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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: 29086

FusionGeneSummary for PSEN1_TOPORS

check button Fusion gene summary
Fusion gene informationFusion gene name: PSEN1_TOPORS
Fusion gene ID: 29086
HgeneTgene
Gene symbol

PSEN1

TOPORS

Gene ID

5663

10210

Gene namepresenilin 1TOP1 binding arginine/serine rich protein
SynonymsACNINV3|AD3|FAD|PS-1|PS1|S182LUN|P53BP3|RP31|TP53BPL
Cytomap

14q24.2

9p21.1

Type of geneprotein-codingprotein-coding
Descriptionpresenilin-1presenilin-1 isoform I-467E3 ubiquitin-protein ligase ToporsRING-type E3 ubiquitin transferase ToporsSUMO1-protein E3 ligase Toporstopoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligasetopoisomerase I-binding RING finger proteintumor suppressor p53-binding
Modification date2018052720180519
UniProtAcc

P49768

Q9NS56

Ensembl transtripts involved in fusion geneENST00000357710, ENST00000324501, 
ENST00000344094, ENST00000261970, 
ENST00000394164, ENST00000557511, 
ENST00000406768, ENST00000394157, 
ENST00000553447, 		ENST00000360538, 
ENST00000379858, 
Fusion gene scores* DoF score5 X 4 X 3=602 X 2 X 1=4
# samples 62
** MAII scorelog2(6/60*10)=0log2(2/4*10)=2.32192809488736
Context

PubMed: PSEN1 [Title/Abstract] AND TOPORS [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
HgenePSEN1

GO:0006509

membrane protein ectodomain proteolysis

15274632

HgenePSEN1

GO:0016485

protein processing

15274632

HgenePSEN1

GO:0032469

endoplasmic reticulum calcium ion homeostasis

17431506

HgenePSEN1

GO:0042325

regulation of phosphorylation

9689133

HgenePSEN1

GO:0042982

amyloid precursor protein metabolic process

26280335

HgenePSEN1

GO:0043066

negative regulation of apoptotic process

10805794

HgenePSEN1

GO:0043085

positive regulation of catalytic activity

15274632

TgeneTOPORS

GO:0000209

protein polyubiquitination

15247280

TgeneTOPORS

GO:0006513

protein monoubiquitination

15247280

TgeneTOPORS

GO:0006974

cellular response to DNA damage stimulus

15735665

TgeneTOPORS

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

20188669

TgeneTOPORS

GO:0016925

protein sumoylation

17803295

TgeneTOPORS

GO:0051443

positive regulation of ubiquitin-protein transferase activity

15247280

TgeneTOPORS

GO:0051457

maintenance of protein location in nucleus

14516784

TgeneTOPORS

GO:0070936

protein K48-linked ubiquitination

15247280


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
ChiTaRS3.1BF839841PSEN1chr14

73686233

-TOPORSchr9

32542623

+
* 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
3UTR-3CDSENST00000357710ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000357710ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000324501ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000324501ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000344094ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000344094ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000261970ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000261970ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000394164ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000394164ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+
intron-3CDSENST00000557511ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
intron-3CDSENST00000557511ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000406768ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
3UTR-3CDSENST00000406768ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+
intron-3CDSENST00000394157ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
intron-3CDSENST00000394157ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+
intron-3CDSENST00000553447ENST00000360538PSEN1chr14

73686233

-TOPORSchr9

32542623

+
intron-3CDSENST00000553447ENST00000379858PSEN1chr14

73686233

-TOPORSchr9

32542623

+

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FusionProtFeatures for PSEN1_TOPORS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PSEN1

P49768

TOPORS

Q9NS56

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}. Functions as an E3 ubiquitin-protein ligase and as an E3SUMO1-protein ligase. Probable tumor suppressor involved in cellgrowth, cell proliferation and apoptosis that regulates p53/TP53stability through ubiquitin-dependent degradation. May regulatechromatin modification through sumoylation of several chromatinmodification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation.{ECO:0000269|PubMed:15247280, ECO:0000269|PubMed:15735665,ECO:0000269|PubMed:16122737, ECO:0000269|PubMed:17803295,ECO:0000269|PubMed:18077445, ECO:0000269|PubMed:19473992,ECO:0000269|PubMed:20188669}.

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 PSEN1_TOPORS


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 PSEN1_TOPORS


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 PSEN1_TOPORS


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 PSEN1_TOPORS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSEN1C1843013Alzheimer disease, familial, type 338UNIPROT
HgenePSEN1C0002395Alzheimer's Disease12CTD_human;HPO;ORPHANET
HgenePSEN1C0011570Mental Depression5PSYGENET
HgenePSEN1C0011581Depressive disorder5HPO;PSYGENET
HgenePSEN1C0236642Pick Disease of the Brain2CTD_human
HgenePSEN1C0002726Amyloidosis1CTD_human
HgenePSEN1C0004045Asphyxia Neonatorum1CTD_human
HgenePSEN1C0007193Cardiomyopathy, Dilated1CTD_human;HPO
HgenePSEN1C0023186Learning Disorders1CTD_human
HgenePSEN1C0025261Memory Disorders1CTD_human
HgenePSEN1C0027746Nerve Degeneration1CTD_human
HgenePSEN1C0038002Splenomegaly1CTD_human
HgenePSEN1C0338451Frontotemporal dementia1CTD_human;HPO;UNIPROT
HgenePSEN1C0524851Neurodegenerative Disorders1CTD_human
HgenePSEN1C1840560Hidradenitis suppurativa, familial1CTD_human
HgenePSEN1C3160720Cardiomyopathy, Dilated, 1u1CTD_human;UNIPROT
TgeneTOPORSC0029463Osteosarcoma1CTD_human