 78649208:78649327 | ENSG00000156113.16 | ENST00000604624.1,ENST00000372437.1,ENST00000372408.2,ENST00000372421.5,ENST00000457953.1,ENST00000404771.3,ENST00000372440.1,ENST00000372443.1,ENST00000372403.4,ENST00000434208.1,ENST00000286628.8,ENST00000286627.5,ENST00000406533.3,ENST00000354353.5,ENS |
| exon_skip_51331 | 10 | 78649208:78649327:78651282:78651477:78669723:78669854 | 78651282:78651477 | ENSG00000156113.16 | ENST00000604624.1,ENST00000372437.1,ENST00000372408.2,ENST00000372421.5,ENST00000457953.1,ENST00000404771.3,ENST00000372440.1,ENST00000372443.1,ENST00000372403.4,ENST00000434208.1,ENST00000286628.8,ENST00000286627.5,ENST00000406533.3,ENST00000354353.5,ENS |
| exon_skip_51332 | 10 | 78669723:78669854:78673814:78673895:78674693:78674807 | 78673814:78673895 | ENSG00000156113.16 | ENST00000372443.1 |
| exon_skip_51334 | 10 | 78674693:78674807:78704530:78704723:78708899:78709124 | 78704530:78704723 | ENSG00000156113.16 | ENST00000604624.1,ENST00000372437.1,ENST00000372408.2,ENST00000372421.5,ENST00000457953.1,ENST00000404771.3,ENST00000372440.1,ENST00000372443.1,ENST00000372403.4,ENST00000434208.1,ENST00000286628.8,ENST00000286627.5,ENST00000406533.3,ENST00000354353.5,ENS |
| exon_skip_51335 | 10 | 78708899:78709124:78711794:78711917:78713558:78713682 | 78711794:78711917 | ENSG00000156113.16 | ENST00000404857.1 |
| exon_skip_51336 | 10 | 78713558:78713682:78729731:78729825:78771724:78771801 | 78729731:78729825 | ENSG00000156113.16 | ENST00000604624.1,ENST00000372408.2,ENST00000372421.5,ENST00000372440.1,ENST00000372443.1,ENST00000372403.4,ENST00000286627.5,ENST00000404857.1 |
| exon_skip_51338 | 10 | 78729731:78729825:78734244:78734331:78771724:78771801 | 78734244:78734331 | ENSG00000156113.16 | ENST00000434208.1 |
| exon_skip_51339 | 10 | 78729731:78729825:78761164:78761338:78771724:78771801 | 78761164:78761338 | ENSG00000156113.16 | ENST00000372437.1,ENST00000457953.1,ENST00000404771.3,ENST00000286628.8,ENST00000406533.3 |
| exon_skip_51340 | 10 | 78734244:78734331:78737300:78737396:78771724:78771801 | 78737300:78737396 | ENSG00000156113.16 | ENST00000354353.5 |
| exon_skip_51342 | 10 | 78778770:78778857:78785203:78785215:78787580:78787649 | 78785203:78785215 | ENSG00000156113.16 | ENST00000604624.1 |
| exon_skip_51344 | 10 | 78778770:78778857:78787580:78787649:78799285:78799395 | 78787580:78787649 | ENSG00000156113.16 | ENST00000372437.1,ENST00000372408.2,ENST00000372421.5,ENST00000457953.1,ENST00000404771.3,ENST00000372440.1,ENST00000372443.1,ENST00000372403.4,ENST00000434208.1,ENST00000286628.8,ENST00000286627.5,ENST00000354353.5,ENST00000404857.1,ENST00000450795.1,ENS |
| exon_skip_51348 | 10 | 78850157:78850268:78868238:78868330:78869930:78870096 | 78868238:78868330 | ENSG00000156113.16 | ENST00000604624.1,ENST00000372437.1,ENST00000372408.2,ENST00000372421.5,ENST00000457953.1,ENST00000404771.3,ENST00000372440.1,ENST00000372443.1,ENST00000372403.4,ENST00000434208.1,ENST00000286628.8,ENST00000286627.5,ENST00000406533.3,ENST00000354353.5,ENS |
| exon_skip_51350 | 10 | 79010952:79011014:79163619:79163781:79397022:79397205 | 79163619:79163781 | ENSG00000156113.16 | ENST00000372437.1,ENST00000372408.2,ENST00000372421.5,ENST00000457953.1,ENST00000404771.3,ENST00000372440.1,ENST00000372443.1,ENST00000372403.4,ENST00000286628.8,ENST00000286627.5,ENST00000406533.3,ENST00000354353.5,ENST00000404857.1 |
| 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 KCNMA1 |
| 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 |
| ENST00000286628 | 78649208 | 78649327 | Frame-shift |
| ENST00000286628 | 78704530 | 78704723 | Frame-shift |
| ENST00000286628 | 78868238 | 78868330 | Frame-shift |
| ENST00000286628 | 78651282 | 78651477 | In-frame |
| ENST00000286628 | 78761164 | 78761338 | In-frame |
| ENST00000286628 | 78787580 | 78787649 | In-frame |
| ENST00000286628 | 79163619 | 79163781 | 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 |
| ENST00000286628 | 78649208 | 78649327 | Frame-shift |
| ENST00000286628 | 78704530 | 78704723 | Frame-shift |
| ENST00000286628 | 78868238 | 78868330 | Frame-shift |
| ENST00000286628 | 78651282 | 78651477 | In-frame |
| ENST00000286628 | 78761164 | 78761338 | In-frame |
