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Fusion gene ID: 24696 |
FusionGeneSummary for NPHP1_RAMP2 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NPHP1_RAMP2 |
![]() (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 |
![]() (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 |