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Fusion gene ID: 2099 |
FusionGeneSummary for AP3S1_ARL14EPL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AP3S1_ARL14EPL | Fusion gene ID: 2099 | Hgene | Tgene | Gene symbol | AP3S1 | ARL14EPL | Gene ID | 1176 | 644100 |
| Gene name | adaptor related protein complex 3 subunit sigma 1 | ADP ribosylation factor like GTPase 14 effector protein like | |
| Synonyms | CLAPS3|Sigma3A | - | |
| Cytomap | 5q22.3-q23.1 | 5q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AP-3 complex subunit sigma-1adapter-related protein complex 3 subunit sigma-1adaptor related protein complex 3 sigma 1 subunitclathrin adaptor complex AP3, sigma-3A subunitclathrin-associated/assembly/adapter protein, small 3clathrin-associated/assem | ARL14 effector protein-likeADP-ribosylation factor-like 14 effector protein-like | |
| Modification date | 20180519 | 20180409 | |
| UniProtAcc | Q92572 | P0DKL9 | |
| Ensembl transtripts involved in fusion gene | ENST00000316788, ENST00000505423, | ENST00000601302, | |
| Fusion gene scores | * DoF score | 2 X 1 X 1=2 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/2*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: AP3S1 [Title/Abstract] AND ARL14EPL [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 |
| 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 | LD | PRAD | TCGA-HC-7818-01A | AP3S1 | chr5 | 115177803 | + | ARL14EPL | chr5 | 115389711 | + |
| * 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 | ENST00000316788 | ENST00000601302 | AP3S1 | chr5 | 115177803 | + | ARL14EPL | chr5 | 115389711 | + |
| intron-3CDS | ENST00000505423 | ENST00000601302 | AP3S1 | chr5 | 115177803 | + | ARL14EPL | chr5 | 115389711 | + |
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FusionProtFeatures for AP3S1_ARL14EPL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AP3S1 | ARL14EPL |
| Part of the AP-3 complex, an adaptor-related complexwhich is not clathrin-associated. The complex is associated withthe Golgi region as well as more peripheral structures. Itfacilitates the budding of vesicles from the Golgi membrane andmay be directly involved in trafficking to lysosomes. In concertwith the BLOC-1 complex, AP-3 is required to target cargos intovesicles assembled at cell bodies for delivery into neurites andnerve terminals. |
| 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 |
| Tgene | >ARL14EPL | chr5:115177803 | chr5:115389711 | ENST00000601302 | + | 0 | 3 | 92_126 | 32 | 153 | Compositional bias | Note=Cys-rich |
| - 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 AP3S1_ARL14EPL |
| 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. |
