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Fusion gene ID: 2110 |
FusionGeneSummary for AP5M1_MAPRE1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AP5M1_MAPRE1 | Fusion gene ID: 2110 | Hgene | Tgene | Gene symbol | AP5M1 | MAPRE1 | Gene ID | 55745 | 22919 |
| Gene name | adaptor related protein complex 5 subunit mu 1 | microtubule associated protein RP/EB family member 1 | |
| Synonyms | C14orf108|MUDENG|Mu5|MuD | EB1 | |
| Cytomap | 14q22.3 | 20q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AP-5 complex subunit mu-1AP-5 complex subunit muMHD domain-containing death-inducing proteinMU-2/AP1M2 domain containing, death-inducingMu-2 related death-inducingadapter-related protein complex 5 mu subunitadapter-related protein complex 5 subunit | microtubule-associated protein RP/EB family member 1APC-binding protein EB1adenomatous polyposis coli-binding protein EB1end-binding protein 1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9H0R1 | Q15691 | |
| Ensembl transtripts involved in fusion gene | ENST00000261558, ENST00000431972, ENST00000556723, | ENST00000375571, | |
| Fusion gene scores | * DoF score | 2 X 3 X 1=6 | 6 X 5 X 3=90 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/6*10)=2.32192809488736 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AP5M1 [Title/Abstract] AND MAPRE1 [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 | MAPRE1 | GO:0031115 | negative regulation of microtubule polymerization | 11943150 |
| Tgene | MAPRE1 | GO:0035372 | protein localization to microtubule | 19632184|21820309 |
| 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 | DA250860 | AP5M1 | chr14 | 57741156 | + | MAPRE1 | chr20 | 31436476 | + |
| * 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 | ENST00000261558 | ENST00000375571 | AP5M1 | chr14 | 57741156 | + | MAPRE1 | chr20 | 31436476 | + |
| In-frame | ENST00000431972 | ENST00000375571 | AP5M1 | chr14 | 57741156 | + | MAPRE1 | chr20 | 31436476 | + |
| intron-3CDS | ENST00000556723 | ENST00000375571 | AP5M1 | chr14 | 57741156 | + | MAPRE1 | chr20 | 31436476 | + |
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FusionProtFeatures for AP5M1_MAPRE1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AP5M1 | MAPRE1 |
| As part of AP-5, a probable fifth adaptor proteincomplex it may be involved in endosomal transport. According toPubMed:18395520, it may play a role in cell death.{ECO:0000269|PubMed:18395520, ECO:0000269|PubMed:22022230}. | Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubulecytoskeleton (PubMed:12388762, PubMed:16109370, PubMed:19632184,PubMed:21646404, PubMed:28726242, PubMed:28814570). Promotescytoplasmic microtubule nucleation and elongation(PubMed:12388762, PubMed:16109370, PubMed:19632184,PubMed:21646404, PubMed:28726242, PubMed:28814570). May beinvolved in spindle function by stabilizing microtubules andanchoring them at centrosomes (PubMed:12388762). Also acts as aregulator of minus-end microtubule organization: interacts withthe complex formed by AKAP9 and PDE4DIP, leading to recruitCAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomalminus-end microtubules to the Golgi, an important step