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Fusion gene ID: 11185 |
FusionGeneSummary for EID2_TDRD12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EID2_TDRD12 | Fusion gene ID: 11185 | Hgene | Tgene | Gene symbol | EID2 | TDRD12 | Gene ID | 163126 | 91646 |
| Gene name | EP300 interacting inhibitor of differentiation 2 | tudor domain containing 12 | |
| Synonyms | CRI2|EID-2 | ECAT8 | |
| Cytomap | 19q13.2 | 19q13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | EP300-interacting inhibitor of differentiation 2CREBBP/EP300 inhibitor 2CREBBP/EP300 inhibitory protein 2E1A like inhibitor of differentiation 2EID-1-like inhibitor of differentiation 2 | putative ATP-dependent RNA helicase TDRD12ES cell associated transcript 8ES cell-associated transcript 8 proteintudor domain-containing protein 12 | |
| Modification date | 20180519 | 20180409 | |
| UniProtAcc | Q8N6I1 | Q587J7 | |
| Ensembl transtripts involved in fusion gene | ENST00000390658, | ENST00000444215, ENST00000421545, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 9 X 6 X 6=324 |
| # samples | 3 | 9 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EID2 [Title/Abstract] AND TDRD12 [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 | EID2 | GO:0007181 | transforming growth factor beta receptor complex assembly | 14612439 |
| Hgene | EID2 | GO:0007183 | SMAD protein complex assembly | 14612439 |
| Hgene | EID2 | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 14612439 |
| Hgene | EID2 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 14612439 |
| Hgene | EID2 | GO:0042127 | regulation of cell proliferation | 14612439 |
| Hgene | EID2 | GO:0045892 | negative regulation of transcription, DNA-templated | 14612439 |
| 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 | LD | UCS | TCGA-NA-A4QX-01A | EID2 | chr19 | 40030642 | - | TDRD12 | chr19 | 33222631 | + |
| * 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-3CDS | ENST00000390658 | ENST00000444215 | EID2 | chr19 | 40030642 | - | TDRD12 | chr19 | 33222631 | + |
| intron-3CDS | ENST00000390658 | ENST00000421545 | EID2 | chr19 | 40030642 | - | TDRD12 | chr19 | 33222631 | + |
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FusionProtFeatures for EID2_TDRD12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EID2 | TDRD12 |
| Interacts with EP300 and acts as a repressor of MYOD-dependent transcription and muscle differentiation. Inhibits EP300histone acetyltransferase activity. Acts as a repressor ofTGFB/SMAD transcriptional responses. May act as a repressor of theTGFB/SMAD3-dependent signaling by selectively blocking formationof TGFB-induced SMAD3-SMAD4 complex. {ECO:0000269|PubMed:12586827,ECO:0000269|PubMed:14585496, ECO:0000269|PubMed:14612439}. | Probable ATP-binding RNA helicase required duringspermatogenesis to repress transposable elements and preventingtheir mobilization, which is essential for the germline integrity.Acts via the piRNA metabolic process, which mediates therepression of transposable elements during meiosis by formingcomplexes composed of piRNAs and Piwi proteins and governs themethylation and subsequent repression of transposons. Involved inthe secondary piRNAs metabolic process. Acts via the PET complex,a multiprotein complex required during the secondary piRNAsmetabolic process for the PIWIL2 slicing-triggered loading ofPIWIL4 piRNAs. {ECO:0000250|UniProtKB:Q9CWU0}. |
| 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 EID2_TDRD12 |
| 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 EID2_TDRD12 |
| 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 |
| EID2 | SMAD2, SMAD3, SMAD4, HDAC2, MAGEA1, MAGEF1, NDN, MAGEC2, MAGED2, MAGEB1, MAGEH1, EID3, EP300, XPO1, FBXO21, MAGEE1, KERA | TDRD12 |
| - 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 EID2_TDRD12 |
| 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 EID2_TDRD12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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