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Fusion Protein:RNF13-ATP8A2 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: RNF13-ATP8A2 | FusionPDB ID: 74793 | FusionGDB2.0 ID: 74793 | Hgene | Tgene | Gene symbol | RNF13 | ATP8A2 | Gene ID | 11342 | 51761 |
| Gene name | ring finger protein 13 | ATPase phospholipid transporting 8A2 | |
| Synonyms | EIEE73|RZF | ATP|ATPIB|CAMRQ4|IB|ML-1 | |
| Cytomap | 3q25.1 | 13q12.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF13RING zinc finger proteinRING-type E3 ubiquitin transferase RNF13 | phospholipid-transporting ATPase IBATPase, aminophospholipid transporter, class I, type 8A, member 2ATPase, aminophospholipid transporter-like, class I, type 8A, member 2P4-ATPase flippase complex alpha subunit ATP8A2probable phospholipid-transporting | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q8WVD3 | Q9NTI2 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000344229, ENST00000392894, ENST00000361785, | ENST00000491840, ENST00000255283, ENST00000381655, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 10 X 9 X 7=630 | 13 X 13 X 7=1183 |
| # samples | 13 | 15 | |
| ** MAII score | log2(13/630*10)=-2.27684020535882 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/1183*10)=-2.97941566784391 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: RNF13 [Title/Abstract] AND ATP8A2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RNF13(149570383)-ATP8A2(26273311), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | RNF13-ATP8A2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. RNF13-ATP8A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 breakpoints across RNF13 (5'-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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| Fusion gene breakpoints across ATP8A2 (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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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-A7-A4SE-01A | RNF13 | chr3 | 149570383 | - | ATP8A2 | chr13 | 26273311 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000392894 | RNF13 | chr3 | 149570383 | - | ENST00000381655 | ATP8A2 | chr13 | 26273311 | + | 8079 | 857 | 662 | 2212 | 516 |
| ENST00000392894 | RNF13 | chr3 | 149570383 | - | ENST00000255283 | ATP8A2 | chr13 | 26273311 | + | 2394 | 857 | 662 | 2137 | 491 |
| ENST00000344229 | RNF13 | chr3 | 149570383 | - | ENST00000381655 | ATP8A2 | chr13 | 26273311 | + | 8119 | 897 | 702 | 2252 | 516 |
| ENST00000344229 | RNF13 | chr3 | 149570383 | - | ENST00000255283 | ATP8A2 | chr13 | 26273311 | + | 2434 | 897 | 702 | 2177 | 491 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000392894 | ENST00000381655 | RNF13 | chr3 | 149570383 | - | ATP8A2 | chr13 | 26273311 | + | 0.000673992 | 0.999326 |
| ENST00000392894 | ENST00000255283 | RNF13 | chr3 | 149570383 | - | ATP8A2 | chr13 | 26273311 | + | 0.003653481 | 0.99634653 |
| ENST00000344229 | ENST00000381655 | RNF13 | chr3 | 149570383 | - | ATP8A2 | chr13 | 26273311 | + | 0.000728399 | 0.9992716 |
| ENST00000344229 | ENST00000255283 | RNF13 | chr3 | 149570383 | - | ATP8A2 | chr13 | 26273311 | + | 0.004145431 | 0.9958546 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >74793_74793_1_RNF13-ATP8A2_RNF13_chr3_149570383_ENST00000344229_ATP8A2_chr13_26273311_ENST00000255283_length(amino acids)=491AA_BP=65 MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKATRAAITQHCTDLGNLLGKENDVAL IIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDY AIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIEIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKVFWGHCIN ALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPD MRGQATMVLSSAHFWLGLFLVPTACLIEDVAWRAAKHTCKKTLLEEVQELETKSRVLGKAVLRDSNGKRLNERDRLIKRLGRKTPPTLFR -------------------------------------------------------------- >74793_74793_2_RNF13-ATP8A2_RNF13_chr3_149570383_ENST00000344229_ATP8A2_chr13_26273311_ENST00000381655_length(amino acids)=516AA_BP=65 MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKATRAAITQHCTDLGNLLGKENDVAL IIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDY AIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVNGFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLR FPQLYKITQNGEGFNTKVFWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVW GSMLTWLVFFGIYSTIWPTIPIAPDMRGQATMVLSSAHFWLGLFLVPTACLIEDVAWRAAKHTCKKTLLEEVQELETKSRVLGKAVLRDS -------------------------------------------------------------- >74793_74793_3_RNF13-ATP8A2_RNF13_chr3_149570383_ENST00000392894_ATP8A2_chr13_26273311_ENST00000255283_length(amino acids)=491AA_BP=65 MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKATRAAITQHCTDLGNLLGKENDVAL IIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDY AIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIEIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKVFWGHCIN ALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPD MRGQATMVLSSAHFWLGLFLVPTACLIEDVAWRAAKHTCKKTLLEEVQELETKSRVLGKAVLRDSNGKRLNERDRLIKRLGRKTPPTLFR -------------------------------------------------------------- >74793_74793_4_RNF13-ATP8A2_RNF13_chr3_149570383_ENST00000392894_ATP8A2_chr13_26273311_ENST00000381655_length(amino acids)=516AA_BP=65 MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKATRAAITQHCTDLGNLLGKENDVAL IIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDY AIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVNGFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLR FPQLYKITQNGEGFNTKVFWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVW GSMLTWLVFFGIYSTIWPTIPIAPDMRGQATMVLSSAHFWLGLFLVPTACLIEDVAWRAAKHTCKKTLLEEVQELETKSRVLGKAVLRDS -------------------------------------------------------------- |
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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/chr3:149570383/chr13:26273311) - 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 |
| RNF13 | ATP8A2 |
