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Fusion gene ID: 21473 |
FusionGeneSummary for MED13_KCNJ2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MED13_KCNJ2 | Fusion gene ID: 21473 | Hgene | Tgene | Gene symbol | MED13 | KCNJ2 | Gene ID | 9969 | 3759 |
| Gene name | mediator complex subunit 13 | potassium voltage-gated channel subfamily J member 2 | |
| Synonyms | ARC250|DRIP250|HSPC221|THRAP1|TRAP240 | ATFB9|HHBIRK1|HHIRK1|IRK1|KIR2.1|LQT7|SQT3 | |
| Cytomap | 17q23.2 | 17q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mediator of RNA polymerase II transcription subunit 13activator-recruited cofactor 250 kDa componentmediator of RNA polymerase II transcription, subunit 13 homologthyroid hormone receptor-associated protein 1thyroid hormone receptor-associated protein | inward rectifier potassium channel 2IRK-1cardiac inward rectifier potassium channelhIRK1inward rectifier K+ channel KIR2.1potassium channel, inwardly rectifying subfamily J, member 2potassium inwardly-rectifying channel, subfamily J, member 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UHV7 | P63252 | |
| Ensembl transtripts involved in fusion gene | ENST00000397786, ENST00000580896, | ENST00000535240, ENST00000243457, | |
| Fusion gene scores | * DoF score | 13 X 13 X 6=1014 | 1 X 1 X 1=1 |
| # samples | 14 | 1 | |
| ** MAII score | log2(14/1014*10)=-2.85655892005837 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: MED13 [Title/Abstract] AND KCNJ2 [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 | MED13 | GO:0006367 | transcription initiation from RNA polymerase II promoter | 12218053 |
| Hgene | MED13 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 11867769 |
| Hgene | MED13 | GO:0030521 | androgen receptor signaling pathway | 12218053 |
| Hgene | MED13 | GO:0045893 | positive regulation of transcription, DNA-templated | 10198638 |
| Hgene | MED13 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12037571 |
| Tgene | KCNJ2 | GO:0006813 | potassium ion transport | 20921230 |
| Tgene | KCNJ2 | GO:0010107 | potassium ion import | 11371347 |
| Tgene | KCNJ2 | GO:0051289 | protein homotetramerization | 20921230 |
| Tgene | KCNJ2 | GO:0060306 | regulation of membrane repolarization | 11371347 |
| Tgene | KCNJ2 | GO:0071805 | potassium ion transmembrane transport | 12086641 |
| 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-A1-A0SN-01A | MED13 | chr17 | 60142501 | - | KCNJ2 | chr17 | 68170965 | + |
| * 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 | ENST00000397786 | ENST00000535240 | MED13 | chr17 | 60142501 | - | KCNJ2 | chr17 | 68170965 | + |
| 5CDS-5UTR | ENST00000397786 | ENST00000243457 | MED13 | chr17 | 60142501 | - | KCNJ2 | chr17 | 68170965 | + |
| intron-5UTR | ENST00000580896 | ENST00000535240 | MED13 | chr17 | 60142501 | - | KCNJ2 | chr17 | 68170965 | + |
| intron-5UTR | ENST00000580896 | ENST00000243457 | MED13 | chr17 | 60142501 | - | KCNJ2 | chr17 | 68170965 | + |
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FusionProtFeatures for MED13_KCNJ2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MED13 | KCNJ2 |
| Component of the Mediator complex, a coactivatorinvolved in the regulated transcription of nearly all RNApolymerase II-dependent genes. Mediator functions as a bridge toconvey information from gene-specific regulatory proteins to thebasal RNA polymerase II transcription machinery. Mediator isrecruited to promoters by direct interactions with regulatoryproteins and serves as a scaffold for the assembly of a functionalpreinitiation complex with RNA polymerase II and the generaltranscription factors. {ECO:0000269|PubMed:16595664}. | Probably participates in establishing action potentialwaveform and excitability of neuronal and muscle tissues. Inwardrectifier potassium channels are characterized by a greatertendency to allow potassium to flow into the cell rather than outof it. Their voltage dependence is regulated by the concentrationof extracellular potassium; as external potassium is raised, thevoltage range of the channel opening shifts to more positivevoltages. The inward rectification is mainly due to the blockageof outward current by internal magnesium. Can be blocked byextracellular barium or cesium. |
| 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 MED13_KCNJ2 |
| 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 MED13_KCNJ2 |
| 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 |
| MED13 | MED10, MED9, MED29, MED19, MED28, MED26, CDK8, VDR, ESR1, MED1, MED18, MED30, TRRAP, SREBF1, SUPT3H, MED12, ZC3H13, TRIP4, OBFC1, QKI, TADA2A, MED25, MED15, MED4, MED24, MED14, MED16, MED21, FBXW7, MED7, CDK19, CCNC, NR1I3, TCL1B, HIF1A, EFTUD2, MED17, PRPF8, MED27, MED6, MED8, RANBP2, MED23, TSC22D2, TRIM25 | KCNJ2 | DLG4, TRAK2, DLG1 |
| - 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 MED13_KCNJ2 |
| 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 MED13_KCNJ2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KCNJ2 | C1563715 | Andersen Syndrome | 7 | CTD_human;ORPHANET;UNIPROT |
| Tgene | KCNJ2 | C0003811 | Cardiac Arrhythmia | 2 | CTD_human |
| Tgene | KCNJ2 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | KCNJ2 | C0042514 | Tachycardia, Ventricular | 1 | CTD_human |
| Tgene | KCNJ2 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| Tgene | KCNJ2 | C1865018 | Short QT Syndrome 3 | 1 | CTD_human;UNIPROT |
| Tgene | KCNJ2 | C3151431 | ATRIAL FIBRILLATION, FAMILIAL, 9 | 1 | UNIPROT |
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