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Kinase Fusion Gene:EIF2AK3_HNRNPLL |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: EIF2AK3_HNRNPLL | KinaseFusionDB ID: KFG1916 | FusionGDB2.0 ID: KFG1916 | Hgene | Tgene | Gene symbol | EIF2AK3 | HNRNPLL | Gene ID | 9451 | 92906 | |
| Gene name | eukaryotic translation initiation factor 2 alpha kinase 3 | heterogeneous nuclear ribonucleoprotein L like | ||||||||||
| Synonyms | PEK|PERK|WRS | HNRPLL|SRRF | ||||||||||
| Cytomap | 2p11.2 | 2p22.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | eukaryotic translation initiation factor 2-alpha kinase 3PKR-like ER kinasePRKR-like endoplasmic reticulum kinasepancreatic EIF2-alpha kinasepancreatic eIF-2alpha kinase | heterogeneous nuclear ribonucleoprotein L-likestromal RNA regulating factor | ||||||||||
| Modification date | 20240407 | 20240403 | ||||||||||
| UniProtAcc | Q9NZJ5 | Q8WVV9 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000419748, ENST00000303236, ENST00000470706, | ENST00000449105, ENST00000409636, ENST00000378915, ENST00000608859, ENST00000409328, ENST00000358367, ENST00000410076, ENST00000498516, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: EIF2AK3 [Title/Abstract] AND HNRNPLL [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ||||||||||||
| 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 | EIF2AK3 | GO:0006983 | ER overload response | 10677345|11907036 |
| Hgene | EIF2AK3 | GO:0030968 | endoplasmic reticulum unfolded protein response | 10677345|11907036|22169477 |
| Hgene | EIF2AK3 | GO:0046777 | protein autophosphorylation | 10026192|11907036 |
| Tgene | HNRNPLL | GO:0033120 | positive regulation of RNA splicing | 18669861 |
| Kinase Fusion gene breakpoints across EIF2AK3 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across HNRNPLL (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| CCLE | HCC2450 | EIF2AK3 | chr2 | 88913242 | HNRNPLL | chr2 | 38818790 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:/chr2:) - 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 |
| EIF2AK3 | HNRNPLL |
| 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. Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as unfolded protein response (UPR) and low amino acid availability (By similarity). 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 activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming (PubMed:33384352). Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1). Involved in control of mitochondrial morphology and function (By similarity). {ECO:0000250|UniProtKB:Q9Z2B5, ECO:0000269|PubMed:33384352}. | FUNCTION: RNA-binding protein that functions as a regulator of alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A. Required for alternative splicing of PTPRC. {ECO:0000269|PubMed:18669861}. |
| 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. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of EIF2AK3_HNRNPLL |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| EIF2AK3 | Q9NZJ5 | human | FBP1 | P09467 | S170 | AGYALYGsATMLVLA | |
| EIF2AK3 | Q9NZJ5 | human | EIF2AK3 | Q9NZJ5 | T982 | MPAYARHtGQVGTKL | Pkinase |
| EIF2AK3 | Q9NZJ5 | human | EIF2S1 | P05198 | S49 | IEGMILLsELsRRRI | S1 |
| EIF2AK3 | Q9NZJ5 | human | EIF2S1 | P05198 | S52 | MILLsELsRRRIRsI | S1 |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| EIF2AK3 | ID | Description | 0.00e+00 |
| EIF2AK3 | GO:0071287 | cellular response to manganese ion | 6.21e-05 |
| EIF2AK3 | GO:0036490 | regulation of translation in response to endoplasmic reticulum stress | 6.21e-05 |
| EIF2AK3 | GO:0071248 | cellular response to metal ion | 6.21e-05 |
| EIF2AK3 | GO:0043558 | regulation of translational initiation in response to stress | 6.21e-05 |