| FUNCTION: E3 ubiquitin-protein ligase involved in DNA damage response by promoting DNA resection and homologous recombination (PubMed:26502055, PubMed:26502057). Recruited to sites of double-strand breaks following DNA damage and specifically promotes double-strand break repair via homologous recombination (PubMed:26502055, PubMed:26502057). Two different, non-exclusive, mechanisms have been proposed. According to a report, regulates the choice of double-strand break repair by favoring homologous recombination over non-homologous end joining (NHEJ): acts by mediating ubiquitination of XRCC5/Ku80, leading to remove the Ku complex from DNA breaks, thereby promoting homologous recombination (PubMed:26502055). According to another report, cooperates with UBE2Ds E2 ubiquitin ligases (UBE2D1, UBE2D2, UBE2D3 or UBE2D4) to promote homologous recombination by mediating ubiquitination of RBBP8/CtIP (PubMed:26502057). Together with NLK, involved in the ubiquitination and degradation of TCF/LEF (PubMed:16714285). Also exhibits auto-ubiquitination activity in combination with UBE2K (PubMed:16714285). May act as a negative regulator in the Wnt/beta-catenin-mediated signaling pathway (PubMed:16714285). {ECO:0000269|PubMed:16714285, ECO:0000269|PubMed:26502055, ECO:0000269|PubMed:26502057}. | FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predominantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Phospholipid translocation is not associated with a countertransport of an inorganic ion or other charged substrate from the cytoplasmic side toward the exoplasm in connection with the phosphorylation from ATP. ATP8A2:TMEM30A may be involved in regulation of neurite outgrowth. Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival. {ECO:0000250|UniProtKB:C7EXK4}. |
| 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 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 |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 1019_1028 | 737.0 | 1189.0 | Topological domain | Cytoplasmic | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 1050_1063 | 737.0 | 1189.0 | Topological domain | Extracellular | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 1085_1188 | 737.0 | 1189.0 | Topological domain | Cytoplasmic | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 909_910 | 737.0 | 1189.0 | Topological domain | Extracellular | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 932_959 | 737.0 | 1189.0 | Topological domain | Cytoplasmic | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 981_997 | 737.0 | 1189.0 | Topological domain | Extracellular | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 1029_1049 | 737.0 | 1189.0 | Transmembrane | Helical | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 1064_1084 | 737.0 | 1189.0 | Transmembrane | Helical | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 888_908 | 737.0 | 1189.0 | Transmembrane | Helical | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 911_931 | 737.0 | 1189.0 | Transmembrane | Helical | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 960_980 | 737.0 | 1189.0 | Transmembrane | Helical | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 998_1018 | 737.0 | 1189.0 | Transmembrane | Helical |
| - 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 | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000344229 | - | 4 | 11 | 65_160 | 65.0 | 382.0 | Domain | Note=PA |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000392894 | - | 3 | 10 | 65_160 | 65.0 | 382.0 | Domain | Note=PA |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000344229 | - | 4 | 11 | 204_381 | 65.0 | 382.0 | Topological domain | Cytoplasmic |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000344229 | - | 4 | 11 | 35_182 | 65.0 | 382.0 | Topological domain | Lumenal |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000392894 | - | 3 | 10 | 204_381 | 65.0 | 382.0 | Topological domain | Cytoplasmic |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000392894 | - | 3 | 10 | 35_182 | 65.0 | 382.0 | Topological domain | Lumenal |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000344229 | - | 4 | 11 | 183_203 | 65.0 | 382.0 | Transmembrane | Helical |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000392894 | - | 3 | 10 | 183_203 | 65.0 | 382.0 | Transmembrane | Helical |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000344229 | - | 4 | 11 | 240_282 | 65.0 | 382.0 | Zinc finger | RING-type%3B atypical |
| Hgene | RNF13 | chr3:149570383 | chr13:26273311 | ENST00000392894 | - | 3 | 10 | 240_282 | 65.0 | 382.0 | Zinc finger | RING-type%3B atypical |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 116_119 | 737.0 | 1189.0 | Topological domain | Extracellular | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 141_316 | 737.0 | 1189.0 | Topological domain | Cytoplasmic | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 1_94 | 737.0 | 1189.0 | Topological domain | Cytoplasmic | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 338_364 | 737.0 | 1189.0 | Topological domain | Extracellular | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 386_887 | 737.0 | 1189.0 | Topological domain | Cytoplasmic | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 120_140 | 737.0 | 1189.0 | Transmembrane | Helical | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 317_337 | 737.0 | 1189.0 | Transmembrane | Helical | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 365_385 | 737.0 | 1189.0 | Transmembrane | Helical | |
| Tgene | ATP8A2 | chr3:149570383 | chr13:26273311 | ENST00000381655 | 23 | 37 | 95_115 | 737.0 | 1189.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| RNF13 | |
| ATP8A2 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to RNF13-ATP8A2 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to RNF13-ATP8A2 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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