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Fusion gene ID: 18251 |
FusionGeneSummary for KCNE2_HTN3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNE2_HTN3 | Fusion gene ID: 18251 | Hgene | Tgene | Gene symbol | KCNE2 | HTN3 | Gene ID | 9992 | 3347 |
| Gene name | potassium voltage-gated channel subfamily E regulatory subunit 2 | histatin 3 | |
| Synonyms | ATFB4|LQT5|LQT6|MIRP1 | HIS2|HTN2|HTN5 | |
| Cytomap | 21q22.11 | 4q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | potassium voltage-gated channel subfamily E member 2cardiac voltage-gated potassium channel accessory subunit 2minK-related peptide-1minimum potassium ion channel-related peptide 1potassium channel subunit beta MiRP1potassium channel subunit, MiRP1p | histatin-3PBbasic histidine-rich proteinhistatin-4histatin-5histatin-6histatin-7histatin-8histatin-9histidine-rich protein 3hst | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q9Y6J6 | P15516 | |
| Ensembl transtripts involved in fusion gene | ENST00000290310, | ENST00000526767, ENST00000530128, ENST00000381057, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 4 X 2=32 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KCNE2 [Title/Abstract] AND HTN3 [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 | KCNE2 | GO:0035690 | cellular response to drug | 10219239 |
| Hgene | KCNE2 | GO:0060306 | regulation of membrane repolarization | 10219239 |
| Hgene | KCNE2 | GO:0071435 | potassium ion export | 10219239 |
| Hgene | KCNE2 | GO:0071805 | potassium ion transmembrane transport | 10219239 |
| Hgene | KCNE2 | GO:0086009 | membrane repolarization | 10219239 |
| Hgene | KCNE2 | GO:1901379 | regulation of potassium ion transmembrane transport | 10219239 |
| Hgene | KCNE2 | GO:1901800 | positive regulation of proteasomal protein catabolic process | 22180649 |
| Hgene | KCNE2 | GO:1901979 | regulation of inward rectifier potassium channel activity | 10219239 |
| Hgene | KCNE2 | GO:1902259 | regulation of delayed rectifier potassium channel activity | 10219239 |
| Hgene | KCNE2 | GO:1902260 | negative regulation of delayed rectifier potassium channel activity | 19219384 |
| 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-A8-A06U-01A | KCNE2 | chr21 | 35736450 | + | HTN3 | chr4 | 70898884 | + |
| * 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 |
| 5UTR-3CDS | ENST00000290310 | ENST00000526767 | KCNE2 | chr21 | 35736450 | + | HTN3 | chr4 | 70898884 | + |
| 5UTR-3CDS | ENST00000290310 | ENST00000530128 | KCNE2 | chr21 | 35736450 | + | HTN3 | chr4 | 70898884 | + |
| 5UTR-3CDS | ENST00000290310 | ENST00000381057 | KCNE2 | chr21 | 35736450 | + | HTN3 | chr4 | 70898884 | + |
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FusionProtFeatures for KCNE2_HTN3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNE2 | HTN3 |
| Ancillary protein that assembles as a beta subunit witha voltage-gated potassium channel complex of pore-forming alphasubunits. Modulates the gating kinetics and enhances stability ofthe channel complex. Assembled with KCNB1 modulates the gatingcharacteristics of the delayed rectifier voltage-dependentpotassium channel KCNB1. Associated with KCNH2/HERG is proposed toform the rapidly activating component of the delayed rectifyingpotassium current in heart (IKr). May associate with KCNQ2 and/orKCNQ3 and modulate the native M-type current. May associate withHCN1 and HCN2 and increase potassium current. Interacts withKCNQ1; forms a heterooligomer complex leading to currents with anapparently instantaneous activation, a rapid deactivation processand a linear current-voltage relationship and decreases theamplitude of the outward current (PubMed:11101505).{ECO:0000250|UniProtKB:P63161, ECO:0000269|PubMed:10219239,ECO:0000269|PubMed:11101505}. | Histatins are salivary proteins that are considered tobe major precursors of the protective proteinaceous structure ontooth surfaces (enamel pellicle). In addition, histatins exhibitantibacterial and antifungal activities. His3-(20-43)-peptide(histatin-5) is especially effective against C.albicans andC.neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB)from P.gingivalis. In addition, His3-(20-43)-peptide is a potentinhibitor of metalloproteinases MMP2 and MMP9.{ECO:0000269|PubMed:11179305, ECO:0000269|PubMed:8945538}. |
| 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 KCNE2_HTN3 |
| 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 KCNE2_HTN3 |
| 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 |
| KCNE2 | KCNQ1, ATP4A, CACNA1C | HTN3 | HSPA8 |
| - 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 KCNE2_HTN3 |
| 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 |
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RelatedDiseases for KCNE2_HTN3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KCNE2 | C3150953 | Long Qt Syndrome 6 | 4 | CTD_human;UNIPROT |
| Hgene | KCNE2 | C0023976 | Long QT Syndrome | 3 | CTD_human |
| Hgene | KCNE2 | C0004238 | Atrial Fibrillation | 1 | CTD_human;HPO |
| Hgene | KCNE2 | C0042510 | Ventricular Fibrillation | 1 | CTD_human;HPO |
| Hgene | KCNE2 | C1862394 | Atrial Fibrillation, Familial, 4 | 1 | CTD_human;UNIPROT |
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