| EIF2AK3 | GO:0071241 | cellular response to inorganic substance | 6.21e-05 |
| EIF2AK3 | GO:0010042 | response to manganese ion | 6.48e-05 |
| EIF2AK3 | GO:0036499 | PERK-mediated unfolded protein response | 6.48e-05 |
| EIF2AK3 | GO:0043555 | regulation of translation in response to stress | 7.61e-05 |
| EIF2AK3 | GO:0045947 | negative regulation of translational initiation | 7.61e-05 |
| EIF2AK3 | GO:0062197 | cellular response to chemical stress | 8.27e-05 |
| EIF2AK3 | GO:0010038 | response to metal ion | 1.09e-04 |
| EIF2AK3 | GO:0140467 | integrated stress response signaling | 2.12e-04 |
| EIF2AK3 | GO:0006984 | ER-nucleus signaling pathway | 2.26e-04 |
| EIF2AK3 | GO:0031667 | response to nutrient levels | 2.26e-04 |
| EIF2AK3 | GO:0034198 | cellular response to amino acid starvation | 2.52e-04 |
| EIF2AK3 | GO:1990928 | response to amino acid starvation | 2.65e-04 |
| EIF2AK3 | GO:0030968 | endoplasmic reticulum unfolded protein response | 4.83e-04 |
| EIF2AK3 | GO:0006446 | regulation of translational initiation | 5.59e-04 |
| EIF2AK3 | GO:0034620 | cellular response to unfolded protein | 6.09e-04 |
| EIF2AK3 | GO:0035967 | cellular response to topologically incorrect protein | 8.70e-04 |
| EIF2AK3 | GO:0006413 | translational initiation | 1.06e-03 |
| EIF2AK3 | GO:0006986 | response to unfolded protein | 1.25e-03 |
| EIF2AK3 | GO:0035966 | response to topologically incorrect protein | 1.61e-03 |
| EIF2AK3 | GO:0009266 | response to temperature stimulus | 1.79e-03 |
| EIF2AK3 | GO:0009267 | cellular response to starvation | 1.88e-03 |
| EIF2AK3 | GO:0042594 | response to starvation | 2.68e-03 |
| EIF2AK3 | GO:0031669 | cellular response to nutrient levels | 3.42e-03 |
| EIF2AK3 | GO:0034976 | response to endoplasmic reticulum stress | 3.70e-03 |
| EIF2AK3 | GO:0031668 | cellular response to extracellular stimulus | 3.98e-03 |
| EIF2AK3 | GO:0017148 | negative regulation of translation | 4.90e-03 |
| EIF2AK3 | GO:0071214 | cellular response to abiotic stimulus | 5.09e-03 |
| EIF2AK3 | GO:0104004 | cellular response to environmental stimulus | 5.09e-03 |
| EIF2AK3 | GO:0034249 | negative regulation of amide metabolic process | 5.14e-03 |
| EIF2AK3 | GO:0071496 | cellular response to external stimulus | 5.14e-03 |
| EIF2AK3 | GO:0010998 | regulation of translational initiation by eIF2 alpha phosphorylation | 7.17e-03 |
| EIF2AK3 | GO:0042538 | hyperosmotic salinity response | 7.17e-03 |
| EIF2AK3 | GO:0097050 | type B pancreatic cell apoptotic process | 7.17e-03 |
| EIF2AK3 | GO:1904627 | response to phorbol 13-acetate 12-myristate | 7.17e-03 |
| EIF2AK3 | GO:1904628 | cellular response to phorbol 13-acetate 12-myristate | 7.17e-03 |
| EIF2AK3 | GO:0006002 | fructose 6-phosphate metabolic process | 7.32e-03 |
| EIF2AK3 | GO:0006983 | ER overload response | 7.32e-03 |
| EIF2AK3 | GO:0071476 | cellular hypotonic response | 7.32e-03 |
| EIF2AK3 | GO:0005984 | disaccharide metabolic process | 7.80e-03 |
| EIF2AK3 | GO:0006971 | hypotonic response | 8.08e-03 |
| EIF2AK3 | GO:0070417 | cellular response to cold | 8.08e-03 |
| EIF2AK3 | GO:0006000 | fructose metabolic process | 8.33e-03 |
| EIF2AK3 | GO:0071472 | cellular response to salt stress | 8.33e-03 |
| EIF2AK3 | GO:0031645 | negative regulation of nervous system process | 9.32e-03 |
| EIF2AK3 | GO:0045820 | negative regulation of glycolytic process | 1.03e-02 |
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Related Drugs to EIF2AK3_HNRNPLL |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning EIF2AK3-HNRNPLL and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to EIF2AK3_HNRNPLL |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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