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Fusion gene ID: 26341 |
FusionGeneSummary for PDCD11_ANKFY1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDCD11_ANKFY1 | Fusion gene ID: 26341 | Hgene | Tgene | Gene symbol | PDCD11 | ANKFY1 | Gene ID | 22984 | 51479 |
| Gene name | programmed cell death 11 | ankyrin repeat and FYVE domain containing 1 | |
| Synonyms | ALG-4|ALG4|NFBP|RRP5 | ANKHZN|BTBD23|ZFYVE14 | |
| Cytomap | 10q24.33 | 17p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein RRP5 homologNF-kappa-B-binding proteinapoptosis-linked gene 4programmed cell death protein 11 | rabankyrin-5Rabankyrin-5ankyrin repeat and FYVE domain-containing protein 1ankyrin repeat hooked to zinc finger motifankyrin repeats hooked to a zinc finger motifrank-5 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q14690 | Q9P2R3 | |
| Ensembl transtripts involved in fusion gene | ENST00000369797, ENST00000490787, | ENST00000341657, ENST00000570535, ENST00000574367, ENST00000573722, ENST00000433651, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 4 X 3=48 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PDCD11 [Title/Abstract] AND ANKFY1 [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 | ANKFY1 | GO:0034058 | endosomal vesicle fusion | 15328530 |
| Tgene | ANKFY1 | GO:0048549 | positive regulation of pinocytosis | 15328530 |
| 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 | DW465984 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| * 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 |
| In-frame | ENST00000369797 | ENST00000341657 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| In-frame | ENST00000369797 | ENST00000570535 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| In-frame | ENST00000369797 | ENST00000574367 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| 5CDS-intron | ENST00000369797 | ENST00000573722 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| 5CDS-intron | ENST00000369797 | ENST00000433651 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| intron-3CDS | ENST00000490787 | ENST00000341657 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| intron-3CDS | ENST00000490787 | ENST00000570535 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| intron-3CDS | ENST00000490787 | ENST00000574367 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| intron-intron | ENST00000490787 | ENST00000573722 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
| intron-intron | ENST00000490787 | ENST00000433651 | PDCD11 | chr10 | 105158283 | + | ANKFY1 | chr17 | 4080478 | - |
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FusionProtFeatures for PDCD11_ANKFY1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDCD11 | ANKFY1 |
| Essential for the generation of mature 18S rRNA,specifically necessary for cleavages at sites A0, 1 and 2 of the47S precursor. Directly interacts with U3 snoRNA.{ECO:0000269|PubMed:17654514}. Involved in the biogenesis of rRNA. {ECO:0000250}. | Proposed effector of Rab5. Binds to phosphatidylinositol3-phosphate (PI(3)P). Involved in homotypic early endosome fusionand to a lesser extent in heterotypic fusion of chlathrin-coatedvesicles with early endosomes. Involved in macropinocytosis; thefunction is dependent on Rab5-GTP. Required for correct endosomallocalization. Involved in the internalization and trafficking ofactivated tyrosine kinase receptors such as PDGFRB. Regulates thesubcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport andbiosynthetic transport to late endosomes and lysosomes indicativefor a regulation of retromer complex-mediated retrogradetransport. {ECO:0000269|PubMed:15328530,ECO:0000269|PubMed:22284051, ECO:0000269|PubMed:24102721}. |
| 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 PDCD11_ANKFY1 |
| 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 PDCD11_ANKFY1 |
| 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 PDCD11_ANKFY1 |
| 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 PDCD11_ANKFY1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ANKFY1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
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