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Fusion gene ID: 38114 |
FusionGeneSummary for TIMMDC1_RBL2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TIMMDC1_RBL2 | Fusion gene ID: 38114 | Hgene | Tgene | Gene symbol | TIMMDC1 | RBL2 | Gene ID | 51300 | 5934 |
| Gene name | translocase of inner mitochondrial membrane domain containing 1 | RB transcriptional corepressor like 2 | |
| Synonyms | C3orf1 | P130|Rb2 | |
| Cytomap | 3q13.33 | 16q12.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | complex I assembly factor TIMMDC1, mitochondrialM5-14 proteinTIMM domain containing-protein 1translocase of inner mitochondrial membrane domain-containing protein 1transmembrane protein C3orf1 | retinoblastoma-like protein 2130 kDa retinoblastoma-associated proteinPRB2RBR-2retinoblastoma-like 2retinoblastoma-related protein 2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NPL8 | Q08999 | |
| Ensembl transtripts involved in fusion gene | ENST00000494664, ENST00000493694, | ENST00000262133, ENST00000379935, ENST00000544545, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 3 X 3=36 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TIMMDC1 [Title/Abstract] AND RBL2 [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 |
| Tgene | RBL2 | GO:0043550 | regulation of lipid kinase activity | 16286473 |
| 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 | CA429191 | TIMMDC1 | chr3 | 119242451 | - | RBL2 | chr16 | 53524214 | - |
| * 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-3UTR | ENST00000494664 | ENST00000262133 | TIMMDC1 | chr3 | 119242451 | - | RBL2 | chr16 | 53524214 | - |
| intron-3UTR | ENST00000494664 | ENST00000379935 | TIMMDC1 | chr3 | 119242451 | - | RBL2 | chr16 | 53524214 | - |
| intron-3UTR | ENST00000494664 | ENST00000544545 | TIMMDC1 | chr3 | 119242451 | - | RBL2 | chr16 | 53524214 | - |
| intron-3UTR | ENST00000493694 | ENST00000262133 | TIMMDC1 | chr3 | 119242451 | - | RBL2 | chr16 | 53524214 | - |
| intron-3UTR | ENST00000493694 | ENST00000379935 | TIMMDC1 | chr3 | 119242451 | - | RBL2 | chr16 | 53524214 | - |
| intron-3UTR | ENST00000493694 | ENST00000544545 | TIMMDC1 | chr3 | 119242451 | - | RBL2 | chr16 | 53524214 | - |
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FusionProtFeatures for TIMMDC1_RBL2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TIMMDC1 | RBL2 |
| Chaperone protein involved in the assembly of themitochondrial NADH:ubiquinone oxidoreductase complex (complex I).Participates in constructing the membrane arm of complex I.{ECO:0000269|PubMed:24191001}. | Key regulator of entry into cell division. Directlyinvolved in heterochromatin formation by maintaining overallchromatin structure and, in particular, that of constitutiveheterochromatin by stabilizing histone methylation. Recruits andtargets histone methyltransferases KMT5B and KMT5C, leading toepigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor byrecruiting chromatin-modifying enzymes to promoters. Potentinhibitor of E2F-mediated trans-activation, associatespreferentially with E2F5. Binds to cyclins A and E. Binds to andmay be involved in the transforming capacity of the adenovirus E1Aprotein. May act as a tumor suppressor. |
| 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 TIMMDC1_RBL2 |
| 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 TIMMDC1_RBL2 |
| 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 TIMMDC1_RBL2 |
| 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 TIMMDC1_RBL2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RBL2 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| Tgene | RBL2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | RBL2 | C0919267 | ovarian neoplasm | 1 | CTD_human |
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