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Fusion gene ID: 25936 |
FusionGeneSummary for PAPPA_LRP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PAPPA_LRP2 | Fusion gene ID: 25936 | Hgene | Tgene | Gene symbol | PAPPA | LRP2 | Gene ID | 5069 | 4036 |
| Gene name | pappalysin 1 | LDL receptor related protein 2 | |
| Synonyms | ASBABP2|DIPLA1|IGFBP-4ase|PAPA|PAPP-A|PAPPA1 | DBS|GP330 | |
| Cytomap | 9q33.1 | 2q31.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pappalysin-1IGF-dependent IGFBP-4 proteaseaspecific BCL2 ARE-binding protein 2differentially placenta 1 expressed proteininsulin-like growth factor-dependent IGF binding protein-4 proteasepregnancy-associated plasma protein A, pappalysin 1 | low-density lipoprotein receptor-related protein 2Heymann nephritis antigen homologLRP-2calcium sensor proteinglycoprotein 330megalin | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q13219 | P98164 | |
| Ensembl transtripts involved in fusion gene | ENST00000328252, ENST00000534838, ENST00000483254, | ENST00000263816, ENST00000443831, ENST00000461418, | |
| Fusion gene scores | * DoF score | 12 X 16 X 1=192 | 2 X 2 X 2=8 |
| # samples | 18 | 2 | |
| ** MAII score | log2(18/192*10)=-0.0931094043914815 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PAPPA [Title/Abstract] AND LRP2 [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 | LRP2 | GO:0006898 | receptor-mediated endocytosis | 23825075 |
| Tgene | LRP2 | GO:0030001 | metal ion transport | 15126248 |
| 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 | BQ369809 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| * 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-3UTR | ENST00000328252 | ENST00000263816 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| intron-intron | ENST00000328252 | ENST00000443831 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| intron-intron | ENST00000328252 | ENST00000461418 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| intron-3UTR | ENST00000534838 | ENST00000263816 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| intron-intron | ENST00000534838 | ENST00000443831 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| intron-intron | ENST00000534838 | ENST00000461418 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| intron-3UTR | ENST00000483254 | ENST00000263816 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| intron-intron | ENST00000483254 | ENST00000443831 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
| intron-intron | ENST00000483254 | ENST00000461418 | PAPPA | chr9 | 118988097 | - | LRP2 | chr2 | 169983795 | - |
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FusionProtFeatures for PAPPA_LRP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PAPPA | LRP2 |
| Metalloproteinase which specifically cleaves IGFBP-4 andIGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 isdramatically enhanced by the presence of IGF, whereas cleavage ofIGFBP-5 is slightly inhibited by the presence of IGF.{ECO:0000269|PubMed:10077652, ECO:0000269|PubMed:10913121,ECO:0000269|PubMed:11522292}. | Multiligand endocytic receptor (By similarity). Actstogether with CUBN to mediate endocytosis of high-densitylipoproteins (By similarity). Mediates receptor-mediated uptake ofpolybasic drugs such as aprotinin, aminoglycosides and polymyxin B(By similarity). In the kidney, mediates the tubular uptake andclearance of leptin (By similarity). Also mediates transport ofleptin across the blood-brain barrier through endocytosis at thechoroid plexus epithelium (By similarity). Endocytosis of leptinin neuronal cells is required for hypothalamic leptin signalingand leptin-mediated regulation of feeding and body weight (Bysimilarity). Mediates endocytosis and subsequent lysosomaldegradation of CST3 in kidney proximal tubule cells (Bysimilarity). Mediates renal uptake of 25-hydroxyvitamin D3 incomplex with the vitamin D3 transporter GC/DBP (By similarity).Mediates renal uptake of metallothionein-bound heavy metals(PubMed:15126248). Together with CUBN, mediates renal reabsorptionof myoglobin (By similarity). Mediates renal uptake and subsequentlysosomal degradation of APOM (By similarity). Plays a role inkidney selenium homeostasis by mediating renal endocytosis ofselenoprotein SEPP1 (By similarity). Mediates renal uptake of theantiapoptotic protein BIRC5/survivin which may be important forfunctional integrity of the kidney (PubMed:23825075). Mediatesrenal uptake of matrix metalloproteinase MMP2 in complex withmetalloproteinase inhibitor TIMP1 (By similarity). Mediatesendocytosis of Sonic hedgehog protein N-product (ShhN), the activeproduct of SHH (By similarity). Also mediates ShhN transcytosis(By similarity). In the embryonic neuroepithelium, mediatesendocytic uptake and degradation of BMP4, is required for correctSHH localization in the ventral neural tube and plays a role inpatterning of the ventral telencephalon (By similarity). Requiredat the onset of neurulation to sequester SHH on the apical surfaceof neuroepithelial cells of the rostral diencephalon ventralmidline and to control PTCH1-dependent uptake and intracellulartrafficking of SHH (By similarity). During neurulation, requiredin neuroepithelial cells for uptake of folate bound to the folatereceptor FOLR1 which is necessary for neural tube closure (Bysimilarity). In the adult brain, negatively regulates BMPsignaling in the subependymal zone which enables neurogenesis toproceed (By similarity). In astrocytes, mediates endocytosis ofALB which is required for the synthesis of the neurotrophic factoroleic acid (By similarity). Involved in neurite branching (Bysimilarity). During optic nerve development, required for SHH-mediated migration and proliferation of oligodendrocyte precursorcells (By similarity). Mediates endocytic uptake and clearance ofSHH in the retinal margin which protects retinal progenitor cellsfrom mitogenic stimuli and keeps them quiescent (By similarity).Plays a role in reproductive organ development by mediating uptakein reproductive tissues of androgen and estrogen bound to the sexhormone binding protein SHBG (By similarity). Mediates endocytosisof angiotensin-2 (By similarity). Also mediates endocytosis ofangiotensis 1-7 (By similarity). Binds to the complex composed ofbeta-amyloid protein 40 and CLU/APOJ and mediates its endocytosisand lysosomal degradation (By similarity). Required for embryonicheart development (By similarity). Required for normal hearing,possibly through interaction with estrogen in the inner ear (Bysimilarity). {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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FusionGeneSequence for PAPPA_LRP2 |
| 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 PAPPA_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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RelatedDrugs for PAPPA_LRP2 |
| 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 |
| Tgene | LRP2 | P98164 | DB00071 | Insulin Pork | Low-density lipoprotein receptor-related protein 2 | biotech | approved |
| Tgene | LRP2 | P98164 | DB00030 | Insulin Human | Low-density lipoprotein receptor-related protein 2 | biotech | approved|investigational |
| Tgene | LRP2 | P98164 | DB00013 | Urokinase | Low-density lipoprotein receptor-related protein 2 | biotech | approved|investigational|withdrawn |
| Tgene | LRP2 | P98164 | DB00798 | Gentamicin | Low-density lipoprotein receptor-related protein 2 | small molecule | approved|vet_approved |
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RelatedDiseases for PAPPA_LRP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PAPPA | C0002965 | Angina, Unstable | 1 | CTD_human |
| Hgene | PAPPA | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | PAPPA | C0021361 | Female infertility | 1 | CTD_human |
| Hgene | PAPPA | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | PAPPA | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| Hgene | PAPPA | C1956346 | Coronary Artery Disease | 1 | CTD_human |
| 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;HPO |
| Tgene | LRP2 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Tgene | LRP2 | C0022658 | Kidney Diseases | 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 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | LRP2 | C1857277 | Donnai-Barrow syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
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