| >In-frame_AP3S1_ENST00000316788_chr5_115177803_+_ARL14EPL_ENST00000601302_chr5_115389711_+_144aa MIKAILIFNNHGKPRLSKFYQPYQQIERQLKCLAFRNPGPQVADFNPETRQQKKKARMSKMNEYFSTKYKIMRKYDKSGRLICNDADLCD |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_AP3S1_ENST00000316788_chr5_115177803_+_ARL14EPL_ENST00000601302_chr5_115389711_+_432nt ATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACCAACAAATAGAGCGGCAGTTA AAATGCTTGGCATTTCGAAACCCTGGACCACAGGTAGCAGACTTTAATCCTGAAACAAGGCAGCAGAAAAAGAAAGCCCGGATGTCAAAG ATGAATGAATATTTTTCTACCAAATACAAAATAATGAGGAAGTATGACAAAAGTGGCAGGCTCATCTGTAATGACGCTGATCTGTGTGAT TGTCTAGAGAAGAACTGCCTGGGCTGCTTCTACCCATGCCCGAAGTGTAACTCCAACAAGTGTGGGCCCGAGTGCCGCTGCAACCGACGG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_AP3S1_ENST00000316788_chr5_115177803_+_ARL14EPL_ENST00000601302_chr5_115389711_+_2160nt ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACCAAC AAATAGAGCGGCAGTTAAAATGCTTGGCATTTCGAAACCCTGGACCACAGGTAGCAGACTTTAATCCTGAAACAAGGCAGCAGAAAAAGA AAGCCCGGATGTCAAAGATGAATGAATATTTTTCTACCAAATACAAAATAATGAGGAAGTATGACAAAAGTGGCAGGCTCATCTGTAATG ACGCTGATCTGTGTGATTGTCTAGAGAAGAACTGCCTGGGCTGCTTCTACCCATGCCCGAAGTGTAACTCCAACAAGTGTGGGCCCGAGT GCCGCTGCAACCGACGGTGGGTTTACGATGCCATCGTCACTGAGTCAGGAGAGGTCATCAGCACGCTGCCGTTTAATGTTCCTGACTAGG TGCTCTTGTATATGGACTGATTTGTTTCTTCTTCTTACACATTTAAGTTGACCTCTTTCTTTTGGGTGAATTTTAGGGCTTGGGGGAAAT ATCGAAAAAACATACTGAAGACTCATGTTCTGTCAAGCCCCAGAACAATGTAGAATGGGCAATAATTCTGTAACCTTCTTAACTGTGTCA ACAATTTTCAAGTCCCTTAACTTGCAACCAAAGAATGTAACAATGGAGGGATCAGCATTTCTCATCAGCACCCTCATCTCTACTCTGCCT TCAAATTAAAACTCTCTTCCCTCTTTGCTGATATCTGAGAAAATGTAGCTTTAAGATTTTCAAAACTCTGTAGTTGAGAGCTTTTCTTAC ATAGAACATAGAATCTTAAATTTATAATATCTAGTTGTCCTTAGAATCTTATACATCACTAGCTGTAAATCAGAATTGCCATTTGGATTT TGAAGAAAAACTGTGACTTTGCACTGTATACCCATAGCCTCATTTTTTTATTGTTCATGTTTTAATAACATTAAAATGAAATTTAGTAAT ACTTGGTAGTATTTTTAATCATTAAAATTTGTATTGTACTTGTAAAATTGAAAAGTTAGGAATTTATTATCCTAAAAGCCAGGAGTTTAC ATATTTTTGATTTCAGAAGCAGTATTTCAGGATTTGTTTTTCATAGAGAGAAAACAAGTTATACAAAAATGATTTTCTGTATGTTTGCTA ATTGAGTGTGTTGATAAGCAATTGACTAGATAAATGATGTAGTCTTTTCAACTTTGATACATCATCAGAGCTATAAAATATTGAATTCAG CTTTCTTTGAATTCATTTTTTTATGACAGTCTTTTTTTTAACCCTAAGTCAATGGTTCTCATTCATGAGAATTGCCTAGAGAACTTGTCA AAACATAGATTTTTGCAGCCCCACATTCAGAATCTGGGACAGGGCTCAACCATCTGTTCCACGTTCCCAGGTGATGTTGATGCTGCTGAT GTGGGGACCACACTTTGAGAACCACTTCTCTAAATTATTTTAGATACATAATGTAAGGAAGTATTTAAACCTCATTGACTATGATACTGC CACTGCACAAAGCTGGAAGTATTTAAATAAAGTAACGTAATAAAAATTTAAAAGTAAATAAAAGCATTTAAGTTTTAAAATAAATTTGAA |
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FusionGenePPI for AP3S1_ARL14EPL |
| 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 |
| AP3S1 | IRS1, ELAVL1, AP3B1, ECT2, AP3D1, AP3M1, FLNC, KRT7, RABL6, SMC4, SSSCA1, EGFR, STAU1, RUFY1, KLK11, SRPRB, KLK5, AGO3, DTNBP1, RNF13, VSIG4, EPB41L3, CDC73, XPO1, CD14, EMC2, ZWINT, KIAA1107, PCDHB15, DUSP1, DUSP19, DUSP2, DUSP23, DUSP4, DUSP5, DUSP6, AP3M2, AP3B2, RNF167, TMEM63A, DHRS2, FBXO11, ZYG11B, MUC20, AGK, PMEL, TPCN2, IRGC, IGSF6, VSIG1, ICAM1, SPG7, FNDC3A, DLD | ARL14EPL |
| - 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 AP3S1_ARL14EPL |
| 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 AP3S1_ARL14EPL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AP3S1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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