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Fusion gene ID: 12176 |
FusionGeneSummary for ETV6_CIDEA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ETV6_CIDEA | Fusion gene ID: 12176 | Hgene | Tgene | Gene symbol | ETV6 | CIDEA | Gene ID | 2120 | 1149 |
| Gene name | ETS variant 6 | cell death-inducing DFFA-like effector a | |
| Synonyms | TEL|TEL/ABL|THC5 | CIDE-A | |
| Cytomap | 12p13.2 | 18p11.21|18 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | cell death activator CIDE-A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P41212 | O60543 | |
| Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000320477, ENST00000521296, | |
| Fusion gene scores | * DoF score | 23 X 26 X 11=6578 | 2 X 2 X 2=8 |
| # samples | 47 | 2 | |
| ** MAII score | log2(47/6578*10)=-3.8069163462704 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ETV6 [Title/Abstract] AND CIDEA [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | ETV6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10514502 |
| 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 | MESO | TCGA-SC-A6LN-01A | ETV6 | chr12 | 11803094 | + | CIDEA | chr18 | 12274092 | + |
| * 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 |
| In-frame | ENST00000396373 | ENST00000320477 | ETV6 | chr12 | 11803094 | + | CIDEA | chr18 | 12274092 | + |
| 5CDS-3UTR | ENST00000396373 | ENST00000521296 | ETV6 | chr12 | 11803094 | + | CIDEA | chr18 | 12274092 | + |
| 3UTR-3CDS | ENST00000544715 | ENST00000320477 | ETV6 | chr12 | 11803094 | + | CIDEA | chr18 | 12274092 | + |
| 3UTR-3UTR | ENST00000544715 | ENST00000521296 | ETV6 | chr12 | 11803094 | + | CIDEA | chr18 | 12274092 | + |
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FusionProtFeatures for ETV6_CIDEA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ETV6 | CIDEA |
| Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. | Acts as a CEBPB coactivator in mammary epithelial cellsto control the expression of a subset of CEBPB downstream targetgenes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but notcasein. By interacting with CEBPB, strengthens the association ofCEBPB with the XDH promoter, increases histone acetylation anddissociates HDAC1 from the promoter (By similarity). Binds tolipid droplets and regulates their enlargement, therebyrestricting lipolysis and favoring storage. At focal contact sitesbetween lipid droplets, promotes directional net neutral lipidtransfer from the smaller to larger lipid droplets. The transferdirection may be driven by the internal pressure differencebetween the contacting lipid droplet pair and occurs at a lowerrate than that promoted by CIDEC. When overexpressed, inducesapoptosis. The physiological significance of its role in apoptosisis unclear. {ECO:0000250, ECO:0000269|PubMed:19843876}. |
| 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 |
| Hgene | >ETV6 | chr12:11803094 | chr18:12274092 | ENST00000396373 | + | 1 | 8 | 339_420 | 11 | 453 | DNA binding | ETS |
| Hgene | >ETV6 | chr12:11803094 | chr18:12274092 | ENST00000396373 | + | 1 | 8 | 40_124 | 11 | 453 | Domain | PNT |
| Tgene | CIDEA | chr12:11803094 | chr18:12274092 | ENST00000320477 | + | 2 | 5 | 33_110 | 110 | 220 | Domain | CIDE-N |
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FusionGeneSequence for ETV6_CIDEA |
| 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. |
| >In-frame_ETV6_ENST00000396373_chr12_11803094_+_CIDEA_ENST00000320477_chr18_12274092_+_121aa MSETPAQCSIKGSQHVPTCSPPKRSGIARVTFDLYRLNPKDFIGCLNVKATMTEMYSVSYDIRCTGLKGLLRSLLRFLSYSAQVTGQFLI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ETV6_ENST00000396373_chr12_11803094_+_CIDEA_ENST00000320477_chr18_12274092_+_363nt ATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGGGCAGCCAGCACGTCCCCACTTGCTCGCCGCCGAAGAGGTCGGGAATAGCGAGAGTC ACCTTCGACTTGTACAGGCTGAACCCCAAGGACTTCATCGGCTGCCTTAACGTGAAGGCCACCATGTATGAGATGTACTCCGTGTCCTAC GACATCCGGTGCACGGGACTCAAGGGCCTGCTGAGGAGTCTGCTGCGGTTCCTGTCCTACTCCGCCCAGGTGACGGGACAGTTTCTCATC TATCTGGGCACATACATGCTCCGGGTGCTGGATGACAAGGAAGAGCGGCCATCCCTCCGGTCACAAGCCAAGGGCAGGTTCACGTGTGGA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ETV6_ENST00000396373_chr12_11803094_+_CIDEA_ENST00000320477_chr18_12274092_+_740nt GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGGGCAGCCAGCACGTCCCCACTTGCTCGCCGCCGAAGAGGTCGGGAATAGCGAG AGTCACCTTCGACTTGTACAGGCTGAACCCCAAGGACTTCATCGGCTGCCTTAACGTGAAGGCCACCATGTATGAGATGTACTCCGTGTC CTACGACATCCGGTGCACGGGACTCAAGGGCCTGCTGAGGAGTCTGCTGCGGTTCCTGTCCTACTCCGCCCAGGTGACGGGACAGTTTCT CATCTATCTGGGCACATACATGCTCCGGGTGCTGGATGACAAGGAAGAGCGGCCATCCCTCCGGTCACAAGCCAAGGGCAGGTTCACGTG TGGATAGGGATGCAGGCTGTCGCCGGCTCTTGAGCCAAACACTGTGTTTCGTTTGGCTCAATGACGAATGTTGAAGATGCTTTTATGTTC |
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FusionGenePPI for ETV6_CIDEA |
| 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 |
| ETV6 | KAT5, GAB2, ETV6, GRB2, CRKL, ACTA1, HDAC9, FLI1, FBXL6, SKP1, L3MBTL1, IRF8, NCOR1, SIN3A, HDAC3, UBE2I, ELAVL1, PDGFRB, SUMO1, SOCS1, SOCS3, TRAF3, SOX2, HDAC6, PIN1, AP1M1, WDYHV1, LRP6, LRP5, NID2, ETV7, USP7, VPS26B, NFATC2 | CIDEA | ZBTB16, CIDEB, PRKAB1, IGHG2, PKP1, S100A14, SERPINA12, PKP3, CIDEC, ICAM1, KPRP |
| - 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 ETV6_CIDEA |
| 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 ETV6_CIDEA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ETV6 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 3 | CTD_human |
| Hgene | ETV6 | C0040034 | Thrombocytopenia | 2 | CTD_human;HPO |
| Hgene | ETV6 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Hgene | ETV6 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
| Hgene | ETV6 | C1838656 | Macrocytosis, Familial | 1 | CTD_human |
| Hgene | ETV6 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
| Hgene | ETV6 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Hgene | ETV6 | C4015537 | THROMBOCYTOPENIA 5 | 1 | UNIPROT |
| Tgene | CIDEA | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | CIDEA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CIDEA | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | CIDEA | C0028754 | Obesity | 1 | CTD_human |
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