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Fusion Protein:ATP5I-CBX5 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ATP5I-CBX5 | FusionPDB ID: 7995 | FusionGDB2.0 ID: 7995 | Hgene | Tgene | Gene symbol | ATP5I | CBX5 | Gene ID | 521 | 23468 |
| Gene name | ATP synthase membrane subunit e | chromobox 5 | |
| Synonyms | ATP5I|ATP5K | HEL25|HP1|HP1A | |
| Cytomap | 4p16.3 | 12q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP synthase subunit e, mitochondrialATP synthase e chain, mitochondrialATP synthase, H+ transporting, mitochondrial F0 complex, subunit EATP synthase, H+ transporting, mitochondrial Fo complex subunit EATPase subunit eF1F0-ATP synthase, murine e sub | chromobox protein homolog 5HP1 alpha homologHP1-ALPHAHP1Hs alphaantigen p25chromobox homolog 5 (HP1 alpha homolog, Drosophila)epididymis luminal protein 25heterochromatin protein 1 homolog alphaheterochromatin protein 1-alpha | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9UII2 | P45973 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000506525, ENST00000304312, | ENST00000209875, ENST00000439541, ENST00000550411, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 9 X 9 X 4=324 | 9 X 9 X 4=324 |
| # samples | 12 | 9 | |
| ** MAII score | log2(12/324*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ATP5I [Title/Abstract] AND CBX5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ATP5I(667092)-CBX5(54635689), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ATP5I-CBX5 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. ATP5I-CBX5 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. ATP5I-CBX5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ATP5I-CBX5 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. ATP5I-CBX5 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. ATP5I-CBX5 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted 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 |
| Hgene | ATP5I | GO:0042776 | mitochondrial ATP synthesis coupled proton transport | 12110673 |
| Tgene | CBX5 | GO:0045892 | negative regulation of transcription, DNA-templated | 9636147 |
| Fusion gene breakpoints across ATP5I (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 CBX5 (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 | GBM | TCGA-27-2519-01A | ATP5I | chr4 | 667092 | - | CBX5 | chr12 | 54635689 | - |
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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) |
| ENST00000304312 | ATP5I | chr4 | 667092 | - | ENST00000209875 | CBX5 | chr12 | 54635689 | - | 11247 | 281 | 10446 | 10919 | 157 |
| 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 |
| ENST00000304312 | ENST00000209875 | ATP5I | chr4 | 667092 | - | CBX5 | chr12 | 54635689 | - | 0.5374655 | 0.46253452 |
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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 >7995_7995_1_ATP5I-CBX5_ATP5I_chr4_667092_ENST00000304312_CBX5_chr12_54635689_ENST00000209875_length(amino acids)=157AA_BP= MSSLSVCSLNLTLTFFPSGLRKLWTLFLLGQVWAQEPYSFHLSLGAQPAPLPNRALSAFPLLGPRFVIHEKAQGPGSLRSHSGSLCFVDS -------------------------------------------------------------- |
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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/chr4:667092/chr12:54635689) - 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 |
| ATP5I | CBX5 |
| FUNCTION: Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron into protoporphyrin IX to produce heme. {ECO:0000269|PubMed:12110673, ECO:0000269|PubMed:15528193, ECO:0000269|PubMed:19559621, ECO:0000269|PubMed:23135403}. | FUNCTION: Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins. {ECO:0000269|PubMed:19783980}. |
| 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 |
| - 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 |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000209875 | 3 | 5 | 11_14 | 141.66666666666666 | 192.0 | Compositional bias | Note=Poly-Ser | |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000439541 | 3 | 5 | 11_14 | 141.66666666666666 | 192.0 | Compositional bias | Note=Poly-Ser | |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000550411 | 3 | 5 | 11_14 | 141.66666666666666 | 192.0 | Compositional bias | Note=Poly-Ser | |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000209875 | 3 | 5 | 121_179 | 141.66666666666666 | 192.0 | Domain | Chromo 2%3B shadow subtype | |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000209875 | 3 | 5 | 20_78 | 141.66666666666666 | 192.0 | Domain | Chromo 1 | |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000439541 | 3 | 5 | 121_179 | 141.66666666666666 | 192.0 | Domain | Chromo 2%3B shadow subtype | |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000439541 | 3 | 5 | 20_78 | 141.66666666666666 | 192.0 | Domain | Chromo 1 | |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000550411 | 3 | 5 | 121_179 | 141.66666666666666 | 192.0 | Domain | Chromo 2%3B shadow subtype | |
| Tgene | CBX5 | chr4:667092 | chr12:54635689 | ENST00000550411 | 3 | 5 | 20_78 | 141.66666666666666 | 192.0 | Domain | Chromo 1 |
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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 |
| ATP5I | |
| CBX5 |
| - 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 ATP5I-CBX5 |
| 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 ATP5I-CBX5 |
| 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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