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Fusion gene ID: 24696 |
FusionGeneSummary for NPHP1_RAMP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NPHP1_RAMP2 | Fusion gene ID: 24696 | Hgene | Tgene | Gene symbol | NPHP1 | RAMP2 | Gene ID | 4867 | 10266 |
| Gene name | nephrocystin 1 | receptor activity modifying protein 2 | |
| Synonyms | JBTS4|NPH1|SLSN1 | - | |
| Cytomap | 2q13 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nephrocystin-1juvenile nephronophthisis 1 proteinnephronophthisis 1 (juvenile) | receptor activity-modifying protein 2CRLR activity-modifying protein 2calcitonin receptor-like receptor activity modifying protein 2receptor (G protein-coupled) activity modifying protein 2receptor (calcitonin) activity modifying protein 2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O15259 | O60895 | |
| Ensembl transtripts involved in fusion gene | ENST00000316534, ENST00000445609, ENST00000393272, ENST00000355301, ENST00000417665, ENST00000418527, | ENST00000591972, ENST00000589683, ENST00000253796, ENST00000587142, ENST00000588576, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 3 X 2=12 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: NPHP1 [Title/Abstract] AND RAMP2 [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 | RAMP2 | GO:0001525 | angiogenesis | 20596610 |
| Tgene | RAMP2 | GO:0006816 | calcium ion transport | 10882736 |
| Tgene | RAMP2 | GO:0010628 | positive regulation of gene expression | 18097473 |
| Tgene | RAMP2 | GO:0015031 | protein transport | 9620797|10882736 |
| Tgene | RAMP2 | GO:0031623 | receptor internalization | 10882736|15613468|20074556 |
| Tgene | RAMP2 | GO:0034333 | adherens junction assembly | 18097473 |
| Tgene | RAMP2 | GO:0043116 | negative regulation of vascular permeability | 18097473 |
| Tgene | RAMP2 | GO:0070830 | bicellular tight junction assembly | 18097473 |
| Tgene | RAMP2 | GO:0072659 | protein localization to plasma membrane | 10882736 |
| Tgene | RAMP2 | GO:2000352 | negative regulation of endothelial cell apoptotic process | 18097473 |
| 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 | AW206715 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| * 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 | ENST00000316534 | ENST00000591972 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000316534 | ENST00000589683 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000316534 | ENST00000253796 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000316534 | ENST00000587142 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000316534 | ENST00000588576 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000445609 | ENST00000591972 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000445609 | ENST00000589683 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000445609 | ENST00000253796 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000445609 | ENST00000587142 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000445609 | ENST00000588576 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000393272 | ENST00000591972 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000393272 | ENST00000589683 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000393272 | ENST00000253796 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000393272 | ENST00000587142 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000393272 | ENST00000588576 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000355301 | ENST00000591972 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000355301 | ENST00000589683 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000355301 | ENST00000253796 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000355301 | ENST00000587142 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000355301 | ENST00000588576 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000417665 | ENST00000591972 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000417665 | ENST00000589683 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000417665 | ENST00000253796 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000417665 | ENST00000587142 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000417665 | ENST00000588576 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000418527 | ENST00000591972 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000418527 | ENST00000589683 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000418527 | ENST00000253796 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000418527 | ENST00000587142 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
| intron-intron | ENST00000418527 | ENST00000588576 | NPHP1 | chr2 | 110922073 | + | RAMP2 | chr17 | 40915059 | - |
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FusionProtFeatures for NPHP1_RAMP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NPHP1 | RAMP2 |
| Together with BCAR1 it may play a role in the control ofepithelial cell polarity. Involved in the organization of apicaljunctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8(By similarity). Does not seem to be strictly required forciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2to cell matrix adhesions, thereby initiating phosphorylation ofPTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role inthe regulation of intraflagellar transport (IFT) during ciliaassembly. Required for normal retina development. In connectingphotoreceptor cilia influences the movement of some IFT proteinssuch as IFT88 and WDR19. Involved in spermatogenesis (Bysimilarity). {ECO:0000250}. | Transports the calcitonin gene-related peptide type 1receptor (CALCRL) to the plasma membrane. Acts as a receptor foradrenomedullin (AM) together with CALCRL.{ECO:0000269|PubMed:22102369, ECO:0000269|PubMed:9620797}. |
| 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 NPHP1_RAMP2 |
| 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 NPHP1_RAMP2 |
| 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 NPHP1_RAMP2 |
| 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 | RAMP2 | O60895 | DB01278 | Pramlintide | Receptor activity-modifying protein 2 | biotech | approved|investigational |
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RelatedDiseases for NPHP1_RAMP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NPHP1 | C0022658 | Kidney Diseases | 1 | CTD_human;HPO |
| Hgene | NPHP1 | C1855681 | Nephronophthisis, familial juvenile | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | RAMP2 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | RAMP2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | RAMP2 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Tgene | RAMP2 | C0043094 | Weight Gain | 1 | CTD_human |
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