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Fusion gene ID: 11203 |
FusionGeneSummary for EIF2AK3_NBAS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EIF2AK3_NBAS | Fusion gene ID: 11203 | Hgene | Tgene | Gene symbol | EIF2AK3 | NBAS | Gene ID | 9451 | 51594 |
| Gene name | eukaryotic translation initiation factor 2 alpha kinase 3 | neuroblastoma amplified sequence | |
| Synonyms | PEK|PERK|WRS | ILFS2|NAG|SOPH | |
| Cytomap | 2p11.2 | 2p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | eukaryotic translation initiation factor 2-alpha kinase 3PRKR-like endoplasmic reticulum kinasepancreatic EIF2-alpha kinase | neuroblastoma-amplified sequenceNAG/BC035112 fusionNAG/FAM49A fusionneuroblastoma-amplified gene protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9NZJ5 | A2RRP1 | |
| Ensembl transtripts involved in fusion gene | ENST00000419748, ENST00000303236, ENST00000470706, | ENST00000441750, ENST00000281513, | |
| Fusion gene scores | * DoF score | 3 X 4 X 2=24 | 8 X 9 X 3=216 |
| # samples | 4 | 9 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EIF2AK3 [Title/Abstract] AND NBAS [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 | 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 |
| 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 | SKCM | TCGA-DA-A95Y-06A | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15564592 | - |
| TCGA | LD | SKCM | TCGA-DA-A95Y-06A | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15567918 | - |
| * 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-3CDS | ENST00000419748 | ENST00000441750 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15564592 | - |
| intron-3CDS | ENST00000419748 | ENST00000281513 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15564592 | - |
| Frame-shift | ENST00000303236 | ENST00000441750 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15564592 | - |
| Frame-shift | ENST00000303236 | ENST00000281513 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15564592 | - |
| intron-3CDS | ENST00000470706 | ENST00000441750 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15564592 | - |
| intron-3CDS | ENST00000470706 | ENST00000281513 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15564592 | - |
| intron-3CDS | ENST00000419748 | ENST00000441750 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15567918 | - |
| intron-3CDS | ENST00000419748 | ENST00000281513 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15567918 | - |
| Frame-shift | ENST00000303236 | ENST00000441750 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15567918 | - |
| Frame-shift | ENST00000303236 | ENST00000281513 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15567918 | - |
| intron-3CDS | ENST00000470706 | ENST00000441750 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15567918 | - |
| intron-3CDS | ENST00000470706 | ENST00000281513 | EIF2AK3 | chr2 | 88926485 | - | NBAS | chr2 | 15567918 | - |
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FusionProtFeatures for EIF2AK3_NBAS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EIF2AK3 | NBAS |
| Metabolic-stress sensing protein kinase thatphosphorylates the alpha subunit of eukaryotic translationinitiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' during theunfolded protein response (UPR) and in response to low amino acidavailability. Converts phosphorylated eIF-2-alpha/EIF2S1 either ina global protein synthesis inhibitor, leading to a reduced overallutilization of amino acids, or to a translation initiationactivator of specific mRNAs, such as the transcriptional activatorATF4, and hence allowing ATF4-mediated reprogramming of amino acidbiosynthetic gene expression to alleviate nutrient depletion.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.{ECO:0000250|UniProtKB:Q9Z2B5}. | Involved in Golgi-to-endoplasmic reticulum (ER)retrograde transport; the function is proposed to depend on itsassociation in the NRZ complex which is believed to play a role inSNARE assembly at the ER (PubMed:19369418).{ECO:0000269|PubMed:19369418, ECO:0000305}. |
| 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 EIF2AK3_NBAS |
| 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 EIF2AK3_NBAS |
| 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 |
| EIF2AK3 | NFE2L2, DNAJC3, HSP90AA1, HSPA5, HSP90B1, BCL6, RHBDL3, EIF2S1, COPS5, SUZ12, HLA-DRA, HLA-C, OGFOD3, GLT8D2, HLA-E, CHRNA9, TCTN3, TMEM216, FOXK1, FOXK2, TRAF1, RPN2, DLK2, B4GAT1, SCN3B, P2RX2, CHRND, ASIC4, PCDHGB4, TMPRSS3, PCDHA4, HLA-DRB1, PCDHA12, TGIF2LY, NCEH1, PCDH20, VAPA, SFTPC, PCDHB11, ASIC1, ARSG, GRIA3, ILF3, ILF2 | NBAS | VTI1B, STX6, USE1, STX12, NAPG, STX18, HSPB1, NTRK1, AK1, DVL2, RINT1, SCFD2, SEC22B, VAMP4, TEX28 |
| - 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 EIF2AK3_NBAS |
| 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 EIF2AK3_NBAS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EIF2AK3 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | EIF2AK3 | C0038868 | Progressive supranuclear palsy | 1 | CTD_human |
| Hgene | EIF2AK3 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | EIF2AK3 | C0432217 | Wolcott-Rallison syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | NBAS | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | NBAS | C3541319 | SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | 1 | ORPHANET;UNIPROT |
| Tgene | NBAS | C3809651 | INFANTILE LIVER FAILURE SYNDROME 2 | 1 | ORPHANET;UNIPROT |
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