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Fusion gene ID: 17628 |
FusionGeneSummary for IPO11_RFFL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IPO11_RFFL | Fusion gene ID: 17628 | Hgene | Tgene | Gene symbol | IPO11 | RFFL | Gene ID | 51194 | 117584 |
| Gene name | importin 11 | ring finger and FYVE like domain containing E3 ubiquitin protein ligase | |
| Synonyms | RanBP11 | CARP-2|CARP2|FRING|RIFIFYLIN|RNF189|RNF34L | |
| Cytomap | 5q12.1 | 17q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | importin-11Ran binding protein 11imp11ran-binding protein 11 | E3 ubiquitin-protein ligase rififylinFYVE-RING finger protein SAKURARING finger and FYVE-like domain-containing protein 1RING finger protein 189RING-type E3 ubiquitin transferase rififylincaspase 8 and 10 associated RING protein-2caspase regulator C | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UI26 | Q8WZ73 | |
| Ensembl transtripts involved in fusion gene | ENST00000325324, ENST00000409296, ENST00000409534, ENST00000512177, | ENST00000315249, ENST00000580569, ENST00000268850, ENST00000378516, ENST00000584655, ENST00000394597, ENST00000447669, ENST00000415395, ENST00000413582, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 2 X 2 X 1=4 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: IPO11 [Title/Abstract] AND RFFL [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 | RFFL | GO:0006511 | ubiquitin-dependent protein catabolic process | 15069192 |
| Tgene | RFFL | GO:0070936 | protein K48-linked ubiquitination | 18450452|22609986 |
| 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 | BU507077 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| * 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-3UTR | ENST00000325324 | ENST00000315249 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000325324 | ENST00000580569 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000325324 | ENST00000268850 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000325324 | ENST00000378516 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000325324 | ENST00000584655 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000325324 | ENST00000394597 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000325324 | ENST00000447669 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000325324 | ENST00000415395 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000325324 | ENST00000413582 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409296 | ENST00000315249 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000409296 | ENST00000580569 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409296 | ENST00000268850 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409296 | ENST00000378516 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409296 | ENST00000584655 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409296 | ENST00000394597 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000409296 | ENST00000447669 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000409296 | ENST00000415395 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000409296 | ENST00000413582 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409534 | ENST00000315249 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000409534 | ENST00000580569 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409534 | ENST00000268850 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409534 | ENST00000378516 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409534 | ENST00000584655 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000409534 | ENST00000394597 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000409534 | ENST00000447669 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000409534 | ENST00000415395 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000409534 | ENST00000413582 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000512177 | ENST00000315249 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000512177 | ENST00000580569 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000512177 | ENST00000268850 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000512177 | ENST00000378516 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000512177 | ENST00000584655 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-3UTR | ENST00000512177 | ENST00000394597 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000512177 | ENST00000447669 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000512177 | ENST00000415395 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
| intron-intron | ENST00000512177 | ENST00000413582 | IPO11 | chr5 | 61836556 | + | RFFL | chr17 | 33337536 | - |
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FusionProtFeatures for IPO11_RFFL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IPO11 | RFFL |
| Functions in nuclear protein import as nuclear transportreceptor. Serves as receptor for nuclear localization signals(NLS) in cargo substrates. Is thought to mediate docking of theimportin/substrate complex to the nuclear pore complex (NPC)through binding to nucleoporin and the complex is subsequentlytranslocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ranbinds to the importin, the importin/substrate complex dissociatesand importin is re-exported from the nucleus to the cytoplasmwhere GTP hydrolysis releases Ran. The directionality of nuclearimport is thought to be conferred by an asymmetric distribution ofthe GTP- and GDP-bound forms of Ran between the cytoplasm andnucleus (By similarity). Mediates the nuclear import of UBE2E3,and of RPL12 (By similarity). {ECO:0000250,ECO:0000269|PubMed:11032817}. | E3 ubiquitin-protein ligase that regulates severalbiological processes through the ubiquitin-mediated proteasomaldegradation of various target proteins. Mediates 'Lys-48'-linkedpolyubiquitination of PRR5L and its subsequent proteasomaldegradation thereby indirectly regulating cell migration throughthe mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10,promoting their proteasomal degradation, to negatively regulatecell death downstream of death domain receptors in the extrinsicpathway of apoptosis. Negatively regulates the tumor necrosisfactor-mediated signaling pathway through targeting of RIPK1 toubiquitin-mediated proteasomal degradation. Negatively regulatesp53/TP53 through its direct ubiquitination and targeting toproteasomal degradation. Indirectly, may also negatively regulatep53/TP53 through ubiquitination and degradation of SFN. May alsoplay a role in endocytic recycling. {ECO:0000269|PubMed:15069192,ECO:0000269|PubMed:17121812, ECO:0000269|PubMed:18382127,ECO:0000269|PubMed:18450452, ECO:0000269|PubMed:22609986}. |
| 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 IPO11_RFFL |
| 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 IPO11_RFFL |
| 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 IPO11_RFFL |
| 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 IPO11_RFFL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IPO11 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | IPO11 | C0043094 | Weight Gain | 1 | CTD_human |
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