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Fusion gene ID: 12193 |
FusionGeneSummary for ETV6_YTHDF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ETV6_YTHDF2 | Fusion gene ID: 12193 | Hgene | Tgene | Gene symbol | ETV6 | YTHDF2 | Gene ID | 2120 | 51441 |
| Gene name | ETS variant 6 | YTH N6-methyladenosine RNA binding protein 2 | |
| Synonyms | TEL|TEL/ABL|THC5 | CAHL|HGRG8|NY-REN-2 | |
| Cytomap | 12p13.2 | 1p35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | YTH domain-containing family protein 29430020E02RikCLL-associated antigen KW-14YTH N(6)-methyladenosine RNA binding protein 2YTH domain family, member 2high-glucose-regulated protein 8renal carcinoma antigen NY-REN-2 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P41212 | Q9Y5A9 | |
| Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000542507, ENST00000373812, ENST00000541996, ENST00000478283, | |
| Fusion gene scores | * DoF score | 23 X 26 X 11=6578 | 7 X 3 X 5=105 |
| # samples | 47 | 8 | |
| ** MAII score | log2(47/6578*10)=-3.8069163462704 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/105*10)=-0.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ETV6 [Title/Abstract] AND YTHDF2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) 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 |
| Tgene | YTHDF2 | GO:1903679 | positive regulation of cap-independent translational initiation | 26458103 |
| 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 | BRCA | TCGA-EW-A1PB-01A | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
| * 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 |
| Frame-shift | ENST00000396373 | ENST00000542507 | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
| Frame-shift | ENST00000396373 | ENST00000373812 | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
| Frame-shift | ENST00000396373 | ENST00000541996 | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
| 5CDS-3UTR | ENST00000396373 | ENST00000478283 | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
| intron-3CDS | ENST00000544715 | ENST00000542507 | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
| intron-3CDS | ENST00000544715 | ENST00000373812 | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
| intron-3CDS | ENST00000544715 | ENST00000541996 | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
| intron-3UTR | ENST00000544715 | ENST00000478283 | ETV6 | chr12 | 11992238 | + | YTHDF2 | chr1 | 29095441 | + |
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FusionProtFeatures for ETV6_YTHDF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ETV6 | YTHDF2 |
| Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. | Specifically recognizes and binds N6-methyladenosine(m6A)-containing RNAs, and regulates mRNA stability(PubMed:24284625, PubMed:26046440, PubMed:26318451). M6A is amodification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing(PubMed:22575960, PubMed:24284625, PubMed:25412658,PubMed:25412661). Acts as a regulator of mRNA stability: bindingto m6A-containing mRNAs results in the localization to mRNA decaysites, such as processing bodies (P-bodies), leading to mRNAdegradation (PubMed:24284625, PubMed:26046440). Requiredmaternally to regulate oocyte maturation: probably acts by bindingto m6A-containing mRNAs, thereby regulating maternal transcriptdosage during oocyte maturation, which is essential for thecompetence of oocytes to sustain early zygotic development (Bysimilarity). Also involved in haematopoietic stem cellsspecification: acts by binding to m6A-containing mRNAs, leading todecrease Notch dignaling and promote endothelial to haematopoietictransition (By similarity). Also acts as a promoter of cap-independent mRNA translation following heat shock stress: uponstress, relocalizes to the nucleus and specifically binds mRNAswith some m6A methylation mark at their 5'-UTR, protectingdemethylation of mRNAs by FTO, thereby promoting cap-independentmRNA translation (PubMed:26458103). May inhibit replication ofkaposis sarcoma-associated herpesvirus (KSHV); its role is howeverunclear and additional evidences are needed to confirm suchresults (PubMed:29109479). {ECO:0000250|UniProtKB:E7F1H9,ECO:0000250|UniProtKB:Q91YT7, ECO:0000269|PubMed:22575960,ECO:0000269|PubMed:24284625, ECO:0000269|PubMed:25412658,ECO:0000269|PubMed:25412661, ECO:0000269|PubMed:26046440,ECO:0000269|PubMed:26318451, ECO:0000269|PubMed:26458103,ECO:0000269|PubMed:29109479}. (Microbial infection) Promotes viral gene expression andreplication of polyomavirus SV40: acts by binding to N6-methyladenosine (m6A)-containing viral RNAs (PubMed:29447282).{ECO:0000269|PubMed:29447282}. (Microbial infection) Promotes viral gene expression andvirion production of kaposis sarcoma-associated herpesvirus (KSHV)at some stage of the KSHV life cycle (in iSLK.219 and iSLK.BAC16cells) (PubMed:29659627). Acts by binding to N6-methyladenosine(m6A)-containing viral RNAs (PubMed:29659627).{ECO:0000269|PubMed:29659627}. |
| 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 ETV6_YTHDF2 |
| 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 ETV6_YTHDF2 |
| 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 | YTHDF2 | HNRNPA1, HNRNPH1, MEPCE, POT1, ELAVL1, CUL3, CAND1, SMAD3, APP, ESR1, EPAS1, FN1, VCAM1, HIPK4, FBXO6, TARDBP, EIF3A, EIF3H, RPA3, RPA2, RPA1, RNF2, BMI1, RPS6KB2, AGL, HMBS, ASPSCR1, SEPT7, SFPQ, USP13, USP5, NTRK1, B9D2, DCTN1, CEP19, XPO1, RPL10, MCM2, OTUB1, G3BP1 |
| - 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_YTHDF2 |
| 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_YTHDF2 |
| 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 |
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