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Fusion gene ID: 12106 |
FusionGeneSummary for ESRRA_KCNK4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ESRRA_KCNK4 | Fusion gene ID: 12106 | Hgene | Tgene | Gene symbol | ESRRA | KCNK4 | Gene ID | 2101 | 50801 |
| Gene name | estrogen related receptor alpha | potassium two pore domain channel subfamily K member 4 | |
| Synonyms | ERR1|ERRa|ERRalpha|ESRL1|NR3B1 | K2p4.1|TRAAK|TRAAK1 | |
| Cytomap | 11q13.1 | 11q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | steroid hormone receptor ERR1ERR-alphaestrogen receptor-like 1estrogen-related nuclear receptor alphanuclear receptor subfamily 3 group B member 1 | potassium channel subfamily K member 4K2P4.1 potassium channelTWIK-related arachidonic acid-stimulated potassium channel proteinpotassium channel, subfamily K, member 4potassium channel, two pore domain subfamily K, member 4two pore K(+) channel KT4. | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P11474 | Q9NYG8 | |
| Ensembl transtripts involved in fusion gene | ENST00000406310, ENST00000000442, ENST00000405666, | ENST00000538767, ENST00000422670, ENST00000539651, ENST00000394525, ENST00000539216, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ESRRA [Title/Abstract] AND KCNK4 [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 | KCNK4 | GO:0071260 | cellular response to mechanical stimulus | 22282805 |
| Tgene | KCNK4 | GO:0071398 | cellular response to fatty acid | 22282805 |
| Tgene | KCNK4 | GO:0071805 | potassium ion transmembrane transport | 22282805 |
| 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 | LIHC | TCGA-2Y-A9GZ-01A | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| * 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-5UTR | ENST00000406310 | ENST00000538767 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-5UTR | ENST00000406310 | ENST00000422670 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000406310 | ENST00000539651 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000406310 | ENST00000394525 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000406310 | ENST00000539216 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-5UTR | ENST00000000442 | ENST00000538767 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-5UTR | ENST00000000442 | ENST00000422670 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000000442 | ENST00000539651 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000000442 | ENST00000394525 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000000442 | ENST00000539216 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-5UTR | ENST00000405666 | ENST00000538767 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-5UTR | ENST00000405666 | ENST00000422670 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000405666 | ENST00000539651 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000405666 | ENST00000394525 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
| 5CDS-3UTR | ENST00000405666 | ENST00000539216 | ESRRA | chr11 | 64074976 | + | KCNK4 | chr11 | 64064350 | + |
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FusionProtFeatures for ESRRA_KCNK4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ESRRA | KCNK4 |
| Binds to an ERR-alpha response element (ERRE) containinga single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to themedium-chain acyl coenzyme A dehydrogenase (MCAD) response elementNRRE-1 and may act as an important regulator of MCAD promoter.Binds to the C1 region of the lactoferrin gene promoter. Requiresdimerization and the coactivator, PGC-1A, for full activity. TheERRalpha/PGC1alpha complex is a regulator of energy metabolism.Induces the expression of PERM1 in the skeletal muscle.{ECO:0000269|PubMed:12522104, ECO:0000269|PubMed:16150865,ECO:0000269|PubMed:17676930, ECO:0000269|PubMed:18063693,ECO:0000269|PubMed:23836911, ECO:0000269|PubMed:9271417}. | Voltage-insensitive potassium channel (PubMed:22282805).Channel opening is triggered by mechanical forces that deform themembrane (PubMed:22282805, PubMed:25471887, PubMed:25500157).Channel opening is triggered by raising the intracellular pH tobasic levels (By similarity). The channel is inactive at 24degrees Celsius (in vitro); raising the temperature to 37 degreesCelsius increases the frequency of channel opening, with a furtherincrease in channel activity when the temperature is raised to 42degrees Celsius (By similarity). Plays a role in the perception ofpain caused by heat (By similarity). Plays a role in the sensoryperception of pain caused by pressure (By similarity).{ECO:0000250|UniProtKB:G3V8V5, ECO:0000250|UniProtKB:O88454,ECO:0000269|PubMed:22282805, ECO:0000269|PubMed:25471887,ECO:0000269|PubMed:25500157}. |
| 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 ESRRA_KCNK4 |
| 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 ESRRA_KCNK4 |
| 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 |
| ESRRA | NCOA3, LYST, ESRRG, NRIP1, SP1, PPARGC1A, KAT2B, SIRT1, HDAC8, PARK2, NR0B1, DUT, PROX1, TNNI2, NR0B2, MACF1, TFAP4, WDR36, ZNF606, IPO13, C2CD5, ATXN1, SMARCD3, ESR1, ADH5, FUS, MAP2K5, NXF1, PIAS4, EXOSC6, NSD1, NCOA1, PSMC5, GYPB, TRIM25 | KCNK4 | DIDO1, RPL14 |
| - 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 ESRRA_KCNK4 |
| 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 | ESRRA | P11474 | DB00255 | Diethylstilbestrol | Steroid hormone receptor ERR1 | small molecule | approved|investigational |
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RelatedDiseases for ESRRA_KCNK4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ESRRA | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | ESRRA | C0025517 | Metabolic Diseases | 1 | CTD_human |
| Hgene | ESRRA | C0029463 | Osteosarcoma | 1 | CTD_human |
| Hgene | ESRRA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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