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Fusion gene ID: 31322 |
FusionGeneSummary for RMI2_MED17 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RMI2_MED17 | Fusion gene ID: 31322 | Hgene | Tgene | Gene symbol | RMI2 | MED17 | Gene ID | 116028 | 9440 |
| Gene name | RecQ mediated genome instability 2 | mediator complex subunit 17 | |
| Synonyms | BLAP18|C16orf75 | CRSP6|CRSP77|DRIP80|SRB4|TRAP80 | |
| Cytomap | 16p13.13 | 11q21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | recQ-mediated genome instability protein 2BLM-associated protein of 18 kDaRMI2, RecQ mediated genome instability 2, homolog | mediator of RNA polymerase II transcription subunit 17ARC77CRSP complex subunit 6activator-recruited cofactor 77 kDa componentcofactor required for Sp1 transcriptional activation, subunit 6, 77kDathyroid hormone receptor-associated protein complex 80 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96E14 | Q9NVC6 | |
| Ensembl transtripts involved in fusion gene | ENST00000572173, ENST00000572992, ENST00000381820, ENST00000312499, ENST00000576027, | ENST00000251871, ENST00000530819, ENST00000533367, | |
| Fusion gene scores | * DoF score | 8 X 8 X 2=128 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/128*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: RMI2 [Title/Abstract] AND MED17 [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 | MED17 | GO:0006357 | regulation of transcription by RNA polymerase II | 9989412 |
| Tgene | MED17 | GO:0006367 | transcription initiation from RNA polymerase II promoter | 12218053 |
| Tgene | MED17 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 11867769 |
| Tgene | MED17 | GO:0030521 | androgen receptor signaling pathway | 12218053 |
| Tgene | MED17 | GO:0045893 | positive regulation of transcription, DNA-templated | 10198638 |
| Tgene | MED17 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12037571 |
| 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 | BG822170 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| * 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 |
| 3UTR-5UTR | ENST00000572173 | ENST00000251871 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-5UTR | ENST00000572173 | ENST00000530819 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-intron | ENST00000572173 | ENST00000533367 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| intron-5UTR | ENST00000572992 | ENST00000251871 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| intron-5UTR | ENST00000572992 | ENST00000530819 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| intron-intron | ENST00000572992 | ENST00000533367 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-5UTR | ENST00000381820 | ENST00000251871 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-5UTR | ENST00000381820 | ENST00000530819 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-intron | ENST00000381820 | ENST00000533367 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-5UTR | ENST00000312499 | ENST00000251871 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-5UTR | ENST00000312499 | ENST00000530819 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-intron | ENST00000312499 | ENST00000533367 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-5UTR | ENST00000576027 | ENST00000251871 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-5UTR | ENST00000576027 | ENST00000530819 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
| 3UTR-intron | ENST00000576027 | ENST00000533367 | RMI2 | chr16 | 11444722 | - | MED17 | chr11 | 93517552 | + |
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FusionProtFeatures for RMI2_MED17 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RMI2 | MED17 |
| Essential component of the RMI complex, a complex thatplays an important role in the processing of homologousrecombination intermediates. It is required to regulate sisterchromatid segregation and to limit DNA crossover. Essential forthe stability, localization, and function of BLM, TOP3A, andcomplexes containing BLM. In the RMI complex, it is required totarget BLM to chromatin and stress-induced nuclear foci andmitotic phosphorylation of BLM. {ECO:0000269|PubMed:18923082,ECO:0000269|PubMed:18923083, ECO:0000269|PubMed:27977684}. | 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}. |
| 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 RMI2_MED17 |
| 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 RMI2_MED17 |
| 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 RMI2_MED17 |
| 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 RMI2_MED17 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MED17 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | MED17 | C3150921 | MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | 1 | CTD_human;ORPHANET;UNIPROT |
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