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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: 29087

FusionGeneSummary for PSEN2_NUP160

check button Fusion gene summary
Fusion gene informationFusion gene name: PSEN2_NUP160
Fusion gene ID: 29087
HgeneTgene
Gene symbol

PSEN2

NUP160

Gene ID

5664

23279

Gene namepresenilin 2nucleoporin 160
SynonymsAD3L|AD4|CMD1V|PS2|STM2-
Cytomap

1q42.13

11p11.2

Type of geneprotein-codingprotein-coding
Descriptionpresenilin-2AD3LPAD5Alzheimer disease 4E5-1PS-2STM-2nuclear pore complex protein Nup160160 kDa nucleoporinnucleoporin 160kDnucleoporin 160kDanucleoporin Nup160
Modification date2018052520180523
UniProtAcc

P49810

Q12769

Ensembl transtripts involved in fusion geneENST00000366783, ENST00000340188, 
ENST00000422240, ENST00000366782, 
ENST00000391872, ENST00000472139, 
ENST00000471728, 
ENST00000378460, 
ENST00000530326, ENST00000528071, 
ENST00000528501, ENST00000531016, 
ENST00000532747, ENST00000526870, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 1=4
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: PSEN2 [Title/Abstract] AND NUP160 [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
HgenePSEN2

GO:0006509

membrane protein ectodomain proteolysis

15274632

HgenePSEN2

GO:0016485

protein processing

15274632

HgenePSEN2

GO:0043085

positive regulation of catalytic activity

15274632

TgeneNUP160

GO:0006406

mRNA export from nucleus

11684705


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
ChiTaRS3.1AI652488PSEN2chr1

227076634

-NUP160chr11

47856706

+
* 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-intronENST00000366783ENST00000378460PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366783ENST00000530326PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366783ENST00000528071PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366783ENST00000528501PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366783ENST00000531016PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366783ENST00000532747PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366783ENST00000526870PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000340188ENST00000378460PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000340188ENST00000530326PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000340188ENST00000528071PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000340188ENST00000528501PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000340188ENST00000531016PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000340188ENST00000532747PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000340188ENST00000526870PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000422240ENST00000378460PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000422240ENST00000530326PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000422240ENST00000528071PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000422240ENST00000528501PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000422240ENST00000531016PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000422240ENST00000532747PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000422240ENST00000526870PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366782ENST00000378460PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366782ENST00000530326PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366782ENST00000528071PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366782ENST00000528501PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366782ENST00000531016PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366782ENST00000532747PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000366782ENST00000526870PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000391872ENST00000378460PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000391872ENST00000530326PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000391872ENST00000528071PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000391872ENST00000528501PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000391872ENST00000531016PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000391872ENST00000532747PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000391872ENST00000526870PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000472139ENST00000378460PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000472139ENST00000530326PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000472139ENST00000528071PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000472139ENST00000528501PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000472139ENST00000531016PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000472139ENST00000532747PSEN2chr1

227076634

-NUP160chr11

47856706

+
5CDS-intronENST00000472139ENST00000526870PSEN2chr1

227076634

-NUP160chr11

47856706

+
intron-intronENST00000471728ENST00000378460PSEN2chr1

227076634

-NUP160chr11

47856706

+
intron-intronENST00000471728ENST00000530326PSEN2chr1

227076634

-NUP160chr11

47856706

+
intron-intronENST00000471728ENST00000528071PSEN2chr1

227076634

-NUP160chr11

47856706

+
intron-intronENST00000471728ENST00000528501PSEN2chr1

227076634

-NUP160chr11

47856706

+
intron-intronENST00000471728ENST00000531016PSEN2chr1

227076634

-NUP160chr11

47856706

+
intron-intronENST00000471728ENST00000532747PSEN2chr1

227076634

-NUP160chr11

47856706

+
intron-intronENST00000471728ENST00000526870PSEN2chr1

227076634

-NUP160chr11

47856706

+

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FusionProtFeatures for PSEN2_NUP160


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PSEN2

P49810

NUP160

Q12769

Probable catalytic subunit of the gamma-secretasecomplex, an endoprotease complex that catalyzes the intramembranecleavage of integral membrane proteins such as Notch receptors andAPP (amyloid-beta precursor protein). Requires the other membersof the gamma-secretase complex to have a protease activity. Mayplay a role in intracellular signaling and gene expression or inlinking chromatin to the nuclear membrane. May function in thecytoplasmic partitioning of proteins.{ECO:0000269|PubMed:10497236, ECO:0000269|PubMed:10652302}. Involved in poly(A)+ RNA transport.{ECO:0000269|PubMed:11684705}.

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 PSEN2_NUP160


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 PSEN2_NUP160


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 PSEN2_NUP160


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 PSEN2_NUP160


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSEN2C0002395Alzheimer's Disease3CTD_human;HPO;ORPHANET
HgenePSEN2C0036341Schizophrenia3PSYGENET
HgenePSEN2C1847200ALZHEIMER DISEASE 43CTD_human;UNIPROT
HgenePSEN2C0005586Bipolar Disorder2PSYGENET
HgenePSEN2C0004045Asphyxia Neonatorum1CTD_human
HgenePSEN2C0007193Cardiomyopathy, Dilated1CTD_human;HPO