forpolarized cell movement (PubMed:28814570). Promotes elongation ofCAMSAP2-decorated microtubule stretches on the minus-end ofmicrotubules (PubMed:28814570). Acts as a regulator ofautophagosome transport via interaction with CAMSAP2(PubMed:28726242). May play a role in cell migration (Bysimilarity). {ECO:0000250|UniProtKB:Q61166,ECO:0000269|PubMed:12388762, ECO:0000269|PubMed:16109370,ECO:0000269|PubMed:19632184, ECO:0000269|PubMed:21646404,ECO:0000269|PubMed:28726242, ECO:0000269|PubMed:28814570}. |
| 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 |
| Tgene | MAPRE1 | chr14:57741156 | chr20:31436476 | ENST00000375571 | + | 5 | 7 | 14_116 | 250 | 269 | Domain | Calponin-homology (CH) |
| Tgene | MAPRE1 | chr14:57741156 | chr20:31436476 | ENST00000375571 | + | 5 | 7 | 185_255 | 250 | 269 | Domain | EB1 C-terminal |
| Tgene | MAPRE1 | chr14:57741156 | chr20:31436476 | ENST00000375571 | + | 5 | 7 | 208_268 | 250 | 269 | Region | Note=DCTN1-binding |
| Tgene | MAPRE1 | chr14:57741156 | chr20:31436476 | ENST00000375571 | + | 5 | 7 | 220_242 | 250 | 269 | Region | Note=APC-binding |
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FusionGeneSequence for AP5M1_MAPRE1 |
| 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_AP5M1_ENST00000261558_chr14_57741156_+_MAPRE1_ENST00000375571_chr20_31436476_+_54aa >In-frame_AP5M1_ENST00000431972_chr14_57741156_+_MAPRE1_ENST00000375571_chr20_31436476_+_54aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_AP5M1_ENST00000261558_chr14_57741156_+_MAPRE1_ENST00000375571_chr20_31436476_+_162nt GCTTTGGTGAAGCACGTGCAGTCTAAAGGATACCCAAATGAACGTTTTGAACTTCTCACCAACTTTCCTCGAAGGAAATTATCTCATCTG >In-frame_AP5M1_ENST00000431972_chr14_57741156_+_MAPRE1_ENST00000375571_chr20_31436476_+_162nt GCTTTGGTGAAGCACGTGCAGTCTAAAGGATACCCAAATGAACGTTTTGAACTTCTCACCAACTTTCCTCGAAGGAAATTATCTCATCTG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_AP5M1_ENST00000261558_chr14_57741156_+_MAPRE1_ENST00000375571_chr20_31436476_+_1734nt GAAGGCTTTGTGATACCTGATGAAGGGGGCCCACAGGAGGAGCAAGAAGAGTATTAACAGCCTGGACCAGCAGAGCAACATCGGAATTCT TCACTCCAAATCATGTGCTTAACTGTAAAATACTCCCTTTTGTTATCCTTAGAGGACTCACTGGTTTCTTTTCATAAGCAAAAAGTACCT CTTCTTAAAGTGCACTTTGCAGACGTTTCACTCCTTTTCCAATAAGTTTGAGTTAGGAGCTTTTACCTTGTAGCAGAGCAGTATTAACAC CTAGTTGGTTCACCTGGAAAACAGAGAGGCTGACCGTGGGGCTCACCATGCGGATGCGGGTCACACTGAATGCTGGAGAGATGTTATGTA ATATGCTGAGGTGGCGACCTCAGTGGAGAAATGTAAAGACTGAATTGAATTTTAAGCTAATGTGAAATCAGAGAATGTTGTAATAAGTAA ATGCCTTAAGAGTATTTAAAATATGCTTCCACATTTCAAAATATAAAATGTAACATGACAAGAGATTTTGCGTTTGACATTGTGTCTGGG AAGGAAGGGCCAGACCTTGGAACCTTTGGAACCTGCTGTCAACAGGTCTTACAGGGCTGCTTGAACCCTCATAGGCCTAGGCTTTGGTCT AAAAGGAACATTTAAAAAGTTGCCCTGTAAAGTTATTTGGTGTCATTGACCAATTGCATCCCAGCTAAAAAGCAAGAGGCATCGTTGCCT GGATAATAGAGGATGTGTTTCAGCCCTGAGATGTTACAGTTGAAGAGCTTGGTTTTCATTGAGCATTTCTCTATTTTTCCAGTTATCCCC GAAATTTCTATGTATTATATTTTTTGGGGAAGTGAGGTGTGCCCAGTTTTTTAATCTAACAACTACTTTTGGGGACTTGCCCACATCTCT GGGATTTGAATGGGGATTGTATCCCATTTTACTGTCTTTTAGGTTTACATTTACCACGTTTCTCTTCTCTGCTCCCCTTGCCCACTGGGG ACTCCTCTTTGGCTCCTTGAAGTTTGCTGCTTAGAGTTGGAAGTGCAGCAGGCAGGTGATCATGCTGCAAGTTCTTTCTGGACCTCTGGC AAAGGGAGTGGTCAGTGAAGGCCATCGTTACCTTGGGATCTGCCAGGCTGGGGTGTTTTCGGTATCTGCTGTTCACAGCTCTCCACTGTA