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Fusion gene ID: 18292 |
FusionGeneSummary for KCNMA1_ECD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNMA1_ECD | Fusion gene ID: 18292 | Hgene | Tgene | Gene symbol | KCNMA1 | ECD | Gene ID | 3778 | 11319 |
| Gene name | potassium calcium-activated channel subfamily M alpha 1 | ecdysoneless cell cycle regulator | |
| Synonyms | BKTM|CADEDS|KCa1.1|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1 | GCR2|HSGT1|SGT1 | |
| Cytomap | 10q22.3 | 10q22.2 | |
| Type of gene | protein-coding | 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 | protein ecdysoneless homologecdysoneless homologhuman suppressor of GCR twoprotein SGT1suppressor of GCR2suppressor of S. cerevisiae gcr2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q12791 | O95905 | |
| Ensembl transtripts involved in fusion gene | ENST00000404771, ENST00000372440, ENST00000372443, ENST00000286628, ENST00000286627, ENST00000354353, ENST00000404857, ENST00000406533, ENST00000484507, ENST00000481070, ENST00000480683, | ENST00000372979, ENST00000454759, ENST00000430082, ENST00000610256, | |
| Fusion gene scores | * DoF score | 15 X 12 X 8=1440 | 2 X 2 X 2=8 |
| # samples | 17 | 2 | |
| ** MAII score | log2(17/1440*10)=-3.08246216019197 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: KCNMA1 [Title/Abstract] AND ECD [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | KCNMA1 | GO:0001666 | response to hypoxia | 15528406 |
| Hgene | KCNMA1 | GO:0006813 | potassium ion transport | 7573516|7877450|11245614|12388065|17706472|18458941 |
| Hgene | KCNMA1 | GO:0006970 | response to osmotic stress | 10840032|12388065 |
| Hgene | KCNMA1 | GO:0030007 | cellular potassium ion homeostasis | 11245614 |
| Hgene | KCNMA1 | GO:0034465 | response to carbon monoxide | 15528406 |
| Hgene | KCNMA1 | GO:0042391 | regulation of membrane potential | 7877450|7993625 |
| Hgene | KCNMA1 | GO:0045794 | negative regulation of cell volume | 12388065 |
| Hgene | KCNMA1 | GO:0051592 | response to calcium ion | 12388065|18458941 |
| Hgene | KCNMA1 | GO:0060073 | micturition | 11641143 |
| Hgene | KCNMA1 | GO:0060083 | smooth muscle contraction involved in micturition | 11641143 |
| Tgene | ECD | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19919181 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-EW-A1OV-01A | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-5UTR | ENST00000404771 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000404771 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000404771 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000404771 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000372440 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000372440 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000372440 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000372440 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000372443 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000372443 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000372443 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000372443 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000286628 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000286628 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000286628 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000286628 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000286627 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000286627 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000286627 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000286627 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000354353 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000354353 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000354353 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000354353 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000404857 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000404857 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000404857 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000404857 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000406533 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000406533 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000406533 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| 5CDS-5UTR | ENST00000406533 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000484507 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000484507 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000484507 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000484507 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000481070 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000481070 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000481070 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000481070 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000480683 | ENST00000372979 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000480683 | ENST00000454759 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000480683 | ENST00000430082 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
| intron-5UTR | ENST00000480683 | ENST00000610256 | KCNMA1 | chr10 | 78943179 | - | ECD | chr10 | 74923708 | - |
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FusionProtFeatures for KCNMA1_ECD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNMA1 | ECD |
| Regulator of p53/TP53 stability and function. InhibitsMDM2-mediated degradation of p53/TP53 possibly by cooperating inpart with TXNIP (PubMed:16849563, PubMed:23880345). May beinvolved transcriptional regulation. In vitro has intrinsictransactivation activity enhanced by EP300. May be atranscriptional activator required for the expression ofglycolytic genes (PubMed:19919181, PubMed:9928932). Involved inregulation of cell cycle progression. Proposed to disrupt Rb-E2Fbinding leading to transcriptional activation of E2F proteins(PubMed:19640839). The cell cycle -regulating function may dependon its RUVBL1-mediated association with the R2TP complex(PubMed:26711270). May play a role in regulation of pre-mRNAsplicing (PubMed:24722212). {ECO:0000269|PubMed:16849563,ECO:0000269|PubMed:19640839, ECO:0000269|PubMed:19919181,ECO:0000269|PubMed:23880345, ECO:0000269|PubMed:26711270,ECO:0000305|PubMed:24722212, ECO:0000305|PubMed:9928932}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for KCNMA1_ECD |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for KCNMA1_ECD |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| KCNMA1 | ALB, CAV1, CAV2, CAV3, ACTA2, ACTG2, TBXA2R, KCNMA1, KCNMB1, EED, PTPRA | ECD | NR3C1, EWSR1, PSEN2, PRPF8, PSMD1, PSMC5, PSMD2, PSMC3, TXNIP, TP53, GCFC2, VTI1B, TSSC4, EAPP, SNRNP40, PNKD, AAR2, PTGER3, LIPH, MED4, AHI1, KIAA0753, CEP128, CEP44, CEP63, NPHP1, CEP19, POC1A, RPGRIP1, XPO1, GRIA2, PDK3, MED12, ANAPC15, PIH1D1, CSNK2A1, RUVBL1, TTC27, MYH7, KIAA1143, GPBP1L1, WDR83, GPR156, SNRNP200, ZNHIT2, LYPD4, NCDN, CD2BP2, ECD, EFTUD2, NONO, PARP1, POLR1A, PRPF19, SART3, SLC7A6OS, WDR92 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for KCNMA1_ECD |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | KCNMA1 | Q12791 | DB00356 | Chlorzoxazone | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Hgene | KCNMA1 | Q12791 | DB00436 | Bendroflumethiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Hgene | KCNMA1 | Q12791 | DB01003 | Cromoglicic acid | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Hgene | KCNMA1 | Q12791 | DB01119 | Diazoxide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Hgene | KCNMA1 | Q12791 | DB09089 | Trimebutine | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Hgene | KCNMA1 | Q12791 | DB00774 | Hydroflumethiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational |
| Hgene | KCNMA1 | Q12791 | DB04209 | Dequalinium | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational |
| Hgene | KCNMA1 | Q12791 | DB00721 | Procaine | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational|vet_approved |
| Hgene | KCNMA1 | Q12791 | DB01110 | Miconazole | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational|vet_approved |
| Hgene | KCNMA1 | Q12791 | DB00999 | Hydrochlorothiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|vet_approved |
| Hgene | KCNMA1 | Q12791 | DB01159 | Halothane | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|vet_approved |
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RelatedDiseases for KCNMA1_ECD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KCNMA1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | KCNMA1 | C0005944 | Metabolic Bone Disorder | 1 | CTD_human |
| Hgene | KCNMA1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | KCNMA1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Hgene | KCNMA1 | C0028756 | Obesity, Morbid | 1 | CTD_human |
| Hgene | KCNMA1 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | KCNMA1 | C1836173 | Generalized Epilepsy and Paroxysmal Dyskinesia | 1 | CTD_human;ORPHANET;UNIPROT |
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