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Fusion Protein:GOLGA8A-DDB2 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: GOLGA8A-DDB2 | FusionPDB ID: 33925 | FusionGDB2.0 ID: 33925 | Hgene | Tgene | Gene symbol | GOLGA8A | DDB2 | Gene ID | 23015 | 1643 |
| Gene name | golgin A8 family member A | damage specific DNA binding protein 2 | |
| Synonyms | CFAP286|FAP286|GM88|GOLGA8B | DDBB|UV-DDB2|XPE | |
| Cytomap | 15q14 | 11p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | golgin subfamily A member 8A88 kDa Golgi matrix protein88-kDa golgi proteinGM88 autoantigenGolgin subfamily A member 8Bgolgi autoantigen, golgin subfamily a, 8Agolgin-67 | DNA damage-binding protein 2DDB p48 subunitUV-DDB 2UV-damaged DNA-binding protein 2damage-specific DNA binding protein 2, 48kDaxeroderma pigmentosum group E protein | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | A7E2F4 | Q92466 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000359187, ENST00000360553, ENST00000432566, ENST00000543376, ENST00000565885, | ENST00000378601, ENST00000256996, ENST00000378600, ENST00000378603, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 6 X 5 X 4=120 | 12 X 6 X 7=504 |
| # samples | 6 | 11 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/504*10)=-2.19592020997526 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: GOLGA8A [Title/Abstract] AND DDB2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | GOLGA8A(34680033)-DDB2(47259387), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | GOLGA8A-DDB2 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. GOLGA8A-DDB2 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. GOLGA8A-DDB2 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. GOLGA8A-DDB2 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. GOLGA8A-DDB2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. GOLGA8A-DDB2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. GOLGA8A-DDB2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. GOLGA8A-DDB2 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 |
| Tgene | DDB2 | GO:0000209 | protein polyubiquitination | 12732143 |
| Tgene | DDB2 | GO:0009411 | response to UV | 12732143 |
| Tgene | DDB2 | GO:0035518 | histone H2A monoubiquitination | 22334663 |
| Tgene | DDB2 | GO:0051865 | protein autoubiquitination | 12732143 |
| Tgene | DDB2 | GO:0070914 | UV-damage excision repair | 22334663 |
| Fusion gene breakpoints across GOLGA8A (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 DDB2 (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 | ESCA | TCGA-L5-A8NM | GOLGA8A | chr15 | 34680033 | - | DDB2 | chr11 | 47259387 | + |
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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) |
| ENST00000359187 | GOLGA8A | chr15 | 34680033 | - | ENST00000378600 | DDB2 | chr11 | 47259387 | + | 861 | 233 | 26 | 493 | 155 |
| ENST00000359187 | GOLGA8A | chr15 | 34680033 | - | ENST00000378603 | DDB2 | chr11 | 47259387 | + | 861 | 233 | 26 | 493 | 155 |
| ENST00000359187 | GOLGA8A | chr15 | 34680033 | - | ENST00000256996 | DDB2 | chr11 | 47259387 | + | 861 | 233 | 26 | 493 | 155 |
| 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 |
| ENST00000359187 | ENST00000378600 | GOLGA8A | chr15 | 34680033 | - | DDB2 | chr11 | 47259387 | + | 0.01609363 | 0.9839064 |
| ENST00000359187 | ENST00000378603 | GOLGA8A | chr15 | 34680033 | - | DDB2 | chr11 | 47259387 | + | 0.01609363 | 0.9839064 |
| ENST00000359187 | ENST00000256996 | GOLGA8A | chr15 | 34680033 | - | DDB2 | chr11 | 47259387 | + | 0.01609363 | 0.9839064 |
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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 >33925_33925_1_GOLGA8A-DDB2_GOLGA8A_chr15_34680033_ENST00000359187_DDB2_chr11_47259387_ENST00000256996_length(amino acids)=155AA_BP=69 MTWPQPRLPPHPTMAEETGQSKLAAAKKKFKEYWQRNRPGVPAAAKRNTKANGSSPETAASGGCHSSEAAAWHPRYNLIVVGRYPDPNFK -------------------------------------------------------------- >33925_33925_2_GOLGA8A-DDB2_GOLGA8A_chr15_34680033_ENST00000359187_DDB2_chr11_47259387_ENST00000378600_length(amino acids)=155AA_BP=69 MTWPQPRLPPHPTMAEETGQSKLAAAKKKFKEYWQRNRPGVPAAAKRNTKANGSSPETAASGGCHSSEAAAWHPRYNLIVVGRYPDPNFK -------------------------------------------------------------- >33925_33925_3_GOLGA8A-DDB2_GOLGA8A_chr15_34680033_ENST00000359187_DDB2_chr11_47259387_ENST00000378603_length(amino acids)=155AA_BP=69 MTWPQPRLPPHPTMAEETGQSKLAAAKKKFKEYWQRNRPGVPAAAKRNTKANGSSPETAASGGCHSSEAAAWHPRYNLIVVGRYPDPNFK -------------------------------------------------------------- |
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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/chr15:34680033/chr11:47259387) - 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 |
| GOLGA8A | DDB2 |
| FUNCTION: May be involved in maintaining Golgi structure. {ECO:0000250}. | FUNCTION: Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:9892649, PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386, PubMed:14751237). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386). Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1) (PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:26572825). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16678110, PubMed:16473935). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:16473935). The DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). The DDB2-CUL4-ROC1 complex also ubiquitinates KAT7/HBO1 in response to DNA damage, leading to its degradation: recognizes KAT7/HBO1 following phosphorylation by ATR (PubMed:26572825). {ECO:0000269|PubMed:10882109, ECO:0000269|PubMed:11278856, ECO:0000269|PubMed:11705987, ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:12944386, ECO:0000269|PubMed:14751237, ECO:0000269|PubMed:15882621, ECO:0000269|PubMed:16260596, ECO:0000269|PubMed:16473935, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:18593899, ECO:0000269|PubMed:26572825, ECO:0000269|PubMed:9892649}.; FUNCTION: [Isoform D1]: Inhibits UV-damaged DNA repair. {ECO:0000269|PubMed:14751237}.; FUNCTION: [Isoform D2]: Inhibits UV-damaged DNA repair. {ECO:0000269|PubMed:14751237}. |
