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Fusion gene ID: 11228 |
FusionGeneSummary for EIF2S1_STX12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EIF2S1_STX12 | Fusion gene ID: 11228 | Hgene | Tgene | Gene symbol | EIF2S1 | STX12 | Gene ID | 1965 | 23673 |
| Gene name | eukaryotic translation initiation factor 2 subunit alpha | syntaxin 12 | |
| Synonyms | EIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2A | STX13|STX14 | |
| Cytomap | 14q23.3 | 1p35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | eukaryotic translation initiation factor 2 subunit 1eIF-2-alphaeukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa | syntaxin-12 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P05198 | Q86Y82 | |
| Ensembl transtripts involved in fusion gene | ENST00000256383, ENST00000466499, | ENST00000373943, ENST00000468761, | |
| Fusion gene scores | * DoF score | 4 X 5 X 4=80 | 3 X 3 X 1=9 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EIF2S1 [Title/Abstract] AND STX12 [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 |
| Tgene | STX12 | GO:0033344 | cholesterol efflux | 15469992 |
| Tgene | STX12 | GO:0050821 | protein stabilization | 15469992 |
| 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 |
| ChiTaRS3.1 | AI114762 | EIF2S1 | chr14 | 67831509 | + | STX12 | chr1 | 28149343 | + |
| * 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-3UTR | ENST00000256383 | ENST00000373943 | EIF2S1 | chr14 | 67831509 | + | STX12 | chr1 | 28149343 | + |
| 5CDS-intron | ENST00000256383 | ENST00000468761 | EIF2S1 | chr14 | 67831509 | + | STX12 | chr1 | 28149343 | + |
| 5CDS-3UTR | ENST00000466499 | ENST00000373943 | EIF2S1 | chr14 | 67831509 | + | STX12 | chr1 | 28149343 | + |
| 5CDS-intron | ENST00000466499 | ENST00000468761 | EIF2S1 | chr14 | 67831509 | + | STX12 | chr1 | 28149343 | + |
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FusionProtFeatures for EIF2S1_STX12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EIF2S1 | STX12 |
| Functions in the early steps of protein synthesis byforming a ternary complex with GTP and initiator tRNA. Thiscomplex binds to a 40S ribosomal subunit, followed by mRNA bindingto form a 43S pre-initiation complex. Junction of the 60Sribosomal subunit to form the 80S initiation complex is precededby hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyzeanother round of initiation, the GDP bound to eIF-2 must exchangewith GTP by way of a reaction catalyzed by eIF-2B. | SNARE that acts to regulate protein transport betweenlate endosomes and the trans-Golgi network. The SNARE complexcontaining STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion(in vitro) (By similarity). Through complex formation with GRIP1,GRIA2 and NSG1 controls the intracellular fate of AMPAR and theendosomal sorting of the GRIA2 subunit toward recycling andmembrane targeting (By similarity). {ECO:0000250,ECO:0000250|UniProtKB:G3V7P1}. |
| 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 EIF2S1_STX12 |
| 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 EIF2S1_STX12 |
| 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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RelatedDrugs for EIF2S1_STX12 |
| 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 EIF2S1_STX12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EIF2S1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Hgene | EIF2S1 | C0009241 | Cognition Disorders | 1 | CTD_human |
| Hgene | EIF2S1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Hgene | EIF2S1 | C0029463 | Osteosarcoma | 1 | CTD_human |
| Hgene | EIF2S1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | EIF2S1 | C0038220 | Status Epilepticus | 1 | CTD_human |
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