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Fusion gene ID: 2104 |
FusionGeneSummary for AP4B1_PIFO |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AP4B1_PIFO | Fusion gene ID: 2104 | Hgene | Tgene | Gene symbol | AP4B1 | PIFO | Gene ID | 10717 | 128344 |
| Gene name | adaptor related protein complex 4 subunit beta 1 | primary cilia formation | |
| Synonyms | BETA-4|CPSQ5|SPG47 | C1orf88|pitchfork | |
| Cytomap | 1p13.2 | 1p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AP-4 complex subunit beta-1AP-4 adaptor complex subunit betaadaptor related protein complex 4 beta 1 subunitbeta 4 subunit of AP-4beta4-adaptinspastic paraplegia 47 | protein pitchfork | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9Y6B7 | Q8TCI5 | |
| Ensembl transtripts involved in fusion gene | ENST00000369567, ENST00000369569, ENST00000256658, ENST00000462591, ENST00000369566, | ENST00000369738, ENST00000484512, ENST00000369737, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: AP4B1 [Title/Abstract] AND PIFO [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 | BLCA | TCGA-4Z-AA84-01A | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| * 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 |
| intron-3CDS | ENST00000369567 | ENST00000369738 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| intron-3UTR | ENST00000369567 | ENST00000484512 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| intron-3UTR | ENST00000369567 | ENST00000369737 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| In-frame | ENST00000369569 | ENST00000369738 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| 5CDS-3UTR | ENST00000369569 | ENST00000484512 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| 5CDS-3UTR | ENST00000369569 | ENST00000369737 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| Frame-shift | ENST00000256658 | ENST00000369738 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| 5CDS-3UTR | ENST00000256658 | ENST00000484512 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| 5CDS-3UTR | ENST00000256658 | ENST00000369737 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| intron-3CDS | ENST00000462591 | ENST00000369738 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| intron-3UTR | ENST00000462591 | ENST00000484512 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| intron-3UTR | ENST00000462591 | ENST00000369737 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| intron-3CDS | ENST00000369566 | ENST00000369738 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| intron-3UTR | ENST00000369566 | ENST00000484512 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
| intron-3UTR | ENST00000369566 | ENST00000369737 | AP4B1 | chr1 | 114444377 | - | PIFO | chr1 | 111889532 | + |
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FusionProtFeatures for AP4B1_PIFO |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AP4B1 | PIFO |
