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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: 28365

FusionGeneSummary for PPP1R2_CLDN1

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP1R2_CLDN1
Fusion gene ID: 28365
HgeneTgene
Gene symbol

PPP1R2

CLDN1

Gene ID

5504

9076

Gene nameprotein phosphatase 1 regulatory inhibitor subunit 2claudin 1
SynonymsIPP-2|IPP2|PPP1R2ACLD1|ILVASC|SEMP1
Cytomap

3q29

3q28

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase inhibitor 2phosphoprotein phosphataseclaudin-1senescence-associated epithelial membrane protein 1
Modification date2018052320180519
UniProtAcc

P41236

O95832

Ensembl transtripts involved in fusion geneENST00000328432, ENST00000295522, 
Fusion gene scores* DoF score3 X 2 X 3=183 X 3 X 2=18
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPP1R2 [Title/Abstract] AND CLDN1 [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

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
TCGALDLUSCTCGA-56-7223-01APPP1R2chr3

195256595

-CLDN1chr3

190030825

-
* 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
Frame-shitENST00000328432ENST00000295522PPP1R2chr3

195256595

-CLDN1chr3

190030825

-

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FusionProtFeatures for PPP1R2_CLDN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP1R2

P41236

CLDN1

O95832

Inhibitor of protein-phosphatase 1. Claudins function as major constituents of the tightjunction complexes that regulate the permeability of epithelia.While some claudin family members play essential roles in theformation of impermeable barriers, others mediate the permeabilityto ions and small molecules. Often, several claudin family membersare coexpressed and interact with each other, and this determinesthe overall permeability. CLDN1 is required to prevent theparacellular diffusion of small molecules through tight junctionsin the epidermis and is required for the normal barrier functionof the skin. Required for normal water homeostasis and to preventexcessive water loss through the skin, probably via an indirecteffect on the expression levels of other proteins, since CLDN1itself seems to be dispensable for water barrier formation inkeratinocyte tight junctions (PubMed:23407391).{ECO:0000269|PubMed:23407391}. (Microbial infection) Acts as a receptor for hepatitis Cvirus (HCV) in hepatocytes (PubMed:17325668, PubMed:20375010).Associates with CD81 and the CLDN1-CD81 receptor complex isessential for HCV entry into host cell (PubMed:20375010). Acts asa receptor for dengue virus (PubMed:24074594).{ECO:0000269|PubMed:17325668, ECO:0000269|PubMed:20375010,ECO:0000269|PubMed:24074594}.

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 PPP1R2_CLDN1


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 PPP1R2_CLDN1


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
PPP1R2PPP1CB, PPP1R9B, LMTK2, NEK2, PPP1CA, ELAVL1, TERF2IP, TINF2, PPP1CC, CIAPIN1, GSK3A, GSK3B, GINS4, ISOC1, DCPS, G6PD, MSN, NAE1, NCDN, NSFL1C, PDHA1, PDIA4, PRCP, PROSC, RAP1GDS1, TATDN1, TNFAIP8, TUFM, VCL, YWHAE, ZNF622, TP53BP2, PPP1R3A, PPP1R11, KDM2A, PDIA5, POLR2G, PPP1R7, SFN, SLK, SULT1C3, HIST1H2BG, EWSR1, THOC7, GTF2H5CLDN1CLDN3, INADL, TJP2, TJP1, TJP3, LNX1, DRG1


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 PPP1R2_CLDN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PPP1R2_CLDN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCLDN1C1458155Mammary Neoplasms2CTD_human
TgeneCLDN1C0007621Neoplastic Cell Transformation1CTD_human
TgeneCLDN1C0011616Contact Dermatitis1CTD_human
TgeneCLDN1C0014175Endometriosis1CTD_human