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Fusion gene ID: 8252 |
FusionGeneSummary for CPM_KCNMA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CPM_KCNMA1 | Fusion gene ID: 8252 | Hgene | Tgene | Gene symbol | CPM | KCNMA1 | Gene ID | 1368 | 3778 |
| Gene name | carboxypeptidase M | 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 | 12q15 | 10q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | carboxypeptidase Mrenal carboxypeptidaseurinary carboxypeptidase B | 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 | 20180523 | |
| UniProtAcc | P14384 | Q12791 | |
| Ensembl transtripts involved in fusion gene | ENST00000546373, ENST00000551568, ENST00000338356, ENST00000549691, | ENST00000404771, ENST00000372440, ENST00000372443, ENST00000286628, ENST00000286627, ENST00000354353, ENST00000404857, ENST00000406533, ENST00000484507, ENST00000481070, ENST00000480683, | |
| Fusion gene scores | * DoF score | 12 X 5 X 6=360 | 11 X 10 X 6=660 |
| # samples | 12 | 13 | |
| ** MAII score | log2(12/360*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/660*10)=-2.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CPM [Title/Abstract] AND KCNMA1 [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 |
| Tgene | KCNMA1 | GO:0001666 | response to hypoxia | 15528406 |
| Tgene | KCNMA1 | GO:0006813 | potassium ion transport | 7573516|7877450|11245614|12388065|17706472|18458941 |
| Tgene | KCNMA1 | GO:0006970 | response to osmotic stress | 10840032|12388065 |
| Tgene | KCNMA1 | GO:0030007 | cellular potassium ion homeostasis | 11245614 |
| Tgene | KCNMA1 | GO:0034465 | response to carbon monoxide | 15528406 |
| Tgene | KCNMA1 | GO:0042391 | regulation of membrane potential | 7877450|7993625 |
| Tgene | KCNMA1 | GO:0045794 | negative regulation of cell volume | 12388065 |
| Tgene | KCNMA1 | GO:0051592 | response to calcium ion | 12388065|18458941 |
| Tgene | KCNMA1 | GO:0060073 | micturition | 11641143 |
| Tgene | KCNMA1 | GO:0060083 | smooth muscle contraction involved in micturition | 11641143 |
| 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-E2-A10C-01A | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| * 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 |
| Frame-shift | ENST00000546373 | ENST00000404771 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000546373 | ENST00000372440 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000546373 | ENST00000372443 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000546373 | ENST00000286628 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000546373 | ENST00000286627 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000546373 | ENST00000354353 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000546373 | ENST00000404857 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000546373 | ENST00000406533 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000546373 | ENST00000484507 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000546373 | ENST00000481070 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000546373 | ENST00000480683 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000551568 | ENST00000404771 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000551568 | ENST00000372440 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000551568 | ENST00000372443 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000551568 | ENST00000286628 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000551568 | ENST00000286627 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000551568 | ENST00000354353 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000551568 | ENST00000404857 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000551568 | ENST00000406533 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000551568 | ENST00000484507 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000551568 | ENST00000481070 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000551568 | ENST00000480683 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000338356 | ENST00000404771 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000338356 | ENST00000372440 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000338356 | ENST00000372443 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000338356 | ENST00000286628 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000338356 | ENST00000286627 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000338356 | ENST00000354353 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000338356 | ENST00000404857 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| Frame-shift | ENST00000338356 | ENST00000406533 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000338356 | ENST00000484507 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000338356 | ENST00000481070 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| 5CDS-intron | ENST00000338356 | ENST00000480683 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-3CDS | ENST00000549691 | ENST00000404771 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-3CDS | ENST00000549691 | ENST00000372440 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-3CDS | ENST00000549691 | ENST00000372443 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-3CDS | ENST00000549691 | ENST00000286628 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-3CDS | ENST00000549691 | ENST00000286627 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-3CDS | ENST00000549691 | ENST00000354353 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-3CDS | ENST00000549691 | ENST00000404857 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-3CDS | ENST00000549691 | ENST00000406533 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-intron | ENST00000549691 | ENST00000484507 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-intron | ENST00000549691 | ENST00000481070 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
| intron-intron | ENST00000549691 | ENST00000480683 | CPM | chr12 | 69326458 | - | KCNMA1 | chr10 | 78669854 | - |
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FusionProtFeatures for CPM_KCNMA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CPM | KCNMA1 |
| Specifically removes C-terminal basic residues (Arg orLys) from peptides and proteins. It is believed to play importantroles in the control of peptide hormone and growth factor activityat the cell surface, and in the membrane-localized degradation ofextracellular proteins. {ECO:0000269|PubMed:12457462}. |
| 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 CPM_KCNMA1 |
| 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 CPM_KCNMA1 |
| 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 |
| CPM | ELAVL1, CAPZA2, DBN1, FLNA, GAK, MYH9, PPP1CC, RAB7A, PDLIM7, ATP6AP2, SYNPO, MAPRE1, GOLT1B, LIMA1, ANLN, MYO19, ZSCAN12, ULBP1, FTH1, TBC1D22B, GTPBP3 | KCNMA1 | ALB, CAV1, CAV2, CAV3, ACTA2, ACTG2, TBXA2R, KCNMA1, KCNMB1, EED, PTPRA |
| - 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 CPM_KCNMA1 |
| 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 |
| Tgene | KCNMA1 | Q12791 | DB00356 | Chlorzoxazone | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Tgene | KCNMA1 | Q12791 | DB00436 | Bendroflumethiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Tgene | KCNMA1 | Q12791 | DB01003 | Cromoglicic acid | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Tgene | KCNMA1 | Q12791 | DB01119 | Diazoxide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Tgene | KCNMA1 | Q12791 | DB09089 | Trimebutine | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved |
| Tgene | KCNMA1 | Q12791 | DB00774 | Hydroflumethiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational |
| Tgene | KCNMA1 | Q12791 | DB04209 | Dequalinium | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational |
| Tgene | KCNMA1 | Q12791 | DB00721 | Procaine | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational|vet_approved |
| Tgene | KCNMA1 | Q12791 | DB01110 | Miconazole | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|investigational|vet_approved |
| Tgene | KCNMA1 | Q12791 | DB00999 | Hydrochlorothiazide | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|vet_approved |
| Tgene | KCNMA1 | Q12791 | DB01159 | Halothane | Calcium-activated potassium channel subunit alpha-1 | small molecule | approved|vet_approved |
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RelatedDiseases for CPM_KCNMA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CPM | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | CPM | C0037116 | Silicosis | 1 | CTD_human |
| Tgene | KCNMA1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | KCNMA1 | C0005944 | Metabolic Bone Disorder | 1 | CTD_human |
| Tgene | KCNMA1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | KCNMA1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Tgene | KCNMA1 | C0028756 | Obesity, Morbid | 1 | CTD_human |
| Tgene | KCNMA1 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | KCNMA1 | C1836173 | Generalized Epilepsy and Paroxysmal Dyskinesia | 1 | CTD_human;ORPHANET;UNIPROT |
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