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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: 27423

FusionGeneSummary for PKP4_PSEN1

check button Fusion gene summary
Fusion gene informationFusion gene name: PKP4_PSEN1
Fusion gene ID: 27423
HgeneTgene
Gene symbol

PKP4

PSEN1

Gene ID

8502

5663

Gene nameplakophilin 4presenilin 1
Synonymsp0071ACNINV3|AD3|FAD|PS-1|PS1|S182
Cytomap

2q24.1

14q24.2

Type of geneprotein-codingprotein-coding
Descriptionplakophilin-4catenin 4presenilin-1presenilin-1 isoform I-467
Modification date2018052720180527
UniProtAcc

Q99569

P49768

Ensembl transtripts involved in fusion geneENST00000389757, ENST00000389759, 
ENST00000495123, 
ENST00000357710, 
ENST00000324501, ENST00000344094, 
ENST00000261970, ENST00000394164, 
ENST00000557511, ENST00000406768, 
ENST00000394157, ENST00000553447, 
Fusion gene scores* DoF score7 X 7 X 3=1473 X 3 X 1=9
# samples 76
** MAII scorelog2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/9*10)=2.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PKP4 [Title/Abstract] AND PSEN1 [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
HgenePKP4

GO:0043547

positive regulation of GTPase activity

17115030

TgenePSEN1

GO:0006509

membrane protein ectodomain proteolysis

15274632

TgenePSEN1

GO:0016485

protein processing

15274632

TgenePSEN1

GO:0032469

endoplasmic reticulum calcium ion homeostasis

17431506

TgenePSEN1

GO:0042325

regulation of phosphorylation

9689133

TgenePSEN1

GO:0042982

amyloid precursor protein metabolic process

26280335

TgenePSEN1

GO:0043066

negative regulation of apoptotic process

10805794

TgenePSEN1

GO:0043085

positive regulation of catalytic activity

15274632


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
ChiTaRS3.1BE090298PKP4chr2

159535154

+PSEN1chr14

73686042

+
* 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
5CDS-3UTRENST00000389757ENST00000357710PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389757ENST00000324501PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389757ENST00000344094PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389757ENST00000261970PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389757ENST00000394164PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-intronENST00000389757ENST00000557511PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389757ENST00000406768PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-intronENST00000389757ENST00000394157PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-intronENST00000389757ENST00000553447PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389759ENST00000357710PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389759ENST00000324501PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389759ENST00000344094PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389759ENST00000261970PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389759ENST00000394164PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-intronENST00000389759ENST00000557511PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-3UTRENST00000389759ENST00000406768PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-intronENST00000389759ENST00000394157PKP4chr2

159535154

+PSEN1chr14

73686042

+
5CDS-intronENST00000389759ENST00000553447PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-3UTRENST00000495123ENST00000357710PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-3UTRENST00000495123ENST00000324501PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-3UTRENST00000495123ENST00000344094PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-3UTRENST00000495123ENST00000261970PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-3UTRENST00000495123ENST00000394164PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-intronENST00000495123ENST00000557511PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-3UTRENST00000495123ENST00000406768PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-intronENST00000495123ENST00000394157PKP4chr2

159535154

+PSEN1chr14

73686042

+
intron-intronENST00000495123ENST00000553447PKP4chr2

159535154

+PSEN1chr14

73686042

+

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FusionProtFeatures for PKP4_PSEN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PKP4

Q99569

PSEN1

P49768

Plays a role as a regulator of Rho activity duringcytokinesis. May play a role in junctional plaques.{ECO:0000269|PubMed:17115030}. Catalytic subunit of the gamma-secretase complex, anendoprotease complex that catalyzes the intramembrane cleavage ofintegral membrane proteins such as Notch receptors and APP(amyloid-beta precursor protein) (PubMed:15274632,PubMed:10545183, PubMed:10593990, PubMed:10206644,PubMed:10899933, PubMed:10811883, PubMed:12679784,PubMed:12740439, PubMed:25043039, PubMed:26280335). Requires thepresence of the other members of the gamma-secretase complex forprotease activity (PubMed:15274632, PubMed:25043039,PubMed:26280335). Plays a role in Notch and Wnt signaling cascadesand regulation of downstream processes via its role in processingkey regulatory proteins, and by regulating cytosolic CTNNB1 levels(PubMed:9738936, PubMed:10593990, PubMed:10899933,PubMed:10811883). Stimulates cell-cell adhesion via itsinteraction with CDH1; this stabilizes the complexes between CDH1(E-cadherin) and its interaction partners CTNNB1 (beta-catenin),CTNND1 and JUP (gamma-catenin) (PubMed:11953314). Under conditionsof apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314).This promotes the disassembly of the complexes between CDH1 andCTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1,and thereby negatively regulates Wnt signaling (PubMed:9738936,PubMed:11953314). Required for normal embryonic brain and skeletondevelopment, and for normal angiogenesis (By similarity).{ECO:0000250|UniProtKB:P49769, ECO:0000269|PubMed:10206644,ECO:0000269|PubMed:10545183, ECO:0000269|PubMed:10593990,ECO:0000269|PubMed:10811883, ECO:0000269|PubMed:10899933,ECO:0000269|PubMed:11953314, ECO:0000269|PubMed:12679784,ECO:0000269|PubMed:12740439, ECO:0000269|PubMed:15274632,ECO:0000269|PubMed:15341515, ECO:0000269|PubMed:16305624,ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335,ECO:0000269|PubMed:9738936}.

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 PKP4_PSEN1


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 PKP4_PSEN1


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 PKP4_PSEN1


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 PKP4_PSEN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePSEN1C1843013Alzheimer disease, familial, type 338UNIPROT
TgenePSEN1C0002395Alzheimer's Disease12CTD_human;HPO;ORPHANET
TgenePSEN1C0011570Mental Depression5PSYGENET
TgenePSEN1C0011581Depressive disorder5HPO;PSYGENET
TgenePSEN1C0236642Pick Disease of the Brain2CTD_human
TgenePSEN1C0002726Amyloidosis1CTD_human
TgenePSEN1C0004045Asphyxia Neonatorum1CTD_human
TgenePSEN1C0007193Cardiomyopathy, Dilated1CTD_human;HPO
TgenePSEN1C0023186Learning Disorders1CTD_human
TgenePSEN1C0025261Memory Disorders1CTD_human
TgenePSEN1C0027746Nerve Degeneration1CTD_human
TgenePSEN1C0038002Splenomegaly1CTD_human
TgenePSEN1C0338451Frontotemporal dementia1CTD_human;HPO;UNIPROT
TgenePSEN1C0524851Neurodegenerative Disorders1CTD_human
TgenePSEN1C1840560Hidradenitis suppurativa, familial1CTD_human
TgenePSEN1C3160720Cardiomyopathy, Dilated, 1u1CTD_human;UNIPROT