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Fusion gene ID: 12962 |
FusionGeneSummary for FARS2_RIPK1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: FARS2_RIPK1 | Fusion gene ID: 12962 | Hgene | Tgene | Gene symbol | FARS2 | RIPK1 | Gene ID | 10667 | 8737 |
Gene name | phenylalanyl-tRNA synthetase 2, mitochondrial | receptor interacting serine/threonine kinase 1 | |
Synonyms | COXPD14|FARS1|HSPC320|PheRS|SPG77 | RIP|RIP-1|RIP1 | |
Cytomap | 6p25.1 | 6p25.2 | |
Type of gene | protein-coding | protein-coding | |
Description | phenylalanine--tRNA ligase, mitochondrialdJ236A3.1 (phenylalanine-tRNA synthetase)dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase))mitochondrial PHERSphenylalanine tRNA ligase 2, mitochondrialphenylalanine translasephenylalanine-tRNA synthetase 1 ( | receptor-interacting serine/threonine-protein kinase 1cell death protein RIPreceptor (TNFRSF)-interacting serine-threonine kinase 1receptor-interacting protein 1receptor-interacting protein kinase 1serine/threonine-protein kinase RIP | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O95363 | Q13546 | |
Ensembl transtripts involved in fusion gene | ENST00000324331, ENST00000274680, | ENST00000479389, ENST00000259808, ENST00000541791, ENST00000380409, | |
Fusion gene scores | * DoF score | 13 X 7 X 10=910 | 2 X 2 X 2=8 |
# samples | 14 | 2 | |
** MAII score | log2(14/910*10)=-2.70043971814109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: FARS2 [Title/Abstract] AND RIPK1 [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 | FARS2 | GO:0006432 | phenylalanyl-tRNA aminoacylation | 10329163 |
Hgene | FARS2 | GO:0008033 | tRNA processing | 10329163 |
Tgene | RIPK1 | GO:0032757 | positive regulation of interleukin-8 production | 16127453 |
Tgene | RIPK1 | GO:0032760 | positive regulation of tumor necrosis factor production | 16127453 |
Tgene | RIPK1 | GO:0036289 | peptidyl-serine autophosphorylation | 23473668 |
Tgene | RIPK1 | GO:0043065 | positive regulation of apoptotic process | 8612133|17389591 |
Tgene | RIPK1 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 17389591 |
Tgene | RIPK1 | GO:0044257 | cellular protein catabolic process | 17389591 |
Tgene | RIPK1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16127453|17389591 |
Tgene | RIPK1 | GO:0046330 | positive regulation of JNK cascade | 17389591 |
Tgene | RIPK1 | GO:0046777 | protein autophosphorylation | 8612133 |
Tgene | RIPK1 | GO:0051260 | protein homooligomerization | 22817896 |
Tgene | RIPK1 | GO:0071356 | cellular response to tumor necrosis factor | 17389591 |
Tgene | RIPK1 | GO:0097191 | extrinsic apoptotic signaling pathway | 7538908 |
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-YJ-A8SW-01A | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
* 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 | ENST00000324331 | ENST00000479389 | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
5CDS-5UTR | ENST00000324331 | ENST00000259808 | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
5CDS-intron | ENST00000324331 | ENST00000541791 | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
5CDS-intron | ENST00000324331 | ENST00000380409 | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
5CDS-intron | ENST00000274680 | ENST00000479389 | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
5CDS-5UTR | ENST00000274680 | ENST00000259808 | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
5CDS-intron | ENST00000274680 | ENST00000541791 | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
5CDS-intron | ENST00000274680 | ENST00000380409 | FARS2 | chr6 | 5545573 | + | RIPK1 | chr6 | 3076998 | + |
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FusionProtFeatures for FARS2_RIPK1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
FARS2 | RIPK1 |
Is responsible for the charging of tRNA(Phe) withphenylalanine in mitochondrial translation. To a lesser extent,also catalyzes direct attachment of m-Tyr (an oxidized version ofPhe) to tRNA(Phe), thereby opening the way for delivery of themisacylated tRNA to the ribosome and incorporation of ROS-damagedamino acid into proteins. {ECO:0000269|PubMed:19549855,ECO:0000269|PubMed:22833457}. | Serine-threonine kinase which transduces inflammatoryand cell-death signals (programmed necrosis) following deathreceptors ligation, activation of pathogen recognition receptors(PRRs), and DNA damage. Upon activation of TNFR1 by the TNF-alphafamily cytokines, TRADD and TRAF2 are recruited to the receptor.Phosphorylates DAB2IP at 'Ser-728' in a TNF-alpha-dependentmanner, and thereby activates the MAP3K5-JNK apoptotic cascade.Ubiquitination by TRAF2 via 'Lys-63'-link chains acts as acritical enhancer of communication with downstream signaltransducers in the mitogen-activated protein kinase pathway andthe NF-kappa-B pathway, which in turn mediate downstream eventsincluding the activation of genes encoding inflammatory molecules.Polyubiquitinated protein binds to IKBKG/NEMO, the regulatorysubunit of the IKK complex, a critical event for NF-kappa-Bactivation. Interaction with other cellular RHIM-containingadapters initiates gene activation and cell death. RIPK1 and RIPK3association, in particular, forms a necrosis-inducing complex.{ECO:0000269|PubMed:11101870, ECO:0000269|PubMed:17389591,ECO:0000269|PubMed:19524512, ECO:0000269|PubMed:19524513}. |
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 FARS2_RIPK1 |
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 FARS2_RIPK1 |
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 |
FARS2 | USP45, G3BP2, ICT1, ISG15, CUL3, RCBTB2, KRT13, KRT31, TRIM27, TADA2A, TFCP2, MKRN3, STX11, CALCOCO2, MID2, IKZF3, APPL1, ADAMTSL4, AGTRAP, TRIM54, HMBOX1, CMTM5, KRT40, KRTAP10-7, KRTAP10-9, KRTAP10-5, KRTAP10-3, NOTCH2NL, ENO1, SHMT2, NXF1, HIST1H1A, ZC3H3, HNRNPA1, GAMT, STAT5A, TOMM40, CHST15, NEDD1, CHCHD2, MRPL38, HIST1H1E, HIST1H1T, ZCRB1 | RIPK1 | RIPK3, TICAM1, TRPC4AP, FAS, CRADD, TRAF2, FADD, RNF216, TNFRSF1A, TNFRSF10B, IKBKG, TRAF5, CFLAR, SQSTM1, CASP8, CASP10, EGFR, MAP3K14, TRADD, TRAF1, TRAF3, RNF11, TNFAIP3, TAX1BP1, ITCH, BIRC2, BIRC3, MAP3K7, TAB2, CYLD, HSP90AA1, PIDD1, CDC42BPB, TNF, USP21, PELI1, OPTN, XIAP, KHDRBS1, USP2, TNFRSF25, NOD2, RIPK2, IKBKB, RBCK1, USP4, TLR3, CCDC50, UBE2N, CLIP3, MAP3K3, DAB2IP, TNFRSF1B, RIPK1, ANXA1, CHUK, LRRK2, TNFSF10, MAP3K8, NUMBL, YOD1, OTUD1, RFFL, PYCARD, UBC, MLF1, NTAN1, FGL1, HERC2, AP1M2, XPO1, EGLN3, RNF31, ERN1, TRIM27, MLKL, ATG7, GPX7, THSD4, XAF1 |
- 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 FARS2_RIPK1 |
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 FARS2_RIPK1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FARS2 | C3554168 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 | 2 | ORPHANET;UNIPROT |