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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 KCNMB3 |
 Gene summary |
| Gene information | Gene symbol | KCNMB3 | Gene ID | 27094 |
| Gene name | potassium calcium-activated channel subfamily M regulatory beta subunit 3 | |
| Synonyms | BKBETA3|HBETA3|K(VCA)BETA-3|KCNMB2|KCNMBL|SLO-BETA-3|SLOBETA3 | |
| Cytomap | 3q26.32 | |
| Type of gene | protein-coding | |
| Description | calcium-activated potassium channel subunit beta-3BK channel beta subunit 3BK channel subunit beta-3MaxiK channel beta-subunit 3big potassium channel beta subunit 3calcium-activated potassium channel regulatory subunitcalcium-activated potassium cha | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NPA1 | |
| Context | PubMed: KCNMB3 [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 |
| KCNMB3 | GO:0001508 | action potential | 10692449 |
| KCNMB3 | GO:0005513 | detection of calcium ion | 10692449 |
| KCNMB3 | GO:0006813 | potassium ion transport | 10692449 |
| KCNMB3 | GO:0019228 | neuronal action potential | 10692449 |
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Exon skipping events across known transcript of Ensembl for KCNMB3 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 KCNMB3 |
| 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 KCNMB3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390226 | 3 | 178957608:178957852:178960596:178961072:178962282:178962481 | 178960596:178961072 | ENSG00000171121.12 | ENST00000392686.2 |
| exon_skip_390232 | 3 | 178962282:178962481:178968530:178968722:178976735:178976996 | 178968530:178968722 | ENSG00000171121.12 | ENST00000392686.2,ENST00000485523.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KCNMB3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390226 | 3 | 178957608:178957852:178960596:178961072:178962282:178962481 | 178960596:178961072 | ENSG00000171121.12 | ENST00000392686.2 |
| exon_skip_390232 | 3 | 178962282:178962481:178968530:178968722:178976735:178976996 | 178968530:178968722 | ENSG00000171121.12 | ENST00000392686.2,ENST00000485523.1 |
| 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 KCNMB3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for KCNMB3 |
| 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 KCNMB3 |
| - 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 |
| DLBC | TCGA-GS-A9TX-01 | exon_skip_390226 | 178960597 | 178961072 | 178960904 | 178960904 | Frame_Shift_Del | T | - | p.I210fs |
| STAD | TCGA-CG-5733-01 | exon_skip_390226 | 178960597 | 178961072 | 178960921 | 178960921 | Frame_Shift_Del | T | - | p.K204fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_390232 | 178968531 | 178968722 | 178968599 | 178968599 | Frame_Shift_Del | G | - | p.A60fs |
| HNSC | TCGA-CV-A461-01 | exon_skip_390232 | 178968531 | 178968722 | 178968722 | 178968722 | Frame_Shift_Del | C | - | p.R19fs |
| STAD | TCGA-CD-8536-01 | exon_skip_390226 | 178960597 | 178961072 | 178960920 | 178960921 | Frame_Shift_Ins | - | T | p.K204fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_390226 | 178960597 | 178961072 | 178960976 | 178960977 | Frame_Shift_Ins | - | G | p.PF181fs |
| BLCA | TCGA-KQ-A41N-01 | exon_skip_390232 | 178968531 | 178968722 | 178968691 | 178968691 | Nonsense_Mutation | C | A | p.E30* |
| - 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 |
| NCIH508_LARGE_INTESTINE | 178960597 | 178961072 | 178960920 | 178960921 | Frame_Shift_Ins | - | T | p.K204fs |
| MEL202_EYE | 178960597 | 178961072 | 178960740 | 178960740 | Missense_Mutation | G | T | p.F264L |
| HCC4006_LUNG | 178960597 | 178961072 | 178960755 | 178960755 | Missense_Mutation | T | C | p.I259M |
| MFE319_ENDOMETRIUM | 178960597 | 178961072 | 178960775 | 178960775 | Missense_Mutation | C | T | p.G253S |
| HT115_LARGE_INTESTINE | 178960597 | 178961072 | 178960922 | 178960922 | Missense_Mutation | T | G | p.K204Q |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 178968531 | 178968722 | 178968572 | 178968572 | Missense_Mutation | G | C | p.F73L |
| HCC1569_BREAST | 178968531 | 178968722 | 178968604 | 178968604 | Missense_Mutation | A | G | p.F63L |
| HEC251_ENDOMETRIUM | 178960597 | 178961072 | 178961006 | 178961006 | Nonsense_Mutation | C | A | p.E176* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNMB3 |
| 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 |
| exon_skip_390226 | 3 | 178957608:178957852:178960596:178961072:178962282:178962481 | 178960596:178961072 | ENST00000392686.2 | BLCA | rs1059691 | chr3:178960607 | A/G | 9.25e-04 |
| exon_skip_390226 | 3 | 178957608:178957852:178960596:178961072:178962282:178962481 | 178960596:178961072 | ENST00000392686.2 | KIRC | rs1059691 | chr3:178960607 | A/G | 1.37e-05 |
| exon_skip_390226 | 3 | 178957608:178957852:178960596:178961072:178962282:178962481 | 178960596:178961072 | ENST00000392686.2 | KIRC | rs143962239 | chr3:178960766 | CT/C | 2.62e-03 |
| exon_skip_390226 | 3 | 178957608:178957852:178960596:178961072:178962282:178962481 | 178960596:178961072 | ENST00000392686.2 | PRAD | rs143962239 | chr3:178960766 | CT/C | 1.45e-04 |
| exon_skip_390226 | 3 | 178957608:178957852:178960596:178961072:178962282:178962481 | 178960596:178961072 | ENST00000392686.2 | PRAD | rs143962239 | chr3:178960766 | CT/C | 2.79e-04 |
| exon_skip_390232 | 3 | 178962282:178962481:178968530:178968722:178976735:178976996 | 178968530:178968722 | ENST00000392686.2,ENST00000485523.1 | PRAD | rs1170672 | chr3:178968660 | C/T | 1.69e-04 |
| exon_skip_390232 | 3 | 178962282:178962481:178968530:178968722:178976735:178976996 | 178968530:178968722 | ENST00000392686.2,ENST00000485523.1 | PRAD | rs1170672 | chr3:178968660 | C/T | 1.43e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNMB3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNMB3 |
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RelatedDrugs for KCNMB3 |
| 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 |
| Q9NPA1 | DB01110 | Miconazole | Calcium-activated potassium channel subunit beta-3 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for KCNMB3 |
| 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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