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Fusion gene ID: 18252 |
FusionGeneSummary for KCNE3_PSME1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNE3_PSME1 | Fusion gene ID: 18252 | Hgene | Tgene | Gene symbol | KCNE3 | PSME1 | Gene ID | 10008 | 5720 |
| Gene name | potassium voltage-gated channel subfamily E regulatory subunit 3 | proteasome activator subunit 1 | |
| Synonyms | HOKPP|HYPP|MiRP2 | HEL-S-129m|IFI5111|PA28A|PA28alpha|REGalpha | |
| Cytomap | 11q13.4 | 14q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | potassium voltage-gated channel subfamily E member 3cardiac voltage-gated potassium channel accessory subunitminK-related peptide 2minimum potassium ion channel-related peptide 2potassium channel subunit beta MiRP2potassium channel, voltage gated sub | proteasome activator complex subunit 111S regulator complex subunit alpha29-kD MCP activator subunitIGUP I-5111activator of multicatalytic protease subunit 1epididymis secretory sperm binding protein Li 129minterferon gamma up-regulated I-5111 prote | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y6H6 | Q06323 | |
| Ensembl transtripts involved in fusion gene | ENST00000310128, ENST00000525550, | ENST00000206451, ENST00000559123, ENST00000382708, ENST00000561435, ENST00000470718, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 1=4 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: KCNE3 [Title/Abstract] AND PSME1 [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 | KCNE3 | GO:1902260 | negative regulation of delayed rectifier potassium channel activity | 12954870 |
| Hgene | KCNE3 | GO:1903765 | negative regulation of potassium ion export across plasma membrane | 22987075 |
| Hgene | KCNE3 | GO:1903817 | negative regulation of voltage-gated potassium channel activity | 22987075 |
| 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 | BI048257 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| * 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 | ENST00000310128 | ENST00000206451 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000310128 | ENST00000559123 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000310128 | ENST00000382708 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000310128 | ENST00000561435 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000310128 | ENST00000470718 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000525550 | ENST00000206451 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000525550 | ENST00000559123 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000525550 | ENST00000382708 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000525550 | ENST00000561435 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
| intron-intron | ENST00000525550 | ENST00000470718 | KCNE3 | chr11 | 74176021 | - | PSME1 | chr14 | 24606001 | + |
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FusionProtFeatures for KCNE3_PSME1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNE3 | PSME1 |
| 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 (PubMed:12954870). Associated withKCNC4/Kv3.4 is proposed to form the subthreshold voltage-gatedpotassium channel in skeletal muscle and to establish the restingmembrane potential (RMP) in muscle cells. Associated withKCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassiumchannel involved in chloride secretion that produces a currentwith nearly instantaneous activation with a linear current-voltagerelationship. {ECO:0000250|UniProtKB:Q9JJV7,ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:12954870}. | Implicated in immunoproteasome assembly and required forefficient antigen processing. The PA28 activator complex enhancesthe generation of class I binding peptides by altering thecleavage pattern of the proteasome. |
| 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 KCNE3_PSME1 |
| 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 KCNE3_PSME1 |
| 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 KCNE3_PSME1 |
| 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 KCNE3_PSME1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PSME1 | C0019693 | HIV Infections | 1 | CTD_human |
| Tgene | PSME1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | PSME1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | PSME1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
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