| ENST00000286628 | 78787580 | 78787649 | In-frame |
| ENST00000286628 | 79163619 | 79163781 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCNMA1 |
| 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 |
| ENST00000286628 | 6113 | 1236 | 79163619 | 79163781 | 379 | 540 | 126 | 180 |
| ENST00000286628 | 6113 | 1236 | 78787580 | 78787649 | 1860 | 1928 | 620 | 642 |
| ENST00000286628 | 6113 | 1236 | 78761164 | 78761338 | 2093 | 2266 | 697 | 755 |
| ENST00000286628 | 6113 | 1236 | 78651282 | 78651477 | 3148 | 3342 | 1049 | 1114 |
| 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 |
| ENST00000286628 | 6113 | 1236 | 79163619 | 79163781 | 379 | 540 | 126 | 180 |
| ENST00000286628 | 6113 | 1236 | 78787580 | 78787649 | 1860 | 1928 | 620 | 642 |
| ENST00000286628 | 6113 | 1236 | 78761164 | 78761338 | 2093 | 2266 | 697 | 755 |
| ENST00000286628 | 6113 | 1236 | 78651282 | 78651477 | 3148 | 3342 | 1049 | 1114 |
| 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 KCNMA1 |
| - 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-G3-A3CJ-01 | exon_skip_51332 | 78673815 | 78673895 | 78673850 | 78673850 | Frame_Shift_Del | T | - | p.N963fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_51334 | 78704531 | 78704723 | 78704693 | 78704693 | Frame_Shift_Del | C | - | p.A856fs |
| ACC | TCGA-OR-A5JS-01 | exon_skip_51336 | 78729732 | 78729825 | 78729786 | 78729786 | Frame_Shift_Del | T | - | p.K769fs |
| LIHC | TCGA-DD-A4NE-01 | exon_skip_51336 | 78729732 | 78729825 | 78729786 | 78729786 | Frame_Shift_Del | T | - | p.K711fs |
| PCPG | TCGA-QT-A5XN-01 | exon_skip_51336 | 78729732 | 78729825 | 78729786 | 78729786 | Frame_Shift_Del | T | - | p.K711fs |
| PRAD | TCGA-EJ-7783-01 | exon_skip_51336 | 78729732 | 78729825 | 78729786 | 78729786 | Frame_Shift_Del | T | - | p.K711fs |
| STAD | TCGA-BR-6452-01 | exon_skip_51336 | 78729732 | 78729825 | 78729786 | 78729787 | Frame_Shift_Del | TT | - | p.769_769del |
| LGG | TCGA-S9-A6WQ-01 | exon_skip_51336 | 78729732 | 78729825 | 78729785 | 78729786 | Frame_Shift_Ins | - | T | p.T711fs |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_51331 | 78651283 | 78651477 | 78651324 | 78651324 | Nonsense_Mutation | C | T | p.W993* |
| CHOL | TCGA-YR-A95A-01 | exon_skip_51334 | 78704531 | 78704723 | 78704653 | 78704653 | Nonsense_Mutation | G | T | p.S927X |
| HNSC | TCGA-CR-7402-01 | exon_skip_51336 | 78729732 | 78729825 | 78729807 | 78729807 | Nonsense_Mutation | G | C | p.S704* |
| HNSC | TCGA-CR-7402-01 | exon_skip_51336 | 78729732 | 78729825 | 78729807 | 78729807 | Nonsense_Mutation | G | C | p.S762* |
| ACC | TCGA-OR-A5JA-01 | exon_skip_51339 | 78761165 | 78761338 | 78761184 | 78761184 | Nonsense_Mutation | G | T | p.C749* |
| LIHC | TCGA-DD-A4NJ-01 | exon_skip_51339 | 78761165 | 78761338 | 78761222 | 78761222 | Nonsense_Mutation | T | A | p.R737* |
| LIHC | TCGA-DD-A4NJ-01 | exon_skip_51339 | 78761165 | 78761338 | 78761222 | 78761222 | Nonsense_Mutation | T | A | p.R737X |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_51348 | 78868239 | 78868330 | 78868297 | 78868297 | Nonsense_Mutation | C | A | p.E389* |
| UCEC | TCGA-AP-A051-01 | exon_skip_51336 | 78729732 | 78729825 | 78729731 | 78729731 | Splice_Site | C | T | e20+1 |
| - 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 |
| A498_KIDNEY | 78649209 | 78649327 | 78649230 | 78649230 | Missense_Mutation | G | T | p.T1147N |
| SISO_CERVIX | 78651283 | 78651477 | 78651327 | 78651327 | Missense_Mutation | C | T | p.V1100M |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78651283 | 78651477 | 78651327 | 78651327 | Missense_Mutation | C | T | p.V1100M |
| SW684_SOFT_TISSUE | 78651283 | 78651477 | 78651348 | 78651348 | Missense_Mutation | C | T | p.A1093T |
| HEC251_ENDOMETRIUM | 78651283 | 78651477 | 78651392 | 78651392 | Missense_Mutation | T | C | p.E1078G |
| CP66MEL_SKIN | 78651283 | 78651477 | 78651426 | 78651426 | Missense_Mutation | C | T | p.G1067R |
| NCIH513_PLEURA | 78651283 | 78651477 | 78651451 | 78651452 | Missense_Mutation | GG | TT | p.T1058K |
| HT115_LARGE_INTESTINE | 78704531 | 78704723 | 78704560 | 78704560 | Missense_Mutation | C | T | p.S958N |
| TT_OESOPHAGUS | 78704531 | 78704723 | 78704564 | 78704564 | Missense_Mutation | C | A | p.D957Y |
