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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:EIF2AK1-AIMP2 (FusionGDB2 ID:25648) |
Fusion Gene Summary for EIF2AK1-AIMP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EIF2AK1-AIMP2 | Fusion gene ID: 25648 | Hgene | Tgene | Gene symbol | EIF2AK1 | AIMP2 | Gene ID | 27102 | 7965 |
| Gene name | eukaryotic translation initiation factor 2 alpha kinase 1 | aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | |
| Synonyms | HCR|HRI | HLD17|JTV-1|JTV1|P38 | |
| Cytomap | 7p22.1 | 7p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | eukaryotic translation initiation factor 2-alpha kinase 1heme regulated initiation factor 2 alpha kinaseheme sensitive initiation factor 2a kinaseheme-controlled repressorheme-regulated eukaryotic initiation factor eIF-2-alpha kinaseheme-regulated in | aminoacyl tRNA synthase complex-interacting multifunctional protein 2ARS-interacting multi-functional protein 2multisynthase complex auxiliary component p38multisynthetase complex auxiliary component p38protein JTV-1 | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q9BQI3 | Q13155 | |
| Ensembl transtripts involved in fusion gene | ENST00000199389, ENST00000495565, ENST00000536084, | ENST00000223029, ENST00000395236, ENST00000400479, | |
| Fusion gene scores | * DoF score | 11 X 8 X 8=704 | 7 X 6 X 5=210 |
| # samples | 11 | 7 | |
| ** MAII score | log2(11/704*10)=-2.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EIF2AK1 [Title/Abstract] AND AIMP2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | AIMP2(6063342)-EIF2AK1(6064102), # samples:1 AIMP2(6062392)-EIF2AK1(6063655), # samples:1 AIMP2(6063282)-EIF2AK1(6064169), # samples:1 AIMP2(6063376)-EIF2AK1(6064098), # samples:1 AIMP2(6063167)-EIF2AK1(6063690), # samples:1 AIMP2(6063465)-EIF2AK1(6064000), # samples:1 AIMP2(6063382)-EIF2AK1(6064216), # samples:1 AIMP2(6062777)-EIF2AK1(6064078), # samples:1 AIMP2(6062843)-EIF2AK1(6063794), # samples:1 AIMP2(6063015)-EIF2AK1(6063594), # samples:1 AIMP2(6063019)-EIF2AK1(6063525), # samples:1 AIMP2(6063101)-EIF2AK1(6064147), # samples:1 AIMP2(6063222)-EIF2AK1(6063698), # samples:1 AIMP2(6063267)-EIF2AK1(6063974), # samples:1 AIMP2(6057587)-EIF2AK1(6063849), # samples:1 AIMP2(6063233)-EIF2AK1(6064142), # samples:1 AIMP2(6062773)-EIF2AK1(6063699), # samples:1 AIMP2(6062863)-EIF2AK1(6063606), # samples:1 AIMP2(6063287)-EIF2AK1(6064162), # samples:1 AIMP2(6063022)-EIF2AK1(6063468), # samples:1 AIMP2(6063440)-EIF2AK1(6063978), # samples:1 AIMP2(6063290)-EIF2AK1(6064368), # samples:1 AIMP2(6062821)-EIF2AK1(6064320), # samples:1 AIMP2(6057675)-EIF2AK1(6064431), # samples:1 AIMP2(6063282)-EIF2AK1(6064405), # samples:1 AIMP2(6063141)-EIF2AK1(6062541), # samples:1 EIF2AK1(6062934)-AIMP2(6063143), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | AIMP2-EIF2AK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. AIMP2-EIF2AK1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. AIMP2-EIF2AK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. AIMP2-EIF2AK1 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. | ||
| * 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 | EIF2AK1 | GO:1990641 | response to iron ion starvation | 11036079 |
| Fusion gene breakpoints across EIF2AK1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across AIMP2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | AA641039 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
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Fusion Gene ORF analysis for EIF2AK1-AIMP2 |
| 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-3CDS | ENST00000199389 | ENST00000223029 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| intron-3CDS | ENST00000199389 | ENST00000395236 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| intron-3CDS | ENST00000199389 | ENST00000400479 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| intron-3CDS | ENST00000495565 | ENST00000223029 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| intron-3CDS | ENST00000495565 | ENST00000395236 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| intron-3CDS | ENST00000495565 | ENST00000400479 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| intron-3CDS | ENST00000536084 | ENST00000223029 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| intron-3CDS | ENST00000536084 | ENST00000395236 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| intron-3CDS | ENST00000536084 | ENST00000400479 | EIF2AK1 | chr7 | 6062934 | - | AIMP2 | chr7 | 6063143 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for EIF2AK1-AIMP2 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for EIF2AK1-AIMP2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:6063342/:6064102) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EIF2AK1 | AIMP2 |
| FUNCTION: Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions (PubMed:32132706, PubMed:32132707). Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as heme deficiency, oxidative stress, osmotic shock, mitochondrial dysfunction and heat shock (PubMed:32132706, PubMed:32132707). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming (PubMed:32132706, PubMed:32132707). Acts as a key sensor of heme-deficiency: in normal conditions, binds hemin via a cysteine thiolate and histidine nitrogenous coordination, leading to inhibit the protein kinase activity (By similarity). This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell: heme depletion relieves inhibition and stimulates kinase activity, activating the ISR (By similarity). Thanks to this unique heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions (By similarity). In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of its heme and globin moieties (By similarity). It thereby plays an essential protective role for RBC survival in anemias of iron deficiency (By similarity). Similarly, in hepatocytes, involved in heme-mediated translational control of CYP2B and CYP3A and possibly other hepatic P450 cytochromes (By similarity). May also regulate endoplasmic reticulum (ER) stress during acute heme-deficient conditions (By similarity). Also activates the ISR in response to mitochondrial dysfunction: HRI/EIF2AK1 protein kinase activity is activated upon binding to the processed form of DELE1 (S-DELE1), thereby promoting the ATF4-mediated reprogramming (PubMed:32132706, PubMed:32132707). {ECO:0000250|UniProtKB:Q9Z2R9, ECO:0000269|PubMed:32132706, ECO:0000269|PubMed:32132707, ECO:0000269|PubMed:32197074}. | FUNCTION: Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor. {ECO:0000269|PubMed:16135753, ECO:0000269|PubMed:19131329}. |
| 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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Fusion Gene Sequence for EIF2AK1-AIMP2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for EIF2AK1-AIMP2 |
| 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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Related Drugs for EIF2AK1-AIMP2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for EIF2AK1-AIMP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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