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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:NPHP1-DDR2 (FusionGDB2 ID:59896) |
Fusion Gene Summary for NPHP1-DDR2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NPHP1-DDR2 | Fusion gene ID: 59896 | Hgene | Tgene | Gene symbol | NPHP1 | DDR2 | Gene ID | 4867 | 4921 |
| Gene name | nephrocystin 1 | discoidin domain receptor tyrosine kinase 2 | |
| Synonyms | JBTS4|NPH1|SLSN1 | MIG20a|NTRKR3|TKT|TYRO10|WRCN | |
| Cytomap | 2q13 | 1q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nephrocystin-1juvenile nephronophthisis 1 proteinnephronophthisis 1 (juvenile) | discoidin domain-containing receptor 2CD167 antigen-like family member Bcell migration-inducing protein 20discoidin domain receptor 2discoidin domain receptor family, member 2discoidin domain-containing receptor tyrosine kinase 2hydroxyaryl-protein | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | O15259 | Q16832 | |
| Ensembl transtripts involved in fusion gene | ENST00000316534, ENST00000355301, ENST00000393272, ENST00000417665, ENST00000418527, ENST00000445609, | ENST00000367922, ENST00000367921, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 9 X 8 X 6=432 |
| # samples | 3 | 11 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/432*10)=-1.97352778863881 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NPHP1 [Title/Abstract] AND DDR2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | NPHP1(110958998)-DDR2(162753587), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | DDR2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 20004161 |
| Tgene | DDR2 | GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway | 16186108 |
| Tgene | DDR2 | GO:0046777 | protein autophosphorylation | 16186108 |
| Fusion gene breakpoints across NPHP1 (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 DDR2 (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 | BRCA | TCGA-C8-A12U-01A | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
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Fusion Gene ORF analysis for NPHP1-DDR2 |
| 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 |
| 5CDS-3UTR | ENST00000316534 | ENST00000367922 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-3UTR | ENST00000355301 | ENST00000367922 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-3UTR | ENST00000393272 | ENST00000367922 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-3UTR | ENST00000417665 | ENST00000367922 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-3UTR | ENST00000418527 | ENST00000367922 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-3UTR | ENST00000445609 | ENST00000367922 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-intron | ENST00000316534 | ENST00000367921 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-intron | ENST00000355301 | ENST00000367921 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-intron | ENST00000393272 | ENST00000367921 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-intron | ENST00000417665 | ENST00000367921 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-intron | ENST00000418527 | ENST00000367921 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 5CDS-intron | ENST00000445609 | ENST00000367921 | NPHP1 | chr2 | 110958998 | - | DDR2 | chr1 | 162753587 | + |
| 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 NPHP1-DDR2 |
| 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 NPHP1-DDR2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:110958998/:162753587) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NPHP1 | DDR2 |
| FUNCTION: Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity). {ECO:0000250|UniProtKB:Q9QY53}. | FUNCTION: Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416). It functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing. {ECO:0000269|PubMed:16186104, ECO:0000269|PubMed:16186108, ECO:0000269|PubMed:17665456, ECO:0000269|PubMed:18201965, ECO:0000269|PubMed:20004161, ECO:0000269|PubMed:20564243, ECO:0000269|PubMed:20734453, ECO:0000269|PubMed:30449416, ECO:0000269|PubMed:9659899}. |
| 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 NPHP1-DDR2 |
| 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 NPHP1-DDR2 |
| 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 NPHP1-DDR2 |
| 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 |
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Related Diseases for NPHP1-DDR2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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