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Fusion gene ID: 18282 |
FusionGeneSummary for KCNK1_CCDC64 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNK1_CCDC64 | Fusion gene ID: 18282 | Hgene | Tgene | Gene symbol | KCNK1 | CCDC64 | Gene ID | 3775 | 92558 |
| Gene name | potassium two pore domain channel subfamily K member 1 | BICD family like cargo adaptor 1 | |
| Synonyms | DPK|HOHO|K2P1|K2p1.1|KCNO1|TWIK-1|TWIK1 | BICDR-1|BICDR1|CCDC64|CCDC64A|H_267D11.1 | |
| Cytomap | 1q42.2 | 12q24.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | potassium channel subfamily K member 1inward rectifying potassium channel protein TWIK-1potassium channel K2P1potassium channel KCNO1potassium channel, two pore domain subfamily K, member 1potassium inwardly-rectifying channel, subfamily K, member 1 | BICD family-like cargo adapter 1BICD-related protein 1Bicaudal D related 1WUGSC:H_267D11.1bicaudal D-related protein 1coiled-coil domain containing 64coiled-coil domain-containing protein 64A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O00180 | ||
| Ensembl transtripts involved in fusion gene | ENST00000366621, ENST00000472190, ENST00000366620, | ENST00000397558, ENST00000446727, ENST00000257583, ENST00000546857, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: KCNK1 [Title/Abstract] AND CCDC64 [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 | KCNK1 | GO:0035725 | sodium ion transmembrane transport | 21653227 |
| Hgene | KCNK1 | GO:0071805 | potassium ion transmembrane transport | 21653227|22282804 |
| 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 | COAD | TCGA-AZ-6607-01A | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| * 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 | ENST00000366621 | ENST00000397558 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| Frame-shift | ENST00000366621 | ENST00000446727 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| 5CDS-intron | ENST00000366621 | ENST00000257583 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| 5CDS-intron | ENST00000366621 | ENST00000546857 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| intron-3CDS | ENST00000472190 | ENST00000397558 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| intron-3CDS | ENST00000472190 | ENST00000446727 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| intron-intron | ENST00000472190 | ENST00000257583 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| intron-intron | ENST00000472190 | ENST00000546857 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| intron-3CDS | ENST00000366620 | ENST00000397558 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| intron-3CDS | ENST00000366620 | ENST00000446727 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| intron-intron | ENST00000366620 | ENST00000257583 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
| intron-intron | ENST00000366620 | ENST00000546857 | KCNK1 | chr1 | 233750272 | + | CCDC64 | chr12 | 120509426 | + |
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FusionProtFeatures for KCNK1_CCDC64 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNK1 | CCDC64 |
| Ion channel that contributes to passive transmembranepotassium transport and to the regulation of the resting membranepotential in brain astrocytes, but also in kidney and in othertissues (PubMed:15820677, PubMed:21653227). Forms dimeric channelsthrough which potassium ions pass in accordance with theirelectrochemical gradient. The channel is selective for K(+) ionsat physiological potassium concentrations and at neutral pH, butbecomes permeable to Na(+) at subphysiological K(+) levels andupon acidification of the extracellular medium (PubMed:21653227,PubMed:22431633). The homodimer has very low potassium channelactivity, when expressed in heterologous systems, and can functionas weakly inward rectifying potassium channel (PubMed:8605869,PubMed:8978667, PubMed:15820677, PubMed:21653227, PubMed:22431633,PubMed:23169818, PubMed:25001086). Channel activity is modulatedby activation of serotonin receptors (By similarity).Heterodimeric channels containing KCNK1 and KCNK2 have much higheractivity, and may represent the predominant form in astrocytes (Bysimilarity). Heterodimeric channels containing KCNK1 and KCNK3 orKCNK9 have much higher activity (PubMed:23169818). Heterodimericchannels formed by KCNK1 and KCNK9 may contribute to halothane-sensitive currents (PubMed:23169818). Mediates outward rectifyingpotassium currents in dentate gyrus granule cells and contributesto the regulation of their resting membrane potential (Bysimilarity). Contributes to the regulation of action potentialfiring in dentate gyrus granule cells and down-regulates theirintrinsic excitability (By similarity). In astrocytes, theheterodimer formed by KCNK1 and KCNK2 is required for rapidglutamate release in response to activation of G-protein coupledreceptors, such as F2R and CNR1 (By similarity). Required fornormal ion and water transport in the kidney (By similarity).Contributes to the regulation of the resting membrane potential ofpancreatic beta cells (By similarity). The low channel activity ofhomodimeric KCNK1 may be due to sumoylation (PubMed:15820677,PubMed:20498050, PubMed:23169818). The low channel activity may bedue to rapid internalization from the cell membrane and retentionin recycling endosomes (PubMed:19959478).{ECO:0000250|UniProtKB:O08581, ECO:0000250|UniProtKB:Q9Z2T2,ECO:0000269|PubMed:15820677, ECO:0000269|PubMed:17693262,ECO:0000269|PubMed:19959478, ECO:0000269|PubMed:20498050,ECO:0000269|PubMed:21653227, ECO:0000269|PubMed:22282804,ECO:0000269|PubMed:22431633, ECO:0000269|PubMed:23169818,ECO:0000269|PubMed:25001086, ECO:0000269|PubMed:8605869,ECO:0000269|PubMed:8978667}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 KCNK1_CCDC64 |
| 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 KCNK1_CCDC64 |
| 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 |
| KCNK1 | KCNK1, ELAVL1, TCIRG1, KRTAP10-3, CREB3, LMNA | CCDC64 | HSPB1 |
| - 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 KCNK1_CCDC64 |
| 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 | KCNK1 | O00180 | DB00308 | Ibutilide | Potassium channel subfamily K member 1 | small molecule | approved |
| Hgene | KCNK1 | O00180 | DB00908 | Quinidine | Potassium channel subfamily K member 1 | small molecule | approved|investigational |
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RelatedDiseases for KCNK1_CCDC64 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KCNK1 | C0020507 | Hyperplasia | 1 | CTD_human |
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