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Fusion gene ID: 21227 |
FusionGeneSummary for MBP_ALMS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MBP_ALMS1 | Fusion gene ID: 21227 | Hgene | Tgene | Gene symbol | MBP | ALMS1 | Gene ID | 5553 | 7840 |
| Gene name | proteoglycan 2, pro eosinophil major basic protein | ALMS1, centrosome and basal body associated protein | |
| Synonyms | BMPG|MBP|MBP1|proMBP | ALSS | |
| Cytomap | 11q12.1 | 2p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bone marrow proteoglycaneosinophil granule major basic proteineosinophil major basic proteinnatural killer cell activatorproteoglycan 2 preproproteinproteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) | Alstrom syndrome protein 1Alstrom syndrome 1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P02686 | Q8TCU4 | |
| Ensembl transtripts involved in fusion gene | ENST00000382582, ENST00000355994, ENST00000397875, ENST00000397866, ENST00000397865, ENST00000527041, ENST00000359645, ENST00000528160, ENST00000397869, ENST00000354542, ENST00000526111, ENST00000580402, ENST00000579129, ENST00000578193, ENST00000397863, ENST00000397860, ENST00000487778, | ENST00000377715, ENST00000409009, ENST00000264448, ENST00000464408, | |
| Fusion gene scores | * DoF score | 13 X 13 X 3=507 | 3 X 2 X 3=18 |
| # samples | 15 | 5 | |
| ** MAII score | log2(15/507*10)=-1.75702324650746 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/18*10)=1.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MBP [Title/Abstract] AND ALMS1 [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 |
| ChiTaRS3.1 | AV724910 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - | ||
| ChiTaRS3.1 | AV722334 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - | ||
| ChiTaRS3.1 | AV723294 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| * 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-intron | ENST00000382582 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000382582 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000382582 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000382582 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| 5CDS-intron | ENST00000355994 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| 5CDS-intron | ENST00000355994 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| 5CDS-intron | ENST00000355994 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| 5CDS-intron | ENST00000355994 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397875 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397875 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397875 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397875 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397866 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397866 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397866 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397866 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397865 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397865 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397865 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397865 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000527041 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000527041 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000527041 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000527041 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000359645 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000359645 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000359645 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000359645 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000528160 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000528160 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000528160 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000528160 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397869 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397869 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397869 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397869 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000354542 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000354542 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000354542 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000354542 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000526111 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000526111 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000526111 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000526111 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000580402 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000580402 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000580402 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000580402 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000579129 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000579129 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000579129 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000579129 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000578193 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000578193 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000578193 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000578193 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397863 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397863 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397863 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397863 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397860 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397860 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397860 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000397860 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000487778 | ENST00000377715 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000487778 | ENST00000409009 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000487778 | ENST00000264448 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
| intron-intron | ENST00000487778 | ENST00000464408 | MBP | chr18 | 74690794 | - | ALMS1 | chr2 | 73823368 | - |
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FusionProtFeatures for MBP_ALMS1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MBP | ALMS1 |
| Involved in PCM1-dependent intracellular transport.Required, directly or indirectly, for the localization of NCAPD2to the proximal ends of centrioles. Required for proper formationand/or maintenance of primary cilia (PC), microtubule-basedstructures that protrude from the surface of epithelial cells.{ECO:0000269|PubMed:17954613}. |
| 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 MBP_ALMS1 |
| 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 MBP_ALMS1 |
| 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 MBP_ALMS1 |
| 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 MBP_ALMS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MBP | C0036341 | Schizophrenia | 4 | PSYGENET |
| Hgene | MBP | C0014072 | Experimental Autoimmune Encephalomyelitis | 3 | CTD_human |
| Hgene | MBP | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | MBP | C0011303 | Demyelinating Diseases | 1 | CTD_human |
| Hgene | MBP | C0027873 | Neuromyelitis Optica | 1 | CTD_human |
| Tgene | ALMS1 | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human;HPO |
| Tgene | ALMS1 | C0268425 | Alstrom Syndrome | 1 | CTD_human;ORPHANET |
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