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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 KCNN4 |
 Gene summary |
| Gene information | Gene symbol | KCNN4 | Gene ID | 3783 |
| Gene name | potassium calcium-activated channel subfamily N member 4 | |
| Synonyms | DHS2|IK|IK1|IKCA1|KCA4|KCa3.1|SK4|hIKCa1|hKCa4|hSK4 | |
| Cytomap | 19q13.31 | |
| Type of gene | protein-coding | |
| Description | intermediate conductance calcium-activated potassium channel protein 4SKCa 4SKCa4potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4potassium intermediate/small conductance calcium-activated channel, subfami | |
| Modification date | 20180523 | |
| UniProtAcc | O15554 | |
| Context | PubMed: KCNN4 [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 |
| KCNN4 | GO:0006816 | calcium ion transport | 18796614 |
| KCNN4 | GO:0030322 | stabilization of membrane potential | 18796614 |
| KCNN4 | GO:0050862 | positive regulation of T cell receptor signaling pathway | 18796614 |
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Exon skipping events across known transcript of Ensembl for KCNN4 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 KCNN4 |
| 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 KCNN4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_319314 | 19 | 44271104:44271241:44271691:44271859:44273114:44273129 | 44271691:44271859 | ENSG00000104783.7 | ENST00000597184.1,ENST00000598836.1,ENST00000599720.1,ENST00000262888.3 |
| exon_skip_319317 | 19 | 44273114:44273184:44273484:44273712:44273870:44273979 | 44273484:44273712 | ENSG00000104783.7 | ENST00000600408.1 |
| exon_skip_319318 | 19 | 44273114:44273184:44273498:44273650:44273870:44273979 | 44273498:44273650 | ENSG00000104783.7 | ENST00000598836.1 |
| exon_skip_319320 | 19 | 44273114:44273184:44273593:44273712:44273870:44273979 | 44273593:44273712 | ENSG00000104783.7 | ENST00000599720.1,ENST00000262888.3 |
| exon_skip_319326 | 19 | 44273870:44273981:44276151:44276255:44284854:44285128 | 44276151:44276255 | ENSG00000104783.7 | ENST00000599720.1 |
| exon_skip_319349 | 19 | 44276151:44276287:44278343:44278771:44280692:44280788 | 44278343:44278771 | ENSG00000104783.7 | ENST00000262888.3 |
| exon_skip_319357 | 19 | 44278448:44278771:44280692:44280788:44284854:44285128 | 44280692:44280788 | ENSG00000104783.7 | ENST00000262888.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KCNN4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_319317 | 19 | 44273114:44273184:44273484:44273712:44273870:44273979 | 44273484:44273712 | ENSG00000104783.7 | ENST00000600408.1 |
| exon_skip_319318 | 19 | 44273114:44273184:44273498:44273650:44273870:44273979 | 44273498:44273650 | ENSG00000104783.7 | ENST00000598836.1 |
| exon_skip_319320 | 19 | 44273114:44273184:44273593:44273712:44273870:44273979 | 44273593:44273712 | ENSG00000104783.7 | ENST00000262888.3,ENST00000599720.1 |
| exon_skip_319326 | 19 | 44273870:44273981:44276151:44276255:44284854:44285128 | 44276151:44276255 | ENSG00000104783.7 | ENST00000599720.1 |
| exon_skip_319357 | 19 | 44278448:44278771:44280692:44280788:44284854:44285128 | 44280692:44280788 | ENSG00000104783.7 | ENST00000262888.3 |
| 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 KCNN4 |
| 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 |
| ENST00000262888 | 44271691 | 44271859 | 5CDS-5UTR |
| ENST00000262888 | 44273593 | 44273712 | Frame-shift |
| ENST00000262888 | 44278343 | 44278771 | Frame-shift |
| ENST00000262888 | 44280692 | 44280788 | 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 |
| ENST00000262888 | 44273593 | 44273712 | Frame-shift |
| ENST00000262888 | 44280692 | 44280788 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCNN4 |
| 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 |
| ENST00000262888 | 2257 | 427 | 44280692 | 44280788 | 556 | 651 | 53 | 85 |
| 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 |
| ENST00000262888 | 2257 | 427 | 44280692 | 44280788 | 556 | 651 | 53 | 85 |
| 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 |
| O15554 | 53 | 85 | 1 | 427 | Chain | ID=PRO_0000155017;Note=Intermediate conductance calcium-activated potassium channel protein 4 |
| O15554 | 53 | 85 | 57 | 91 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CNM |
| O15554 | 53 | 85 | 66 | 66 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O15554 | 53 | 85 | 59 | 79 | Transmembrane | Note=Helical%3B Name%3DSegment S2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15554 | 53 | 85 | 51 | 56 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CNM |
| 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 |
