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Fusion gene ID: 38698 |
FusionGeneSummary for TMEM8A_GPX4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM8A_GPX4 | Fusion gene ID: 38698 | Hgene | Tgene | Gene symbol | TMEM8A | GPX4 | Gene ID | 58986 | 2879 |
| Gene name | transmembrane protein 8A | glutathione peroxidase 4 | |
| Synonyms | GPI-PLA2|M83|PGAP6|TMEM6|TMEM8 | GPx-4|GSHPx-4|MCSP|PHGPx|SMDS|snGPx|snPHGPx | |
| Cytomap | 16p13.3 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | post-GPI attachment to proteins factor 6GPI processing phospholipase A2five-span transmembrane protein M83post-glycosylphosphatidylinositol attachment to proteins 6transmembrane protein 6transmembrane protein 8 (five membrane-spanning domains) | phospholipid hydroperoxide glutathione peroxidasephospholipid hydroperoxidasephospholipid hydroperoxide glutathione peroxidase, mitochondrialsperm nucleus glutathione peroxidase | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9HCN3 | P36969 | |
| Ensembl transtripts involved in fusion gene | ENST00000431232, ENST00000250930, ENST00000476735, | ENST00000354171, ENST00000589115, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 3 X 3=36 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TMEM8A [Title/Abstract] AND GPX4 [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 |
| 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 | BI055467 | TMEM8A | chr16 | 421729 | - | GPX4 | chr19 | 1104923 | - |
| * 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-intron | ENST00000431232 | ENST00000354171 | TMEM8A | chr16 | 421729 | - | GPX4 | chr19 | 1104923 | - |
| intron-intron | ENST00000431232 | ENST00000589115 | TMEM8A | chr16 | 421729 | - | GPX4 | chr19 | 1104923 | - |
| intron-intron | ENST00000250930 | ENST00000354171 | TMEM8A | chr16 | 421729 | - | GPX4 | chr19 | 1104923 | - |
| intron-intron | ENST00000250930 | ENST00000589115 | TMEM8A | chr16 | 421729 | - | GPX4 | chr19 | 1104923 | - |
| intron-intron | ENST00000476735 | ENST00000354171 | TMEM8A | chr16 | 421729 | - | GPX4 | chr19 | 1104923 | - |
| intron-intron | ENST00000476735 | ENST00000589115 | TMEM8A | chr16 | 421729 | - | GPX4 | chr19 | 1104923 | - |
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FusionProtFeatures for TMEM8A_GPX4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM8A | GPX4 |
| Involved in the lipid remodeling steps of GPI-anchormaturation. Lipid remodeling steps consist in the generation of 2saturated fatty chains at the sn-2 position of GPI-anchor proteins(GPI-AP). Has phospholipase A2 activity that removes an acyl-chainat the sn-2 position of GPI-anchors during the remodeling of GPI.Required for the shedding of the GPI-AP TDGF1, but not CFC1, atthe cell surface. Shedding of TDGF1 modulates Nodal signaling byallowing soluble TDGF1 to act as a Nodal coreceptor on other cells(PubMed:27881714). Also indirectly involved in the translocationof RAC1 from the cytosol to the plasma membrane by maintaining thesteady state amount of CAV1-enriched plasma membrane subdomains,stabilizing RAC1 at the plasma membrane (PubMed:27835684). Incontrast to myomaker (TMEM8C), has no fusogenic activity(PubMed:26858401). {ECO:0000269|PubMed:26858401,ECO:0000269|PubMed:27835684, ECO:0000269|PubMed:27881714}. | Essential antioxidant peroxidase that directly reducesphospholipid hydroperoxide even if they are incorporated inmembranes and lipoproteins (By similarity). Can also reduce fattyacid hydroperoxide, cholesterol hydroperoxide and thyminehydroperoxide (By similarity). Plays a key role in protectingcells from oxidative damage by preventing membrane lipidperoxidation (By similarity). Required to prevent cells fromferroptosis, a non-apoptotic cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species(PubMed:24439385). The presence of selenocysteine (Sec) versus Cysat the active site is essential for life: it provides resistanceto overoxidation and prevents cells against ferroptosis (Bysimilarity). The presence of Sec at the active site is alsoessential for the survival of a specific type of parvalbumin-positive interneurons, thereby preventing against fatal epilepticseizures (By similarity). May be required to protect cells fromthe toxicity of ingested lipid hydroperoxides (By similarity).Required for normal sperm development and male fertility (Bysimilarity). Essential for maturation and survival ofphotoreceptor cells (By similarity). Plays a role in a primary T-cell response to viral and parasitic infection by protecting T-cells from ferroptosis and by supporting T-cell expansion (Bysimilarity). {ECO:0000250|UniProtKB:O70325,ECO:0000250|UniProtKB:P36968, ECO:0000269|PubMed:24439385}. |
| 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 TMEM8A_GPX4 |
| 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 TMEM8A_GPX4 |
| 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 TMEM8A_GPX4 |
| 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 |
| Tgene | GPX4 | P36969 | DB00143 | Glutathione | Phospholipid hydroperoxide glutathione peroxidase | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for TMEM8A_GPX4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GPX4 | C0021364 | Male infertility | 2 | CTD_human |
| Tgene | GPX4 | C0006635 | Cadmium poisoning | 1 | CTD_human |
| Tgene | GPX4 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | GPX4 | C0010417 | Cryptorchidism | 1 | CTD_human |
| Tgene | GPX4 | C0015695 | Fatty Liver | 1 | CTD_human |
| Tgene | GPX4 | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | GPX4 | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | GPX4 | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
| Tgene | GPX4 | C0752351 | Embryo Loss | 1 | CTD_human |
| Tgene | GPX4 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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