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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24696

FusionGeneSummary for NPHP1_RAMP2

check button Fusion gene summary
Fusion gene informationFusion gene name: NPHP1_RAMP2
Fusion gene ID: 24696
HgeneTgene
Gene symbol

NPHP1

RAMP2

Gene ID

4867

10266

Gene namenephrocystin 1receptor activity modifying protein 2
SynonymsJBTS4|NPH1|SLSN1-
Cytomap

2q13

17q21.2

Type of geneprotein-codingprotein-coding
Descriptionnephrocystin-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 date2018051920180523
UniProtAcc

O15259

O60895

Ensembl transtripts involved in fusion geneENST00000316534, ENST00000445609, 
ENST00000393272, ENST00000355301, 
ENST00000417665, ENST00000418527, 
ENST00000591972, ENST00000589683, 
ENST00000253796, ENST00000587142, 
ENST00000588576, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 3 X 2=12
# samples 32
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneRAMP2

GO:0001525

angiogenesis

20596610

TgeneRAMP2

GO:0006816

calcium ion transport

10882736

TgeneRAMP2

GO:0010628

positive regulation of gene expression

18097473

TgeneRAMP2

GO:0015031

protein transport

9620797|10882736

TgeneRAMP2

GO:0031623

receptor internalization

10882736|15613468|20074556

TgeneRAMP2

GO:0034333

adherens junction assembly

18097473

TgeneRAMP2

GO:0043116

negative regulation of vascular permeability

18097473

TgeneRAMP2

GO:0070830

bicellular tight junction assembly

18097473

TgeneRAMP2

GO:0072659

protein localization to plasma membrane

10882736

TgeneRAMP2

GO:2000352

negative regulation of endothelial cell apoptotic process

18097473


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW206715NPHP1chr2

110922073

+RAMP2chr17

40915059

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000316534ENST00000591972NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000316534ENST00000589683NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000316534ENST00000253796NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000316534ENST00000587142NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000316534ENST00000588576NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000445609ENST00000591972NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000445609ENST00000589683NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000445609ENST00000253796NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000445609ENST00000587142NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000445609ENST00000588576NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000393272ENST00000591972NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000393272ENST00000589683NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000393272ENST00000253796NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000393272ENST00000587142NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000393272ENST00000588576NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000355301ENST00000591972NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000355301ENST00000589683NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000355301ENST00000253796NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000355301ENST00000587142NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000355301ENST00000588576NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000417665ENST00000591972NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000417665ENST00000589683NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000417665ENST00000253796NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000417665ENST00000587142NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000417665ENST00000588576NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000418527ENST00000591972NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000418527ENST00000589683NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000418527ENST00000253796NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000418527ENST00000587142NPHP1chr2

110922073

+RAMP2chr17

40915059

-
intron-intronENST00000418527ENST00000588576NPHP1chr2

110922073

+RAMP2chr17

40915059

-

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FusionProtFeatures for NPHP1_RAMP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPHP1

O15259

RAMP2

O60895

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NPHP1_RAMP2


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NPHP1_RAMP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRAMP2O60895DB01278PramlintideReceptor activity-modifying protein 2biotechapproved|investigational

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RelatedDiseases for NPHP1_RAMP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNPHP1C0022658Kidney Diseases1CTD_human;HPO
HgeneNPHP1C1855681Nephronophthisis, familial juvenile1CTD_human;ORPHANET;UNIPROT
TgeneRAMP2C0001418Adenocarcinoma1CTD_human
TgeneRAMP2C0024121Lung Neoplasms1CTD_human
TgeneRAMP2C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneRAMP2C0043094Weight Gain1CTD_human