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Fusion gene ID: 39707 |
FusionGeneSummary for TRUB2_EHD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TRUB2_EHD2 | Fusion gene ID: 39707 | Hgene | Tgene | Gene symbol | TRUB2 | EHD2 | Gene ID | 26995 | 30846 |
| Gene name | TruB pseudouridine synthase family member 2 | EH domain containing 2 | |
| Synonyms | CLONE24922 | PAST2 | |
| Cytomap | 9q34.11 | 19q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial mRNA pseudouridine synthase TRUB2TruB pseudouridine (psi) synthase family member 2TruB pseudouridine (psi) synthase homolog 2probable tRNA pseudouridine synthase 2 | EH domain-containing protein 2PAST homolog 2 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | O95900 | Q9NZN4 | |
| Ensembl transtripts involved in fusion gene | ENST00000372890, ENST00000546104, ENST00000460320, | ENST00000263277, ENST00000538399, ENST00000540884, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 6 X 7 X 1=42 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/42*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TRUB2 [Title/Abstract] AND EHD2 [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 |
| 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 | AK130008 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| * 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-intron | ENST00000372890 | ENST00000263277 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| intron-intron | ENST00000372890 | ENST00000538399 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| intron-intron | ENST00000372890 | ENST00000540884 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| intron-intron | ENST00000546104 | ENST00000263277 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| intron-intron | ENST00000546104 | ENST00000538399 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| intron-intron | ENST00000546104 | ENST00000540884 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| intron-intron | ENST00000460320 | ENST00000263277 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| intron-intron | ENST00000460320 | ENST00000538399 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
| intron-intron | ENST00000460320 | ENST00000540884 | TRUB2 | chr9 | 131084189 | - | EHD2 | chr19 | 48225937 | + |
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FusionProtFeatures for TRUB2_EHD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TRUB2 | EHD2 |
| Minor enzyme contributing to the isomerization ofuridine to pseudouridine (pseudouridylation) of specificmitochondrial mRNAs (mt-mRNAs) such as COXI and COXIII mt-mRNAs(PubMed:27974379). As a component of a functional protein-RNAmodule, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16Smt-rRNA abundance and is required for intra-mitochondrialtranslation (PubMed:27667664). {ECO:0000269|PubMed:27667664,ECO:0000269|PubMed:27974379}. | ATP- and membrane-binding protein that controls membranereorganization/tubulation upon ATP hydrolysis (By similarity).Plays a role in membrane trafficking between the plasma membraneand endosomes (PubMed:17233914). Important for the internalizationof GLUT4. Required for fusion of myoblasts to skeletal musclemyotubes. Required for normal translocation of FER1L5 to theplasma membrane (By similarity). Regulates the equilibrium betweencell surface-associated and cell surface-dissociated caveolae byconstraining caveolae at the cell membrane (PubMed:25588833).{ECO:0000250|UniProtKB:Q8BH64, ECO:0000269|PubMed:17233914,ECO:0000269|PubMed:25588833}. |
| 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 TRUB2_EHD2 |
| 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 TRUB2_EHD2 |
| 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 TRUB2_EHD2 |
| 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 TRUB2_EHD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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