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Fusion gene ID: 26650 |
FusionGeneSummary for PELI1_APLF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PELI1_APLF | Fusion gene ID: 26650 | Hgene | Tgene | Gene symbol | PELI1 | APLF | Gene ID | 57162 | 200558 |
| Gene name | pellino E3 ubiquitin protein ligase 1 | aprataxin and PNKP like factor | |
| Synonyms | - | APFL|C2orf13|PALF|Xip1|ZCCHH1 | |
| Cytomap | 2p14 | 2p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase pellino homolog 1RING-type E3 ubiquitin transferase pellino homolog 1pellino homolog 1pellino-1pellino-related intracellular-signaling moleculeprotein pellino homolog 1 | aprataxin and PNK-like factorPNK and APTX-like FHA domain-containing proteinPNK and APTX-like FHA proteinXRCC1-interacting protein 1aprataxin- and PNK-like factorapurinic-apyrimidinic endonuclease APLFzinc finger, CX5CX6HX5H motif containing 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96FA3 | Q8IW19 | |
| Ensembl transtripts involved in fusion gene | ENST00000358912, ENST00000466177, | ENST00000471727, ENST00000303795, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 3 X 3 X 3=27 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PELI1 [Title/Abstract] AND APLF [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 |
| Tgene | APLF | GO:0006974 | cellular response to DNA damage stimulus | 17396150 |
| 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 |
| TCGA | RV | BRCA | TCGA-BH-A1F6-01A | PELI1 | chr2 | 64371215 | - | APLF | chr2 | 68794473 | + |
| * 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 |
| 5UTR-3UTR | ENST00000358912 | ENST00000471727 | PELI1 | chr2 | 64371215 | - | APLF | chr2 | 68794473 | + |
| 5UTR-3UTR | ENST00000358912 | ENST00000303795 | PELI1 | chr2 | 64371215 | - | APLF | chr2 | 68794473 | + |
| 5UTR-3UTR | ENST00000466177 | ENST00000471727 | PELI1 | chr2 | 64371215 | - | APLF | chr2 | 68794473 | + |
| 5UTR-3UTR | ENST00000466177 | ENST00000303795 | PELI1 | chr2 | 64371215 | - | APLF | chr2 | 68794473 | + |
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FusionProtFeatures for PELI1_APLF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PELI1 | APLF |
| E3 ubiquitin ligase catalyzing the covalent attachmentof ubiquitin moieties onto substrate proteins. Involved in the TLRand IL-1 signaling pathways via interaction with the complexcontaining IRAK kinases and TRAF6. Mediates 'Lys-63'-linkedpolyubiquitination of IRAK1 allowing subsequent NF-kappa-Bactivation. {ECO:0000269|PubMed:12496252,ECO:0000269|PubMed:17675297}. | Nuclease involved in single-strand and double-strand DNAbreak repair. Recruited to sites of DNA damage through interactionwith poly(ADP-ribose), a polymeric post-translational modificationsynthesized transiently at sites of chromosomal damage toaccelerate DNA strand break repair reactions. Displays apurinic-apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities invitro. Also able to introduce nicks at hydroxyuracil and othertypes of pyrimidine base damage. {ECO:0000269|PubMed:17353262,ECO:0000269|PubMed:17396150}. |
| 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 PELI1_APLF |
| 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 PELI1_APLF |
| 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 |
| PELI1 | IRAK1, IRAK4, IRAK2, RIPK1, UBE2I, UBC, TBK1, IKBKB, TRAF6, IL1R1, SMAD6, MYD88, NR2C2, UBE2N, UBE2V1, UBE2D1, UBE2D2, DEAF1, SRPK2, SRPK1, BCL6, TRIP13, VAC14, IRS1, BIRC3, MDM4 | APLF | CHD1L, HIST3H3, PARP1, LIG4, XRCC5, APP, FBXO25, GMCL1, POLB, H2AFY2, H2AFY, SUPT16H, XRCC1, LIG3, PARP2, XRCC6, HLTF, HIST1H2BJ, HIST1H2AG, HIST2H2AB, XRCC4, XPC, CETN2, TDP1, TOP1, SSRP1, ZG16B, HIST2H3PS2, CST4, HIST1H2BA, HIST2H2AC, MSH3, CST1 |
| - 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 PELI1_APLF |
| 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 PELI1_APLF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PELI1 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Hgene | PELI1 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
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