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Fusion gene ID: 12187 |
FusionGeneSummary for ETV6_PDE6H |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ETV6_PDE6H | Fusion gene ID: 12187 | Hgene | Tgene | Gene symbol | ETV6 | PDE6H | Gene ID | 2120 | 5149 |
| Gene name | ETS variant 6 | phosphodiesterase 6H | |
| Synonyms | TEL|TEL/ABL|THC5 | ACHM6|RCD3 | |
| Cytomap | 12p13.2 | 12p12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaGMP-PDE gammaphosphodiesterase 6H, cGMP-specific, cone, gamma | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P41212 | Q13956 | |
| Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000266395, | |
| Fusion gene scores | * DoF score | 23 X 26 X 11=6578 | 2 X 1 X 2=4 |
| # 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(2/4*10)=2.32192809488736 | |
| Context | PubMed: ETV6 [Title/Abstract] AND PDE6H [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 | 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 | PRAD | TCGA-J4-AATZ-01A | ETV6 | chr12 | 11803094 | + | PDE6H | chr12 | 15130906 | + |
| * 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 |
| 5CDS-5UTR | ENST00000396373 | ENST00000266395 | ETV6 | chr12 | 11803094 | + | PDE6H | chr12 | 15130906 | + |
| 3UTR-5UTR | ENST00000544715 | ENST00000266395 | ETV6 | chr12 | 11803094 | + | PDE6H | chr12 | 15130906 | + |
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FusionProtFeatures for ETV6_PDE6H |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ETV6 | PDE6H |
| Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. | Participates in processes of transmission andamplification of the visual signal. cGMP-PDEs are the effectormolecules in G-protein-mediated phototransduction in vertebraterods and cones. |
| 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_PDE6H |
| 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_PDE6H |
| 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 | PDE6H | APP, AGTR1, COTL1, CYLD |
| - 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_PDE6H |
| 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 |
| Tgene | PDE6H | Q13956 | DB00862 | Vardenafil | Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma | small molecule | approved |
| Tgene | PDE6H | Q13956 | DB00203 | Sildenafil | Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma | small molecule | approved|investigational |
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RelatedDiseases for ETV6_PDE6H |
| 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 | PDE6H | C0009398 | Color vision defect | 1 | CTD_human |
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