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Fusion gene ID: 28639 |
FusionGeneSummary for PREX1_KCNB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PREX1_KCNB1 | Fusion gene ID: 28639 | Hgene | Tgene | Gene symbol | PREX1 | KCNB1 | Gene ID | 57580 | 3745 |
| Gene name | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 | potassium voltage-gated channel subfamily B member 1 | |
| Synonyms | P-REX1 | DRK1|Kv2.1 | |
| Cytomap | 20q13.13 | 20q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 proteinPIP3 dependent Rac exchange factor 1ptdIns(3,4,5)-dependent Rac exchanger 1 | potassium voltage-gated channel subfamily B member 1delayed rectifier potassium channel 1potassium voltage-gated channel, Shab-related subfamily, member 1voltage-gated potassium channel subunit Kv2.1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8TCU6 | Q14721 | |
| Ensembl transtripts involved in fusion gene | ENST00000371941, ENST00000396220, ENST00000496915, | ENST00000371741, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 5 X 2 X 5=50 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
| Context | PubMed: PREX1 [Title/Abstract] AND KCNB1 [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 | KCNB1 | GO:0001508 | action potential | 19223394 |
| Tgene | KCNB1 | GO:0071805 | potassium ion transmembrane transport | 19074135|19223394 |
| Tgene | KCNB1 | GO:0090314 | positive regulation of protein targeting to membrane | 19074135 |
| 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 | LD | UCS | TCGA-N8-A4PM-01A | PREX1 | chr20 | 47361562 | - | KCNB1 | chr20 | 47927336 | - |
| * 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-intron | ENST00000371941 | ENST00000371741 | PREX1 | chr20 | 47361562 | - | KCNB1 | chr20 | 47927336 | - |
| 5CDS-intron | ENST00000396220 | ENST00000371741 | PREX1 | chr20 | 47361562 | - | KCNB1 | chr20 | 47927336 | - |
| intron-intron | ENST00000496915 | ENST00000371741 | PREX1 | chr20 | 47361562 | - | KCNB1 | chr20 | 47927336 | - |
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FusionProtFeatures for PREX1_KCNB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PREX1 | KCNB1 |
| Voltage-gated potassium channel that mediatestransmembrane potassium transport in excitable membranes,primarily in the brain, but also in the pancreas andcardiovascular system. Contributes to the regulation of the actionpotential (AP) repolarization, duration and frequency ofrepetitive AP firing in neurons, muscle cells and endocrine cellsand plays a role in homeostatic attenuation of electricalexcitability throughout the brain (PubMed:23161216). Plays also arole in the regulation of exocytosis independently of itselectrical function (By similarity). Forms tetrameric potassium-selective channels through which potassium ions pass in accordancewith their electrochemical gradient. The channel alternatesbetween opened and closed conformations in response to the voltagedifference across the membrane. Homotetrameric channels mediate adelayed-rectifier voltage-dependent outward potassium current thatdisplay rapid activation and slow inactivation in response tomembrane depolarization (PubMed:8081723, PubMed:1283219,PubMed:10484328, PubMed:12560340, PubMed:19074135,PubMed:19717558, PubMed:24901643). Can form functionalhomotetrameric and heterotetrameric channels that contain variableproportions of KCNB2; channel properties depend on the type ofalpha subunits that are part of the channel (By similarity). Canalso form functional heterotetrameric channels with other alphasubunits that are non-conducting when expressed alone, such asKCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 andKCNV1, creating a functionally diverse range of channel complexes(PubMed:10484328, PubMed:11852086, PubMed:12060745,PubMed:19074135, PubMed:19717558, PubMed:24901643).Heterotetrameric channel activity formed with KCNS3 show increasedcurrent amplitude with the threshold for action potentialactivation shifted towards more negative values in hypoxic-treatedpulmonary artery smooth muscle cells (By similarity). Channelproperties are also modulated by cytoplasmic ancillary betasubunits such as AMIGO1, KCNE1, KCNE2 and KCNE3, slowingactivation and inactivation rate of the delayed rectifierpotassium channels (By similarity). In vivo, membranes probablycontain a mixture of heteromeric potassium channel complexes,making it difficult to assign currents observed in intact tissuesto any particular potassium channel family member. Majorcontributor to the slowly inactivating delayed-rectifier voltage-gated potassium current in neurons of the central nervous system,sympathetic ganglion neurons, neuroendocrine cells, pancreaticbeta cells, cardiomyocytes and smooth muscle cells. Mediates themajor part of the somatodendritic delayed-rectifier potassiumcurrent in hippocampal and cortical pyramidal neurons andsympathetic superior cervical ganglion (CGC) neurons that acts toslow down periods of firing, especially during high frequencystimulation. Plays a role in the induction of long-termpotentiation (LTP) of neuron excitability in the CA3 layer of thehippocampus (By similarity). Contributes to the regulation ofglucose-induced action potential amplitude and duration inpancreatic beta cells, hence limiting calcium influx and insulinsecretion (PubMed:23161216). Plays a role in the regulation ofresting membrane potential and contraction in hypoxia-treatedpulmonary artery smooth muscle cells. May contribute to theregulation of the duration of both the action potential ofcardiomyocytes and the heart ventricular repolarization QTinterval. Contributes to the pronounced pro-apoptotic potassiumcurrent surge during neuronal apoptotic cell death in response tooxidative injury. May confer neuroprotection in response tohypoxia/ischemic insults by suppressing pyramidal neuronshyperexcitability in hippocampal and cortical regions (Bysimilarity). Promotes trafficking of KCNG3, KCNH1 and KCNH2 to thecell surface membrane, presumably by forming heterotetramericchannels with these subunits (PubMed:12060745). Plays a role inthe calcium-dependent recruitment and release of fusion-competentvesicles from the soma of neurons, neuroendocrine and glucose-induced pancreatic beta cells by binding key components of thefusion machinery in a pore-independent manner (By similarity).{ECO:0000250|UniProtKB:P15387, ECO:0000250|UniProtKB:Q03717,ECO:0000269|PubMed:10484328, ECO:0000269|PubMed:11852086,ECO:0000269|PubMed:12060745, ECO:0000269|PubMed:12560340,ECO:0000269|PubMed:1283219, ECO:0000269|PubMed:19074135,ECO:0000269|PubMed:19717558, ECO:0000269|PubMed:23161216,ECO:0000269|PubMed:24901643, ECO:0000269|PubMed:8081723}. |
| 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 PREX1_KCNB1 |
| 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 PREX1_KCNB1 |
| 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 |
| PREX1 | BZW1, PPP1CA, ITSN1, MTOR, RPTOR, RICTOR, AKT1, KRAS, NRAS | KCNB1 | KCNG2, PTPRE, KCNB1, KCNG3, KCNH1, KCNV2, SNAP25, KCNS3, NEDD4L, SRC, KCNG1, KCNV1, KCNB2, KCNG4, STX1A, CALM1, KCNE1L |
| - 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 PREX1_KCNB1 |
| 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 | KCNB1 | Q14721 | DB06637 | Dalfampridine | Potassium voltage-gated channel subfamily B member 1 {ECO:0000312|HGNC:HGNC:6231} | small molecule | approved |
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RelatedDiseases for PREX1_KCNB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KCNB1 | C4015119 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 | 3 | UNIPROT |
| Tgene | KCNB1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
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