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Fusion gene ID: 25639 |
FusionGeneSummary for OXA1L_OXA1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: OXA1L_OXA1L | Fusion gene ID: 25639 | Hgene | Tgene | Gene symbol | OXA1L | OXA1L | Gene ID | 5018 | 5018 |
| Gene name | OXA1L, mitochondrial inner membrane protein | OXA1L, mitochondrial inner membrane protein | |
| Synonyms | OXA1 | OXA1 | |
| Cytomap | 14q11.2 | 14q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial inner membrane protein OXA1LOXA1-like proteinoxidase (cytochrome c) assembly 1-like | mitochondrial inner membrane protein OXA1LOXA1-like proteinoxidase (cytochrome c) assembly 1-like | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q15070 | Q15070 | |
| Ensembl transtripts involved in fusion gene | ENST00000285848, ENST00000604262, ENST00000412791, ENST00000358043, | ENST00000285848, ENST00000604262, ENST00000412791, ENST00000358043, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: OXA1L [Title/Abstract] AND OXA1L [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 | OXA1L | GO:0051262 | protein tetramerization | 20601428|20739282 |
| Tgene | OXA1L | GO:0051262 | protein tetramerization | 20601428|20739282 |
| 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 | BG763334 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| * 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 |
| In-frame | ENST00000285848 | ENST00000285848 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000285848 | ENST00000604262 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000285848 | ENST00000412791 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000285848 | ENST00000358043 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000604262 | ENST00000285848 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000604262 | ENST00000604262 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000604262 | ENST00000412791 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000604262 | ENST00000358043 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000412791 | ENST00000285848 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000412791 | ENST00000604262 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000412791 | ENST00000412791 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000412791 | ENST00000358043 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000358043 | ENST00000285848 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000358043 | ENST00000604262 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000358043 | ENST00000412791 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
| In-frame | ENST00000358043 | ENST00000358043 | OXA1L | chr14 | 23239488 | + | OXA1L | chr14 | 23237169 | + |
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FusionProtFeatures for OXA1L_OXA1L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| OXA1L | OXA1L |
| Required for the insertion of integral membrane proteinsinto the mitochondrial inner membrane. Essential for the activityand assembly of cytochrome oxidase. Required for the correctbiogenesis of ATP synthase and complex I in mitochondria.{ECO:0000269|PubMed:17936786, ECO:0000269|PubMed:7991568}. | Required for the insertion of integral membrane proteinsinto the mitochondrial inner membrane. Essential for the activityand assembly of cytochrome oxidase. Required for the correctbiogenesis of ATP synthase and complex I in mitochondria.{ECO:0000269|PubMed:17936786, ECO:0000269|PubMed:7991568}. |
| 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 |
| Hgene | OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 135_139 | 207 | 420 | Topological domain | Mitochondrial matrix |
| Hgene | OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 1_113 | 207 | 420 | Topological domain | Mitochondrial intermembrane |
| Hgene | OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 114_134 | 207 | 420 | Transmembrane | Helical |
| Hgene | OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 140_160 | 207 | 420 | Transmembrane | Helical |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 135_139 | 59 | 420 | Topological domain | Mitochondrial matrix |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 161_212 | 59 | 420 | Topological domain | Mitochondrial intermembrane |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 234_260 | 59 | 420 | Topological domain | Mitochondrial matrix |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 282_299 | 59 | 420 | Topological domain | Mitochondrial intermembrane |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 321_435 | 59 | 420 | Topological domain | Mitochondrial matrix |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 114_134 | 59 | 420 | Transmembrane | Helical |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 140_160 | 59 | 420 | Transmembrane | Helical |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 213_233 | 59 | 420 | Transmembrane | Helical |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 261_281 | 59 | 420 | Transmembrane | Helical |
| Tgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 300_320 | 59 | 420 | Transmembrane | Helical |
| - 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 |
| Hgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 161_212 | 207 | 420 | Topological domain | Mitochondrial intermembrane |
| Hgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 234_260 | 207 | 420 | Topological domain | Mitochondrial matrix |
| Hgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 282_299 | 207 | 420 | Topological domain | Mitochondrial intermembrane |
| Hgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 321_435 | 207 | 420 | Topological domain | Mitochondrial matrix |
| Hgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 213_233 | 207 | 420 | Transmembrane | Helical |
| Hgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 261_281 | 207 | 420 | Transmembrane | Helical |
| Hgene | >OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 5 | 10 | 300_320 | 207 | 420 | Transmembrane | Helical |
| Tgene | OXA1L | chr14:23239488 | chr14:23237169 | ENST00000358043 | + | 1 | 10 | 1_113 | 59 | 420 | Topological domain | Mitochondrial intermembrane |
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FusionGeneSequence for OXA1L_OXA1L |
| 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 OXA1L_OXA1L |
| 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 |
| OXA1L | OXA1L, MRPL13, MRPL20, MRPL28, MRPL48, MRPL49, MRPL51, ICT1, ABCC2, RHOT2, TOMM40, SDHB, FAF2, IKBIP, MRPL23, ATP5B, CBLC, MOV10, NXF1, ILK, FRMD3, MRPL50, GAN, NDUFA4, COQ9, PTPMT1, CHCHD10, EYA2, MTM1, TTC30B, TRIM25 | OXA1L | OXA1L, MRPL13, MRPL20, MRPL28, MRPL48, MRPL49, MRPL51, ICT1, ABCC2, RHOT2, TOMM40, SDHB, FAF2, IKBIP, MRPL23, ATP5B, CBLC, MOV10, NXF1, ILK, FRMD3, MRPL50, GAN, NDUFA4, COQ9, PTPMT1, CHCHD10, EYA2, MTM1, TTC30B, TRIM25 |
| - 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 OXA1L_OXA1L |
| 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 OXA1L_OXA1L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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