| O15554 | 53 | 85 | 1 | 427 | Chain | ID=PRO_0000155017;Note=Intermediate conductance calcium-activated potassium channel protein 4 |
| O15554 | 53 | 85 | 57 | 91 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CNM |
| O15554 | 53 | 85 | 66 | 66 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O15554 | 53 | 85 | 59 | 79 | Transmembrane | Note=Helical%3B Name%3DSegment S2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15554 | 53 | 85 | 51 | 56 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CNM |
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SNVs in the skipped exons for KCNN4 |
| - 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-AAD3-01 | exon_skip_319317 | 44273485 | 44273712 | 44273601 | 44273601 | Frame_Shift_Del | T | - | p.I348fs |
| LIHC | TCGA-DD-AAD3-01 | exon_skip_319318 | 44273499 | 44273650 | 44273601 | 44273601 | Frame_Shift_Del | T | - | p.I348fs |
| LIHC | TCGA-DD-AAD3-01 | exon_skip_319320 | 44273594 | 44273712 | 44273601 | 44273601 | Frame_Shift_Del | T | - | p.I348fs |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_319314 | 44271692 | 44271859 | 44271757 | 44271757 | Nonsense_Mutation | C | A | p.E408* |
| - 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 |
| HUG1N_STOMACH | 44273485 | 44273712 | 44273707 | 44273709 | In_Frame_Del | CTT | - | p.K312del |
| HUG1N_STOMACH | 44273594 | 44273712 | 44273707 | 44273709 | In_Frame_Del | CTT | - | p.K312del |
| SISO_CERVIX | 44271692 | 44271859 | 44271780 | 44271780 | Missense_Mutation | G | A | p.A400V |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44271692 | 44271859 | 44271780 | 44271780 | Missense_Mutation | G | A | p.A400V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44271692 | 44271859 | 44271811 | 44271811 | Missense_Mutation | G | A | p.R390W |
| HEC59_ENDOMETRIUM | 44273485 | 44273712 | 44273606 | 44273606 | Missense_Mutation | G | A | p.A346V |
| HEC59_ENDOMETRIUM | 44273499 | 44273650 | 44273606 | 44273606 | Missense_Mutation | G | A | p.A346V |
| HEC59_ENDOMETRIUM | 44273594 | 44273712 | 44273606 | 44273606 | Missense_Mutation | G | A | p.A346V |
| HEC251_ENDOMETRIUM | 44276152 | 44276255 | 44276178 | 44276178 | Missense_Mutation | T | C | p.I265V |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44276152 | 44276255 | 44276179 | 44276179 | Missense_Mutation | C | A | p.K264N |
| HEC59_ENDOMETRIUM | 44276152 | 44276255 | 44276187 | 44276187 | Missense_Mutation | A | G | p.W262R |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 44278344 | 44278771 | 44278552 | 44278552 | Missense_Mutation | G | A | p.R159C |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44278344 | 44278771 | 44278552 | 44278552 | Missense_Mutation | G | T | p.R159S |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44278344 | 44278771 | 44278563 | 44278563 | Missense_Mutation | G | A | p.A155V |
| OVK18_OVARY | 44278344 | 44278771 | 44278563 | 44278563 | Missense_Mutation | G | A | p.A155V |
| SNU1040_LARGE_INTESTINE | 44278344 | 44278771 | 44278614 | 44278614 | Missense_Mutation | G | A | p.P138L |
| MKN74_STOMACH | 44278344 | 44278771 | 44278735 | 44278735 | Missense_Mutation | C | A | p.V98L |
| MKN28_STOMACH | 44278344 | 44278771 | 44278735 | 44278735 | Missense_Mutation | C | A | p.V98L |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44278344 | 44278771 | 44278746 | 44278746 | Missense_Mutation | C | T | p.R94Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNN4 |
| 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 KCNN4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNN4 |
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RelatedDrugs for KCNN4 |
| 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 |
| O15554 | DB00468 | Quinine | Intermediate conductance calcium-activated potassium channel protein 4 | small molecule | approved | |
| O15554 | DB00228 | Enflurane | Intermediate conductance calcium-activated potassium channel protein 4 | small molecule | approved|investigational|vet_approved | |
| O15554 | DB01110 | Miconazole | Intermediate conductance calcium-activated potassium channel protein 4 | small molecule | approved|investigational|vet_approved | |
| O15554 | DB00257 | Clotrimazole | Intermediate conductance calcium-activated potassium channel protein 4 | small molecule | approved|vet_approved | |
| O15554 | DB01159 | Halothane | Intermediate conductance calcium-activated potassium channel protein 4 | small molecule | approved|vet_approved |
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RelatedDiseases for KCNN4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KCNN4 | C4225242 | DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 | 2 | UNIPROT |
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