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Fusion gene ID: 18335 |
FusionGeneSummary for KCNQ3_EVI5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNQ3_EVI5 | Fusion gene ID: 18335 | Hgene | Tgene | Gene symbol | KCNQ3 | EVI5 | Gene ID | 3786 | 7813 |
| Gene name | potassium voltage-gated channel subfamily Q member 3 | ecotropic viral integration site 5 | |
| Synonyms | BFNC2|EBN2|KV7.3 | EVI-5|NB4S | |
| Cytomap | 8q24.22 | 1p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | potassium voltage-gated channel subfamily KQT member 3potassium channel subunit alpha KvLQT3potassium channel, voltage gated KQT-like subfamily Q, member 3potassium channel, voltage-gated, subfamily Q, member 3potassium voltage-gated channel, KQT-like | ecotropic viral integration site 5 protein homologdJ846D11.1 (ecotropic viral integration site 5)neuroblastoma stage 4S gene protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O43525 | O60447 | |
| Ensembl transtripts involved in fusion gene | ENST00000388996, ENST00000521134, ENST00000519445, | ENST00000370331, ENST00000540033, ENST00000543509, ENST00000491940, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 4 X 4 X 3=48 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KCNQ3 [Title/Abstract] AND EVI5 [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 | KCNQ3 | GO:0071805 | potassium ion transmembrane transport | 11159685|27564677 |
| Tgene | EVI5 | GO:0043547 | positive regulation of GTPase activity | 17562788 |
| 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 |
| ChiTaRS3.1 | BF592861 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + | ||
| ChiTaRS3.1 | BF509246 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| * 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 |
| intron-intron | ENST00000388996 | ENST00000370331 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000388996 | ENST00000540033 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000388996 | ENST00000543509 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000388996 | ENST00000491940 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000521134 | ENST00000370331 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000521134 | ENST00000540033 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000521134 | ENST00000543509 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000521134 | ENST00000491940 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000519445 | ENST00000370331 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000519445 | ENST00000540033 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000519445 | ENST00000543509 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
| intron-intron | ENST00000519445 | ENST00000491940 | KCNQ3 | chr8 | 133133675 | + | EVI5 | chr1 | 93112734 | + |
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FusionProtFeatures for KCNQ3_EVI5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNQ3 | EVI5 |
| Associates with KCNQ2 or KCNQ5 to form a potassiumchannel with essentially identical properties to the channelunderlying the native M-current, a slowly activating anddeactivating potassium conductance which plays a critical role indetermining the subthreshold electrical excitability of neurons aswell as the responsiveness to synaptic inputs. Therefore, it isimportant in the regulation of neuronal excitability.{ECO:0000269|PubMed:11159685, ECO:0000269|PubMed:14534157,ECO:0000269|PubMed:16319223, ECO:0000269|PubMed:9872318}. | Functions as a regulator of cell cycle progression bystabilizing the FBXO5 protein and promoting cyclin-A accumulationduring interphase. May play a role in cytokinesis.{ECO:0000269|PubMed:16439210}. |
| 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 KCNQ3_EVI5 |
| 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 KCNQ3_EVI5 |
| 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 |
| - 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 KCNQ3_EVI5 |
| 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 | KCNQ3 | O43525 | DB00321 | Amitriptyline | Potassium voltage-gated channel subfamily KQT member 3 {ECO:0000305} | small molecule | approved |
| Hgene | KCNQ3 | O43525 | DB04953 | Ezogabine | Potassium voltage-gated channel subfamily KQT member 3 {ECO:0000305} | small molecule | approved|investigational |
| Hgene | KCNQ3 | O43525 | DB00586 | Diclofenac | Potassium voltage-gated channel subfamily KQT member 3 {ECO:0000305} | small molecule | approved|vet_approved |
| Hgene | KCNQ3 | O43525 | DB00939 | Meclofenamic acid | Potassium voltage-gated channel subfamily KQT member 3 {ECO:0000305} | small molecule | approved|vet_approved |
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RelatedDiseases for KCNQ3_EVI5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KCNQ3 | C1852581 | EPILEPSY, BENIGN NEONATAL, 2 | 2 | CTD_human;UNIPROT |
| Hgene | KCNQ3 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | KCNQ3 | C0036341 | Schizophrenia | 1 | PSYGENET |
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