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Fusion gene ID: 2151 |
FusionGeneSummary for APEX1_GBF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APEX1_GBF1 | Fusion gene ID: 2151 | Hgene | Tgene | Gene symbol | APEX1 | GBF1 | Gene ID | 328 | 80142 |
| Gene name | apurinic/apyrimidinic endodeoxyribonuclease 1 | prostaglandin E synthase 2 | |
| Synonyms | APE|APE1|APEN|APEX|APX|HAP1|REF1 | C9orf15|GBF-1|GBF1|PGES2|mPGES-2 | |
| Cytomap | 14q11.2 | 9q34.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-(apurinic or apyrimidinic site) lyaseAP endonuclease class IAP lyaseAPEX nuclease (multifunctional DNA repair enzyme) 1apurinic-apyrimidinic endonuclease 1apurinic/apyrimidinic (abasic) endonucleasedeoxyribonuclease (apurinic or apyrimidinic)pr | prostaglandin E synthase 2GATE-binding factor 1gamma-interferon-activated transcriptional element-binding factor 1mPGE synthase-2membrane-associated prostaglandin E synthase 2microsomal prostaglandin E synthase-2prostaglandin-H(2) E-isomerase | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P27695 | Q92538 | |
| Ensembl transtripts involved in fusion gene | ENST00000555414, ENST00000216714, ENST00000398030, ENST00000557054, ENST00000557365, | ENST00000369983, ENST00000476019, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 9 X 8 X 5=360 |
| # samples | 1 | 12 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(12/360*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: APEX1 [Title/Abstract] AND GBF1 [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 | APEX1 | GO:0000723 | telomere maintenance | 24703901 |
| Hgene | APEX1 | GO:0006281 | DNA repair | 9560228 |
| Hgene | APEX1 | GO:0006284 | base-excision repair | 8932386 |
| Hgene | APEX1 | GO:0042981 | regulation of apoptotic process | 19934257 |
| Hgene | APEX1 | GO:0080111 | DNA demethylation | 21496894 |
| Hgene | APEX1 | GO:0097698 | telomere maintenance via base-excision repair | 24703901 |
| 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 | BF806154 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| * 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 |
| Frame-shift | ENST00000555414 | ENST00000369983 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| 5CDS-intron | ENST00000555414 | ENST00000476019 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| Frame-shift | ENST00000216714 | ENST00000369983 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| 5CDS-intron | ENST00000216714 | ENST00000476019 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| Frame-shift | ENST00000398030 | ENST00000369983 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| 5CDS-intron | ENST00000398030 | ENST00000476019 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| intron-3CDS | ENST00000557054 | ENST00000369983 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| intron-intron | ENST00000557054 | ENST00000476019 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| 3UTR-3CDS | ENST00000557365 | ENST00000369983 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
| 3UTR-intron | ENST00000557365 | ENST00000476019 | APEX1 | chr14 | 20924123 | + | GBF1 | chr10 | 104136765 | + |
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FusionProtFeatures for APEX1_GBF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APEX1 | GBF1 |
| Multifunctional protein that plays a central role in thecellular response to oxidative stress. The two major activities ofAPEX1 in DNA repair and redox regulation of transcriptionalfactors. Functions as a apurinic/apyrimidinic (AP)endodeoxyribonuclease in the DNA base excision repair (BER)pathway of DNA lesions induced by oxidative and alkylating agents.Initiates repair of AP sites in DNA by catalyzing hydrolyticincision of the phosphodiester backbone immediately adjacent tothe damage, generating a single-strand break with 5'-deoxyribosephosphate and 3'-hydroxyl ends. Does also incise at AP sites inthe DNA strand of DNA/RNA hybrids, single-stranded DNA regions ofR-loop structures, and single-stranded RNA molecules. Has a 3'-5'exoribonuclease activity on mismatched deoxyribonucleotides at the3' termini of nicked or gapped DNA molecules during short-patchBER. Possesses a DNA 3' phosphodiesterase activity capable ofremoving lesions (such as phosphoglycolate) blocking the 3' sideof DNA strand breaks. May also play a role in the epigeneticregulation of gene expression by participating in DNAdemethylation. Acts as a loading factor for POLB onto non-incisedAP sites in DNA and stimulates the 5'-terminal deoxyribose 5'-phosphate (dRp) excision activity of POLB. Plays a role in theprotection from granzymes-mediated cellular repair leading to celldeath. Also involved in the DNA cleavage step of class switchrecombination (CSR). On the other hand, APEX1 also exertsreversible nuclear redox activity to regulate DNA binding affinityand transcriptional activity of transcriptional factors bycontrolling