| TT_OESOPHAGUS | 78704531 | 78704723 | 78704601 | 78704601 | Missense_Mutation | G | C | p.I944M |
| NCIH510_LUNG | 78704531 | 78704723 | 78704617 | 78704617 | Missense_Mutation | T | A | p.Q939L |
| HCC2450_LUNG | 78704531 | 78704723 | 78704672 | 78704672 | Missense_Mutation | C | A | p.D921Y |
| HN_UPPER_AERODIGESTIVE_TRACT | 78704531 | 78704723 | 78704707 | 78704707 | Missense_Mutation | C | T | p.R909Q |
| SNU520_STOMACH | 78729732 | 78729825 | 78729747 | 78729747 | Missense_Mutation | G | A | p.S782L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78761165 | 78761338 | 78761219 | 78761219 | Missense_Mutation | C | T | p.A738T |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78761165 | 78761338 | 78761219 | 78761219 | Missense_Mutation | C | T | p.A738T |
| JHH7_LIVER | 78761165 | 78761338 | 78761234 | 78761234 | Missense_Mutation | C | T | p.D733N |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78761165 | 78761338 | 78761237 | 78761237 | Missense_Mutation | C | T | p.V732M |
| HOS_BONE | 78761165 | 78761338 | 78761275 | 78761275 | Missense_Mutation | C | T | p.R719H |
| NCIH1341_LUNG | 78761165 | 78761338 | 78761279 | 78761279 | Missense_Mutation | C | G | p.E718Q |
| NCIH1793_LUNG | 78787581 | 78787649 | 78787610 | 78787610 | Missense_Mutation | A | C | p.I633M |
| 451LU_SKIN | 78868239 | 78868330 | 78868242 | 78868242 | Missense_Mutation | C | T | p.R407K |
| HT144_SKIN | 78868239 | 78868330 | 78868255 | 78868255 | Missense_Mutation | C | G | p.A403P |
| SARC9371_BONE | 78868239 | 78868330 | 78868287 | 78868287 | Missense_Mutation | C | T | p.G392E |
| AGS_STOMACH | 78868239 | 78868330 | 78868292 | 78868292 | Missense_Mutation | T | G | p.L390F |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78868239 | 78868330 | 78868297 | 78868297 | Missense_Mutation | C | T | p.E389K |
| HCC2998_LARGE_INTESTINE | 79163620 | 79163781 | 79163625 | 79163625 | Missense_Mutation | C | A | p.V179F |
| SNU175_LARGE_INTESTINE | 79163620 | 79163781 | 79163646 | 79163646 | Missense_Mutation | C | T | p.A172T |
| CAOV3_OVARY | 78761165 | 78761338 | 78761184 | 78761184 | Nonsense_Mutation | G | T | p.C749* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNMA1 |
| 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 KCNMA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNMA1 |
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RelatedDrugs for KCNMA1 |
| 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 |
| Q12791 | DB00356 | Chlorzoxazone | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved | |
| Q12791 | DB00436 | Bendroflumethiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved | |
| Q12791 | DB01003 | Cromoglicic acid | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved | |
| Q12791 | DB01119 | Diazoxide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved | |
| Q12791 | DB09089 | Trimebutine | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved | |
| Q12791 | DB00774 | Hydroflumethiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational | |
| Q12791 | DB04209 | Dequalinium | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational | |
| Q12791 | DB00721 | Procaine | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational|vet_approved | |
| Q12791 | DB01110 | Miconazole | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational|vet_approved | |
| Q12791 | DB00999 | Hydrochlorothiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|vet_approved | |
| Q12791 | DB01159 | Halothane | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|vet_approved |
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RelatedDiseases for KCNMA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KCNMA1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| KCNMA1 | C0005944 | Metabolic Bone Disorder | 1 | CTD_human |
| KCNMA1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| KCNMA1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| KCNMA1 | C0028756 | Obesity, Morbid | 1 | CTD_human |
| KCNMA1 | C0038220 | Status Epilepticus | 1 | CTD_human |
| KCNMA1 | C1836173 | Generalized Epilepsy and Paroxysmal Dyskinesia | 1 | CTD_human;ORPHANET;UNIPROT |
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