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Fusion gene ID: 31292 |
FusionGeneSummary for RIT1_TARS2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RIT1_TARS2 | Fusion gene ID: 31292 | Hgene | Tgene | Gene symbol | RIT1 | TARS2 | Gene ID | 64919 | 80222 |
| Gene name | B cell CLL/lymphoma 11B | threonyl-tRNA synthetase 2, mitochondrial | |
| Synonyms | ATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IMD49|RIT1|ZNF856B|hRIT1-alpha | COXPD21|TARSL1|thrRS | |
| Cytomap | 14q32.2 | 1q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | B-cell lymphoma/leukemia 11BB-cell CLL/lymphoma 11B (zinc finger protein)B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion proteinB-cell lymphoma/leukaemia 11BBCL-11BBCL11B/TRDC fusionCOUP-TF-interacting protein 2hRit1radiation- | threonine--tRNA ligase, mitochondrialthreonyl-tRNA synthetase 2, mitochondrial (putative)threonyl-tRNA synthetase-like 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q92963 | Q9BW92 | |
| Ensembl transtripts involved in fusion gene | ENST00000368323, ENST00000539040, ENST00000368322, | ENST00000438568, ENST00000369054, ENST00000369064, ENST00000606933, ENST00000463555, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 5 X 3 X 4=60 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RIT1 [Title/Abstract] AND TARS2 [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 |
| TCGA | LD | UCEC | TCGA-FI-A3PX-01A | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| * 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-intron | ENST00000368323 | ENST00000438568 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000368323 | ENST00000369054 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000368323 | ENST00000369064 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000368323 | ENST00000606933 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-3UTR | ENST00000368323 | ENST00000463555 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000539040 | ENST00000438568 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000539040 | ENST00000369054 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000539040 | ENST00000369064 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000539040 | ENST00000606933 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-3UTR | ENST00000539040 | ENST00000463555 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000368322 | ENST00000438568 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000368322 | ENST00000369054 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000368322 | ENST00000369064 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-intron | ENST00000368322 | ENST00000606933 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
| 5CDS-3UTR | ENST00000368322 | ENST00000463555 | RIT1 | chr1 | 155874102 | - | TARS2 | chr1 | 150476811 | + |
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FusionProtFeatures for RIT1_TARS2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RIT1 | TARS2 |
| Plays a crucial role in coupling NGF stimulation to theactivation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1transactivation through the Ras-MAPK signaling cascade thatmediates a wide variety of cellular functions, including cellproliferation, survival, and differentiation.{ECO:0000269|PubMed:15632082, ECO:0000269|PubMed:23791108}. | Catalyzes the attachment of threonine to tRNA(Thr) in atwo-step reaction: threonine is first activated by ATP to formThr-AMP and then transferred to the acceptor end of tRNA(Thr).Also edits incorrectly charged tRNA(Thr) via its editing domain.{ECO:0000269|PubMed:26811336}. |
| 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 RIT1_TARS2 |
| 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 RIT1_TARS2 |
| 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 |
| RIT1 | RALGDS, PTN, LRIF1, MLLT4, RLF, VHL, NF2, KLHL12, ASB4, SRPK2, LZTR1, CAMKV, RIT2, MAD2L1BP | TARS2 | ICT1, CUL3, AHSA1, CDC37, CHORDC1, FKBPL, EGFR, NTRK1, COQ9, CISD3, C2orf47, PTPN18 |
| - 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 RIT1_TARS2 |
| 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 RIT1_TARS2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RIT1 | C3809233 | NOONAN SYNDROME 8 | 2 | UNIPROT |
| Hgene | RIT1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | TARS2 | C4014668 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 | 1 | ORPHANET;UNIPROT |
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