ATCCGAATACTTTGCCAGTGCACTAATCTCTTTGGAGATAAAATTCATTAGTGTGTTACTAAATGTTAATTTTCTTTTGCGGAAAATACA GTACCGTGTCTGAATTAATTATTAATATTTAAAATACTTCATTCCTTAACTCTCCCTCATTTGCTTTGCCCACAGCCTATTCAGTTCCTT TGTTTGGCAGGATTCTGCAAAATGTGTCTCACCCACTACTGAGATTGTTCAGCCCCTGATGTATTTGTATTGATTTGTTTCTGGTGGTAG CTTGTCCTGAAATGTGTGTAGAAAGCAAGTATTTTATGATAAAAATGTTGTGTAGTGCATGCTCTGTGTGGAATTCAGAGGAAAACCCAG ATTCAGTGATTAACAATGCCAAAAAATGCAAGTAACTAGCCATTGTTCAAATGACAGTGGTGCTATTTCTCTTTTGTGGCCTTTTAGACT TTTGTTGCCCTAAAATTCCATTTTATTGGGAACCCATTTTCCACCTGGTCTTTCTTGACAGGGTTTTTTTCTACTTTAAACAGTTTCTAA >In-frame_AP5M1_ENST00000431972_chr14_57741156_+_MAPRE1_ENST00000375571_chr20_31436476_+_1734nt GAAGGCTTTGTGATACCTGATGAAGGGGGCCCACAGGAGGAGCAAGAAGAGTATTAACAGCCTGGACCAGCAGAGCAACATCGGAATTCT TCACTCCAAATCATGTGCTTAACTGTAAAATACTCCCTTTTGTTATCCTTAGAGGACTCACTGGTTTCTTTTCATAAGCAAAAAGTACCT CTTCTTAAAGTGCACTTTGCAGACGTTTCACTCCTTTTCCAATAAGTTTGAGTTAGGAGCTTTTACCTTGTAGCAGAGCAGTATTAACAC CTAGTTGGTTCACCTGGAAAACAGAGAGGCTGACCGTGGGGCTCACCATGCGGATGCGGGTCACACTGAATGCTGGAGAGATGTTATGTA ATATGCTGAGGTGGCGACCTCAGTGGAGAAATGTAAAGACTGAATTGAATTTTAAGCTAATGTGAAATCAGAGAATGTTGTAATAAGTAA ATGCCTTAAGAGTATTTAAAATATGCTTCCACATTTCAAAATATAAAATGTAACATGACAAGAGATTTTGCGTTTGACATTGTGTCTGGG AAGGAAGGGCCAGACCTTGGAACCTTTGGAACCTGCTGTCAACAGGTCTTACAGGGCTGCTTGAACCCTCATAGGCCTAGGCTTTGGTCT AAAAGGAACATTTAAAAAGTTGCCCTGTAAAGTTATTTGGTGTCATTGACCAATTGCATCCCAGCTAAAAAGCAAGAGGCATCGTTGCCT GGATAATAGAGGATGTGTTTCAGCCCTGAGATGTTACAGTTGAAGAGCTTGGTTTTCATTGAGCATTTCTCTATTTTTCCAGTTATCCCC GAAATTTCTATGTATTATATTTTTTGGGGAAGTGAGGTGTGCCCAGTTTTTTAATCTAACAACTACTTTTGGGGACTTGCCCACATCTCT GGGATTTGAATGGGGATTGTATCCCATTTTACTGTCTTTTAGGTTTACATTTACCACGTTTCTCTTCTCTGCTCCCCTTGCCCACTGGGG ACTCCTCTTTGGCTCCTTGAAGTTTGCTGCTTAGAGTTGGAAGTGCAGCAGGCAGGTGATCATGCTGCAAGTTCTTTCTGGACCTCTGGC AAAGGGAGTGGTCAGTGAAGGCCATCGTTACCTTGGGATCTGCCAGGCTGGGGTGTTTTCGGTATCTGCTGTTCACAGCTCTCCACTGTA ATCCGAATACTTTGCCAGTGCACTAATCTCTTTGGAGATAAAATTCATTAGTGTGTTACTAAATGTTAATTTTCTTTTGCGGAAAATACA GTACCGTGTCTGAATTAATTATTAATATTTAAAATACTTCATTCCTTAACTCTCCCTCATTTGCTTTGCCCACAGCCTATTCAGTTCCTT TGTTTGGCAGGATTCTGCAAAATGTGTCTCACCCACTACTGAGATTGTTCAGCCCCTGATGTATTTGTATTGATTTGTTTCTGGTGGTAG CTTGTCCTGAAATGTGTGTAGAAAGCAAGTATTTTATGATAAAAATGTTGTGTAGTGCATGCTCTGTGTGGAATTCAGAGGAAAACCCAG ATTCAGTGATTAACAATGCCAAAAAATGCAAGTAACTAGCCATTGTTCAAATGACAGTGGTGCTATTTCTCTTTTGTGGCCTTTTAGACT TTTGTTGCCCTAAAATTCCATTTTATTGGGAACCCATTTTCCACCTGGTCTTTCTTGACAGGGTTTTTTTCTACTTTAAACAGTTTCTAA |
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FusionGenePPI for AP5M1_MAPRE1 |
| 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 |
| Tgene | MAPRE1 | chr14:57741156 | chr20:31436476 | ENST00000375571 | + | 5 | 7 | 185_268 | 250 | 269 | CDK5RAP2 |
| Tgene | MAPRE1 | chr14:57741156 | chr20:31436476 | ENST00000375571 | + | 5 | 7 | 124_268 | 250 | 269 | MTUS2/TIP150 |
| - 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 AP5M1_MAPRE1 |
| 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 AP5M1_MAPRE1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AP5M1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | MAPRE1 | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | MAPRE1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
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