| Component of the adaptor protein complex 4 (AP-4).Adaptor protein complexes are vesicle coat components involvedboth in vesicle formation and cargo selection. They control thevesicular transport of proteins in different trafficking pathways(PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network(TGN) and may be involved in the targeting of proteins from thetrans-Golgi network (TGN) to the endosomal-lysosomal system. It isalso involved in protein sorting to the basolateral membrane inepithelial cells and the proper asymmetric localization ofsomatodendritic proteins in neurons. AP-4 is involved in therecognition and binding of tyrosine-based sorting signals found inthe cytoplasmic part of cargos, but may also recognize other typesof sorting signal (Probable). {ECO:0000269|PubMed:10066790,ECO:0000269|PubMed:10436028, ECO:0000305|PubMed:10066790,ECO:0000305|PubMed:10436028}. | During primary cilia disassembly, involved in ciliadisassembly. Required specifically to control cilia retraction aswell as the liberation and duplication of the basalbody/centrosome. May act by stimulating AURKA activity at thebasal body in a cell cycle-dependent manner.{ECO:0000269|PubMed:20643351}. |
| 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 AP4B1_PIFO |
| 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_AP4B1_ENST00000369569_chr1_114444377_-_PIFO_ENST00000369738_chr1_111889532_+_342aa MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATVDIVQKKLVYLYMCTYAPLKPDLALLAINTL CKDCSDPNPMVRGLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDAADNYPFGTCQQRKLFPHFHPPN LIGNKFVPLRGSPHRGPGCYFSDGYGLAYDLSKIPTSIKGYTLGARTAVRFKPIQKEMTPHAGRYQKVSPQQEKHKQNFAPFNVLVPRFK |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_AP4B1_ENST00000369569_chr1_114444377_-_PIFO_ENST00000369738_chr1_111889532_+_1026nt ATGCCGTACCTTGGCTCCGAGGACGTGGTGAAGGAGCTGAAGAAGGCTCTGTGCAATCCTCACATTCAAGCTGATAGGCTGCGCTACCGG AATGTCATCCAGCGAGTGATTAGGTACATGACTCAAGGCTTGGACATGTCTGGTGTTTTTATGGAAATGGTGAAGGCCAGTGCCACTGTA GATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACCAGATCTGGCTCTCCTGGCCATCAATACGCTG TGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTGTGCAGGAGTAT ATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTCATATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGATGCATAATCTT CATGGAGACTCTGAAGTAGACGCTGCGGATAACTACCCTTTTGGAACATGTCAACAGAGGAAACTTTTTCCTCACTTCCATCCCCCGAAT TTGATTGGGAACAAGTTTGTCCCTCTTAGGGGATCACCCCACAGAGGGCCTGGGTGTTATTTTTCAGATGGATATGGCTTGGCATACGAC TTATCTAAGATCCCAACCAGTATAAAAGGATATACTTTGGGAGCCAGAACAGCTGTGAGGTTTAAGCCAATACAGAAGGAAATGACACCT CATGCAGGCAGGTACCAGAAAGTAAGTCCTCAGCAGGAAAAACACAAACAAAATTTTGCTCCATTTAATGTCTTGGTGCCTCGATTTAAG AACTACCCAAAGGACACTTACTATCCCAGCCCTGGTGCATACAACCCAGAGAAGAAGCCACCGCCAAAAATTGCCTGGCCAATGAAATTT GGATCTCCAGACTGGGCTCAGGTTCCATGTCTACAGAAAAGAACCCTAAAAGCTGAGCTGTCCACAGACAAAGACTTTAGAAAGCATCGG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_AP4B1_ENST00000369569_chr1_114444377_-_PIFO_ENST00000369738_chr1_111889532_+_2993nt GGACCTAGAAGTAGCGGGAGCGATCTGTGGGCGGGGCGAACGGCCTGCCGGCCGACGGTAGGGCCTGAAGAGCCTAGGGTGGGGCTCGCG GTGTCGCGGAGGGCGTGGAAGTGTGTCAGGGCCAGCGTGCCGGCCCTACGGAAGCCGAGCCTGAGGCGAGATCTCGCCTTTTGTATTTTC ACTGACTCATATTTCCTTTACTCAGGCTCCCACATCAGGACGAGAAGGAGCCCTCGAGTTACCGTGGGAGCTGTGGGAGCTGCCCTGTGA CTCTTAGGAAGATGCCGTACCTTGGCTCCGAGGACGTGGTGAAGGAGCTGAAGAAGGCTCTGTGCAATCCTCACATTCAAGCTGATAGGC TGCGCTACCGGAATGTCATCCAGCGAGTGATTAGGTACATGACTCAAGGCTTGGACATGTCTGGTGTTTTTATGGAAATGGTGAAGGCCA GTGCCACTGTAGATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACCAGATCTGGCTCTCCTGGCCA TCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATGGTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAGGATGCCTGGTG TGCAGGAGTATATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTCATATGTCAGGAGAGTGGCAGTCCTTGGATGTGCCAAGA TGCATAATCTTCATGGAGACTCTGAAGTAGACGCTGCGGATAACTACCCTTTTGGAACATGTCAACAGAGGAAACTTTTTCCTCACTTCC ATCCCCCGAATTTGATTGGGAACAAGTTTGTCCCTCTTAGGGGATCACCCCACAGAGGGCCTGGGTGTTATTTTTCAGATGGATATGGCT TGGCATACGACTTATCTAAGATCCCAACCAGTATAAAAGGATATACTTTGGGAGCCAGAACAGCTGTGAGGTTTAAGCCAATACAGAAGG AAATGACACCTCATGCAGGCAGGTACCAGAAAGTAAGTCCTCAGCAGGAAAAACACAAACAAAATTTTGCTCCATTTAATGTCTTGGTGC CTCGATTTAAGAACTACCCAAAGGACACTTACTATCCCAGCCCTGGTGCATACAACCCAGAGAAGAAGCCACCGCCAAAAATTGCCTGGC CAATGAAATTTGGATCTCCAGACTGGGCTCAGGTTCCATGTCTACAGAAAAGAACCCTAAAAGCTGAGCTGTCCACAGACAAAGACTTTA GAAAGCATCGGAACCGTGTGGCCTACCTAAGCCTGTATTATAATTGAGCGGCTGTAACTACCTTCACGTGCTCCTCTTATACACAGACTC TCCAGGACTGAGGACAGAGCTGCTCTTCTTCTTCTACGTTACTGTGGCCCTCTTGTCTGGCAGCCTGGAGCCCAGGGAGGGACAGGGGCT TATAGCTGCTGTATGAGAACATAAAGACTAGTGCACAGTGCTATCTCCATCTACTGACTTGTGGTGTACACGTGCATGTCTGGGTCTGTG GGTTTCTGTTGGGTGCTGAGTTGGGTGATTTCATTTTAGTGAAATATTTGTGGGCCCCTGCTCTCTAGTTCTAATTCCCAGGAGCCAATT TTATATATTCTACCACTAGCCCTGGTCATAGGAGGCTGTTAGCCTATACATGTCAAGGGTTTGGATGGGATTTGGGCTTGCTAGATACAG AAAACACTTAAGGCAGATTAAAACATGTATTGGAGCTCTCCCAATTGTGTTGCTCAGTGTGGAGTGGGAAGGTCTTGATTTGGTTGACTT TCCCAGATTGACATAAAACTCAAAAACCAAAAAATTGCCCCTTTCCTATGACATCATCCATTTAGTCTGTGAGTCAACATATATACTGAG GTCCTACTATGTGTTGAGCAGAGCAGTAAGCACTGGGGATATGGCAGGAATCAAAATAAACTTATCTACTAAGTCCTTGGGCCTGGCCTG AAGTCAGAGGAGGACTCCCCAGGGCAGCTAGGGGATTGGGTCTGCCCTCCAATCTGAATGACCCCCTAGAACCTTACAAGTCATTCTGGG GTTATAAAGATCATAACATTTATAGCCCCAGACTGACTTGTAAGCAGCTGCATTTAAAGTACTTACTCAGACACTCAGGCCTGAGAGATA GACCCCTTTCTTTCCAGCACTAGCTGAAATAATCAAGTATATAGTTTGTTCAGGATTGGCACTAAATGTGATTTAATCTTTTAATAAAAG GGTCCTTTTGTACCCACTTAGGCTTCTTCGTAATTACCAGAAAGGTGATAAGCCTGCATGTGTCTGGACACCAAAGATTGAGAAGCTGCC AGTGGCTGCAAGAGAGCCTACTGTAACCCTCATGGCCACCCCCTGATGAGTGTTACCTGGGGAAAGGGCTAGCAAGAGGTGAAGCCTCCT GGTCATATGATGCTGGGGGTGCCTAATTCCTTAAAGGCCAAGGTCTTCTGAAATAATAATGGTGAAGGACAGAAAAGTCTTTATGAGAAA TCACATAGGATATATTAAGATAATGATAAAGATACCTCAGCAAGAACATACCTAATATATACACTTCTTTTAATCTGATGACTTAATGAT TTCTGTTATCAAGAAGTATTTATGACTTGAGATAAGTCAGGATTAACTGTTATCACCTCTCCTGTACACCTCCCTCCTTTTTCTCCTTTG TACCCACATGTGCAGATTTTTTCAGAGGTGACAATTTAGCATTTAATGTTTTTTTTTCTGCTTCAAGTTCTTAGGTCCCTTTGGAGGATA TTGATGGGGGTGGAGGTGGGGATAGAACATCTTTCACACTGTTTGGTACAGAGACGCTCAAAGCTTTTCCCAGGGAAAGGAACTCTCTAA AATAGTAATCTGATTTGATGAAAGATAAAATTTTAATATAGCTTCAGTTAACCTTCAGGATACTTTAAATGCTACATTGTATATAAAAGT |
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FusionGenePPI for AP4B1_PIFO |
| 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 |
| AP4B1 | AP4E1, FIBP, AP4M1, ZNF576, POC1A, TMEM17, XPO1, AP4S1 | PIFO | RAP2A, ANAPC1, DAAM1, YES1, GNAQ, PSMG3, DUSP28, EPHA2, ANAPC5, CRNN, CSNK1G1 |
| - 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 AP4B1_PIFO |
| 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 AP4B1_PIFO |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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