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Fusion gene ID: 22513 |
FusionGeneSummary for MRPL48_LRP5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MRPL48_LRP5 | Fusion gene ID: 22513 | Hgene | Tgene | Gene symbol | MRPL48 | LRP5 | Gene ID | 51642 | 4041 |
| Gene name | mitochondrial ribosomal protein L48 | LDL receptor related protein 5 | |
| Synonyms | CGI-118|HSPC290|L48MT|MRP-L48 | BMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2 | |
| Cytomap | 11q13.4 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 39S ribosomal protein L48, mitochondrialmitochondrial large ribosomal subunit protein mL48 | low-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96GC5 | O75197 | |
| Ensembl transtripts involved in fusion gene | ENST00000310614, ENST00000535529, ENST00000411840, ENST00000398483, ENST00000542303, ENST00000314282, | ENST00000294304, ENST00000529481, | |
| Fusion gene scores | * DoF score | 11 X 4 X 8=352 | 10 X 9 X 7=630 |
| # samples | 17 | 12 | |
| ** MAII score | log2(17/352*10)=-1.0500406824996 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/630*10)=-2.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MRPL48 [Title/Abstract] AND LRP5 [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 | LRP5 | GO:0008284 | positive regulation of cell proliferation | 9790987 |
| Tgene | LRP5 | GO:0016055 | Wnt signaling pathway | 17955262 |
| Tgene | LRP5 | GO:0044332 | Wnt signaling pathway involved in dorsal/ventral axis specification | 11029007 |
| Tgene | LRP5 | GO:0045840 | positive regulation of mitotic nuclear division | 9790987 |
| Tgene | LRP5 | GO:0045893 | positive regulation of transcription, DNA-templated | 15035989|17955262 |
| Tgene | LRP5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12857724 |
| Tgene | LRP5 | GO:0060070 | canonical Wnt signaling pathway | 12121999|12857724|15035989 |
| 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 | LIHC | TCGA-DD-AADY-01A | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| * 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 |
| Frame-shift | ENST00000310614 | ENST00000294304 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| 5CDS-intron | ENST00000310614 | ENST00000529481 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| Frame-shift | ENST00000535529 | ENST00000294304 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| 5CDS-intron | ENST00000535529 | ENST00000529481 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| 5UTR-3CDS | ENST00000411840 | ENST00000294304 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| 5UTR-intron | ENST00000411840 | ENST00000529481 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| 5UTR-3CDS | ENST00000398483 | ENST00000294304 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| 5UTR-intron | ENST00000398483 | ENST00000529481 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| Frame-shift | ENST00000542303 | ENST00000294304 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| 5CDS-intron | ENST00000542303 | ENST00000529481 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| intron-3CDS | ENST00000314282 | ENST00000294304 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
| intron-intron | ENST00000314282 | ENST00000529481 | MRPL48 | chr11 | 73536841 | + | LRP5 | chr11 | 68115315 | + |
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FusionProtFeatures for MRPL48_LRP5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MRPL48 | LRP5 |
| Component of the Wnt-Fzd-LRP5-LRP6 complex that triggersbeta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surfacecoreceptor of Wnt/beta-catenin signaling, which plays a pivotalrole in bone formation. Plays a role in norrin (NDP) signaltransduction (PubMed:27228167). The Wnt-induced Fzd/LRP6coreceptor complex recruits DVL1 polymers to the plasma membranewhich, in turn, recruits the AXIN1/GSK3B-complex to the cellsurface promoting the formation of signalsomes and inhibitingAXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Appears be required for postnatal control of vascularregression in the eye (By similarity). Required for posteriorpatterning of the epiblast during gastrulation (By similarity).{ECO:0000250|UniProtKB:Q91VN0, ECO:0000269|PubMed:11336703,ECO:0000269|PubMed:11448771, ECO:0000269|PubMed:14727154,ECO:0000269|PubMed:14731402, ECO:0000269|PubMed:15778503,ECO:0000269|PubMed:27228167}. |
| 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 MRPL48_LRP5 |
| 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 MRPL48_LRP5 |
| 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 |
| MRPL48 | OXA1L, ICT1, APP, HNRNPU, EXOSC2, LSM8, TARDBP, GRSF1, RNF2, BTRC, RPL13, NIFK, MRPL46, MRPL4, MRPL39, MRPS30, MRPL47, HNRNPA1, MRPL9, MRPL55, SDHB, CRK, RPL10, AP4M1, EXOSC4, MRPL50, CDC14B, MRPL10, MRPL41, RPL18, MRPL12, MRPL42, MRPL35 | LRP5 | AXIN1, SMAD9, CAPRIN2, SOST, DKK1, FZD8, TAZ, RASD2, SUSD4, PARP16, POMK, B3GALT2, ETV6, CHST9, LIPH, PRSS37, CSNK1A1, TGIF2LY, DKKL1, SERPINA12, ST8SIA4, SCGB1D1, DKK4, MGAT4C, F9, FAM3B, C4orf26, FCGRT, PODN, ADAM33, BRINP3, LRRC4C, CLPSL1, NXPH2, TRIM25 |
| - 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 MRPL48_LRP5 |
| 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 MRPL48_LRP5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LRP5 | C0432252 | Osteoporosis with pseudoglioma | 8 | CTD_human;ORPHANET;UNIPROT |
| Tgene | LRP5 | C1866176 | EXUDATIVE VITREORETINOPATHY 4 (disorder) | 8 | CTD_human;UNIPROT |
| Tgene | LRP5 | C1866079 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 | 5 | UNIPROT |
| Tgene | LRP5 | C0242852 | Proliferative vitreoretinopathy | 1 | CTD_human |
| Tgene | LRP5 | C0432273 | Worth disease | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | LRP5 | C1843330 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | LRP5 | C1851402 | Exudative vitreoretinopathy 1 | 1 | ORPHANET;UNIPROT |
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