the redox status of their DNA-binding domain, such asthe FOS/JUN AP-1 complex after exposure to IR. Involved incalcium-dependent down-regulation of parathyroid hormone (PTH)expression by binding to negative calcium response elements(nCaREs). Together with HNRNPL or the dimer XRCC5/XRCC6,associates with nCaRE, acting as an activator of transcriptionalrepression. Stimulates the YBX1-mediated MDR1 promoter activity,when acetylated at Lys-6 and Lys-7, leading to drug resistance.Acts also as an endoribonuclease involved in the control ofsingle-stranded RNA metabolism. Plays a role in regulating MYCmRNA turnover by preferentially cleaving in between UA and CAdinucleotides of the MYC coding region determinant (CRD). Inassociation with NMD1, plays a role in the rRNA quality controlprocess during cell cycle progression. Associates, together withYBX1, on the MDR1 promoter. Together with NPM1, associates withrRNA. Binds DNA and RNA. {ECO:0000269|PubMed:10023679,ECO:0000269|PubMed:11118054, ECO:0000269|PubMed:11452037,ECO:0000269|PubMed:11809897, ECO:0000269|PubMed:11832948,ECO:0000269|PubMed:12524539, ECO:0000269|PubMed:16617147,ECO:0000269|PubMed:1719477, ECO:0000269|PubMed:18179823,ECO:0000269|PubMed:18439621, ECO:0000269|PubMed:18579163,ECO:0000269|PubMed:18809583, ECO:0000269|PubMed:19188445,ECO:0000269|PubMed:19401441, ECO:0000269|PubMed:19934257,ECO:0000269|PubMed:20699270, ECO:0000269|PubMed:21496894,ECO:0000269|PubMed:21762700, ECO:0000269|PubMed:8355688,ECO:0000269|PubMed:8621488, ECO:0000269|PubMed:8932375,ECO:0000269|PubMed:9108029, ECO:0000269|PubMed:9207062,ECO:0000269|PubMed:9560228, ECO:0000269|PubMed:9804799}. | Guanine-nucleotide exchange factor (GEF) for members ofthe Arf family of small GTPases involved in trafficking in theearly secretory pathway; its GEF activity initiates the coating ofnascent vesicles via the localized generation of activated ARFsthrough replacement of GDP with GTP. Recruitment to cis-Golgimembranes requires membrane association of Arf-GDP and can beregulated by ARF1, ARF3, ARF4 and ARF5. Involved in therecruitment of the COPI coat complex to the endoplasmic reticulumexit sites (ERES), and the endoplasmic reticulum-Golgiintermediate (ERGIC) and cis-Golgi compartments which implicatesARF1 activation. Involved in COPI vesicle-dependent retrogradetransport from the ERGIC and cis-Golgi compartments to theendoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946,PubMed:18003980, PubMed:12047556, PubMed:12808027,PubMed:19039328, PubMed:24213530). Involved in the trans-Golginetwork recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1adaptor protein complex related to chlathrin-dependent transport;the function requires its GEF activity (probably at least in parton ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1(PubMed:15616190). Has in vitro GEF activity towards ARF5 (Bysimilarity). Involved in the processing of PSAP (PubMed:17666033).Required for the assembly of the Golgi apparatus (PubMed:12808027,PubMed:18003980). The AMPK-phosphorylated form is involved inGolgi disassembly during mitotis and under stress conditions(PubMed:18063581, PubMed:23418352). May be involved in the COPIvesicle-dependent recruitment of PNPLA2 to lipid droplets;however, this function is under debate (PubMed:19461073,PubMed:22185782). In neutrophils, involved in G protein-coupledreceptor (GPCR)-mediated chemotaxis und superoxide production.Proposed to be recruited by phosphatidylinositol-phosphatesgenerated upon GPCR stimulation to the leading edge where itrecruits and activates ARF1, and is involved in recruitment ofGIT2 and the NADPH oxidase complex (PubMed:22573891).{ECO:0000250|UniProtKB:Q9R1D7, ECO:0000269|PubMed:12047556,ECO:0000269|PubMed:12808027, ECO:0000269|PubMed:15616190,ECO:0000269|PubMed:16926190, ECO:0000269|PubMed:17666033,ECO:0000269|PubMed:17956946, ECO:0000269|PubMed:18003980,ECO:0000269|PubMed:18063581, ECO:0000269|PubMed:19461073,ECO:0000269|PubMed:22185782, ECO:0000269|PubMed:22573891,ECO:0000269|PubMed:23386609, ECO:0000269|PubMed:23418352,ECO:0000269|PubMed:24213530, ECO:0000305|PubMed:19039328,ECO:0000305|PubMed:22573891}. |
| 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 APEX1_GBF1 |
| 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 APEX1_GBF1 |
| 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 APEX1_GBF1 |
| 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 APEX1_GBF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | APEX1 | C0018799 | Heart Diseases | 1 | CTD_human |
| Hgene | APEX1 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | APEX1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | APEX1 | C0036572 | Seizures | 1 | CTD_human |
| Hgene | APEX1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | APEX1 | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human |
| Hgene | APEX1 | C2239176 | Liver carcinoma | 1 | CTD_human |
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