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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:POFUT2-LRP2 (FusionGDB2 ID:66424) |
Fusion Gene Summary for POFUT2-LRP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POFUT2-LRP2 | Fusion gene ID: 66424 | Hgene | Tgene | Gene symbol | POFUT2 | LRP2 | Gene ID | 23275 | 4036 |
| Gene name | protein O-fucosyltransferase 2 | LDL receptor related protein 2 | |
| Synonyms | C21orf80|FUT13 | DBS|GP330|LRP-2 | |
| Cytomap | 21q22.3 | 2q31.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | GDP-fucose protein O-fucosyltransferase 2O-FucT-2peptide-O-fucosyltransferase 2 | low-density lipoprotein receptor-related protein 2Heymann nephritis antigen homologcalcium sensor proteinglycoprotein 330megalin | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | P98164 | |
| Ensembl transtripts involved in fusion gene | ENST00000471540, ENST00000349485, ENST00000331343, | ENST00000263816, ENST00000443831, ENST00000461418, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 4 X 4 X 2=32 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: POFUT2 [Title/Abstract] AND LRP2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | POFUT2(46707656)-LRP2(170151220), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | POFUT2-LRP2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. POFUT2-LRP2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * 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 |
| Hgene | POFUT2 | GO:0036066 | protein O-linked fucosylation | 22588082 |
| Hgene | POFUT2 | GO:0051046 | regulation of secretion | 17395589 |
| Tgene | LRP2 | GO:0006898 | receptor-mediated endocytosis | 23825075 |
| Tgene | LRP2 | GO:0015031 | protein transport | 17324488 |
| Tgene | LRP2 | GO:0030001 | metal ion transport | 15126248 |
| Tgene | LRP2 | GO:0044321 | response to leptin | 17324488 |
| Fusion gene breakpoints across POFUT2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across LRP2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LUAD | TCGA-64-5779-01A | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
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Fusion Gene ORF analysis for POFUT2-LRP2 |
| 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 | ENST00000471540 | ENST00000263816 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| intron-3CDS | ENST00000471540 | ENST00000443831 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| intron-intron | ENST00000471540 | ENST00000461418 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| Frame-shift | ENST00000349485 | ENST00000263816 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| Frame-shift | ENST00000349485 | ENST00000443831 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| 5CDS-intron | ENST00000349485 | ENST00000461418 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| Frame-shift | ENST00000331343 | ENST00000263816 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| Frame-shift | ENST00000331343 | ENST00000443831 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| 5CDS-intron | ENST00000331343 | ENST00000461418 | POFUT2 | chr21 | 46707656 | - | LRP2 | chr2 | 170151220 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for POFUT2-LRP2 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for POFUT2-LRP2 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | LRP2 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hypothalamic leptin signaling and leptin-mediated regulation of feeding and body weight (By similarity). Mediates endocytosis and subsequent lysosomal degradation of CST3 in kidney proximal tubule cells (By similarity). Mediates renal uptake of 25-hydroxyvitamin D3 in complex with the vitamin D3 transporter GC/DBP (By similarity). Mediates renal uptake of metallothionein-bound heavy metals (PubMed:15126248). Together with CUBN, mediates renal reabsorption of myoglobin (By similarity). Mediates renal uptake and subsequent lysosomal degradation of APOM (By similarity). Plays a role in kidney selenium homeostasis by mediating renal endocytosis of selenoprotein SEPP1 (By similarity). Mediates renal uptake of the antiapoptotic protein BIRC5/survivin which may be important for functional integrity of the kidney (PubMed:23825075). Mediates renal uptake of matrix metalloproteinase MMP2 in complex with metalloproteinase inhibitor TIMP1 (By similarity). Mediates endocytosis of Sonic hedgehog protein N-product (ShhN), the active product of SHH (By similarity). Also mediates ShhN transcytosis (By similarity). In the embryonic neuroepithelium, mediates endocytic uptake and degradation of BMP4, is required for correct SHH localization in the ventral neural tube and plays a role in patterning of the ventral telencephalon (By similarity). Required at the onset of neurulation to sequester SHH on the apical surface of neuroepithelial cells of the rostral diencephalon ventral midline and to control PTCH1-dependent uptake and intracellular trafficking of SHH (By similarity). During neurulation, required in neuroepithelial cells for uptake of folate bound to the folate receptor FOLR1 which is necessary for neural tube closure (By similarity). In the adult brain, negatively regulates BMP signaling in the subependymal zone which enables neurogenesis to proceed (By similarity). In astrocytes, mediates endocytosis of ALB which is required for the synthesis of the neurotrophic factor oleic acid (By similarity). Involved in neurite branching (By similarity). During optic nerve development, required for SHH-mediated migration and proliferation of oligodendrocyte precursor cells (By similarity). Mediates endocytic uptake and clearance of SHH in the retinal margin which protects retinal progenitor cells from mitogenic stimuli and keeps them quiescent (By similarity). Plays a role in reproductive organ development by mediating uptake in reproductive tissues of androgen and estrogen bound to the sex hormone binding protein SHBG (By similarity). Mediates endocytosis of angiotensin-2 (By similarity). Also mediates endocytosis of angiotensis 1-7 (By similarity). Binds to the complex composed of beta-amyloid protein 40 and CLU/APOJ and mediates its endocytosis and lysosomal degradation (By similarity). Required for embryonic heart development (By similarity). Required for normal hearing, possibly through interaction with estrogen in the inner ear (By similarity). {ECO:0000250|UniProtKB:A2ARV4, ECO:0000250|UniProtKB:C0HL13, ECO:0000250|UniProtKB:P98158, ECO:0000269|PubMed:15126248, ECO:0000269|PubMed:23825075}. |
| 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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Fusion Gene Sequence for POFUT2-LRP2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for POFUT2-LRP2 |
| 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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Related Drugs for POFUT2-LRP2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | LRP2 | P98164 | DB00071 | Insulin pork | Biotech | Approved | |
| Tgene | LRP2 | P98164 | DB00013 | Urokinase | Substrate | Biotech | Approved|Investigational|Withdrawn |
| Tgene | LRP2 | P98164 | DB00798 | Gentamicin | Other/unknown | Small molecule | Approved|Vet_approved |
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Related Diseases for POFUT2-LRP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LRP2 | C1857277 | Donnai-Barrow syndrome | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | LRP2 | C0005944 | Metabolic Bone Disorder | 1 | CTD_human |
| Tgene | LRP2 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Tgene | LRP2 | C0015398 | Eye Diseases, Hereditary | 1 | CTD_human |
| Tgene | LRP2 | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human |
| Tgene | LRP2 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Tgene | LRP2 | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | LRP2 | C0022660 | Kidney Failure, Acute | 1 | CTD_human |
| Tgene | LRP2 | C0029453 | Osteopenia | 1 | CTD_human |
| Tgene | LRP2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | LRP2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | LRP2 | C0042870 | Vitamin D Deficiency | 1 | CTD_human |
| Tgene | LRP2 | C0085996 | Child Development Deviations | 1 | CTD_human |
| Tgene | LRP2 | C0085997 | Child Development Disorders, Specific | 1 | CTD_human |
| Tgene | LRP2 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
| Tgene | LRP2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | LRP2 | C1565662 | Acute Kidney Insufficiency | 1 | CTD_human |
| Tgene | LRP2 | C1691779 | Sensory hearing loss | 1 | CTD_human |
| Tgene | LRP2 | C2609414 | Acute kidney injury | 1 | CTD_human |
| Tgene | LRP2 | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
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