| 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 | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 256_274 | 152.0 | 239.0 | Motif | Note=DWD box | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 334_336 | 152.0 | 239.0 | Region | Note=Photolesion recognition | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 334_336 | 281.6666666666667 | 237.33333333333334 | Region | Note=Photolesion recognition | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 334_336 | 277.0 | 364.0 | Region | Note=Photolesion recognition | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 343_386 | 341.0 | 428.0 | Repeat | WD 6 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 396_420 | 341.0 | 428.0 | Repeat | WD 7 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 159_194 | 152.0 | 239.0 | Repeat | WD 2 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 203_238 | 152.0 | 239.0 | Repeat | WD 3 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 244_287 | 152.0 | 239.0 | Repeat | WD 4 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 290_329 | 152.0 | 239.0 | Repeat | WD 5 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 343_386 | 152.0 | 239.0 | Repeat | WD 6 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 396_420 | 152.0 | 239.0 | Repeat | WD 7 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 290_329 | 281.6666666666667 | 237.33333333333334 | Repeat | WD 5 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 343_386 | 281.6666666666667 | 237.33333333333334 | Repeat | WD 6 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 396_420 | 281.6666666666667 | 237.33333333333334 | Repeat | WD 7 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 290_329 | 277.0 | 364.0 | Repeat | WD 5 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 343_386 | 277.0 | 364.0 | Repeat | WD 6 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 396_420 | 277.0 | 364.0 | Repeat | WD 7 |
| - 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 | GOLGA8A | chr15:34680033 | chr11:47259387 | ENST00000359187 | - | 2 | 16 | 110_468 | 56.0 | 604.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | GOLGA8A | chr15:34680033 | chr11:47259387 | ENST00000360553 | - | 10 | 24 | 110_468 | 56.0 | 604.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | GOLGA8A | chr15:34680033 | chr11:47259387 | ENST00000359187 | - | 2 | 16 | 519_631 | 56.0 | 604.0 | Region | Golgi-targeting domain |
| Hgene | GOLGA8A | chr15:34680033 | chr11:47259387 | ENST00000360553 | - | 10 | 24 | 519_631 | 56.0 | 604.0 | Region | Golgi-targeting domain |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 256_274 | 341.0 | 428.0 | Motif | Note=DWD box | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 256_274 | 281.6666666666667 | 237.33333333333334 | Motif | Note=DWD box | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 256_274 | 277.0 | 364.0 | Motif | Note=DWD box | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 334_336 | 341.0 | 428.0 | Region | Note=Photolesion recognition | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 116_151 | 341.0 | 428.0 | Repeat | WD 1 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 159_194 | 341.0 | 428.0 | Repeat | WD 2 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 203_238 | 341.0 | 428.0 | Repeat | WD 3 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 244_287 | 341.0 | 428.0 | Repeat | WD 4 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000256996 | 6 | 10 | 290_329 | 341.0 | 428.0 | Repeat | WD 5 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378600 | 2 | 6 | 116_151 | 152.0 | 239.0 | Repeat | WD 1 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 116_151 | 281.6666666666667 | 237.33333333333334 | Repeat | WD 1 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 159_194 | 281.6666666666667 | 237.33333333333334 | Repeat | WD 2 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 203_238 | 281.6666666666667 | 237.33333333333334 | Repeat | WD 3 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378601 | 5 | 9 | 244_287 | 281.6666666666667 | 237.33333333333334 | Repeat | WD 4 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 116_151 | 277.0 | 364.0 | Repeat | WD 1 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 159_194 | 277.0 | 364.0 | Repeat | WD 2 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 203_238 | 277.0 | 364.0 | Repeat | WD 3 | |
| Tgene | DDB2 | chr15:34680033 | chr11:47259387 | ENST00000378603 | 5 | 9 | 244_287 | 277.0 | 364.0 | Repeat | WD 4 |
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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 |
| GOLGA8A | |
| DDB2 |
| - 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 GOLGA8A-DDB2 |
| 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 GOLGA8A-DDB2 |
| 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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