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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: 42172

FusionGeneSummary for XPNPEP3_USO1

check button Fusion gene summary
Fusion gene informationFusion gene name: XPNPEP3_USO1
Fusion gene ID: 42172
HgeneTgene
Gene symbol

XPNPEP3

USO1

Gene ID

63929

8615

Gene nameX-prolyl aminopeptidase 3USO1 vesicle transport factor
SynonymsAPP3|ICP55|NPHPL1P115|TAP|VDP
Cytomap

22q13.2

4q21.1

Type of geneprotein-codingprotein-coding
Descriptionxaa-Pro aminopeptidase 3Intermediate Cleaving Peptidase 55X-Pro aminopeptidase 3X-prolyl aminopeptidase 3, mitochondrialprobable Xaa-Pro aminopeptidase 3general vesicular transport factor p115USO1 vesicle docking protein homologtranscytosis associated proteinvesicle docking protein p115
Modification date2018052720180523
UniProtAcc

Q9NQH7

O60763

Ensembl transtripts involved in fusion geneENST00000541156, ENST00000357137, 
ENST00000544094, ENST00000414396, 
ENST00000482652, 
ENST00000538159, 
ENST00000514213, 
Fusion gene scores* DoF score5 X 4 X 3=604 X 4 X 3=48
# samples 55
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: XPNPEP3 [Title/Abstract] AND USO1 [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
HgeneXPNPEP3

GO:0006508

proteolysis

28476889


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
ChiTaRS3.1AI635379XPNPEP3chr22

41258321

-USO1chr4

76692047

-
* 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-3CDSENST00000541156ENST00000538159XPNPEP3chr22

41258321

-USO1chr4

76692047

-
intron-3CDSENST00000541156ENST00000514213XPNPEP3chr22

41258321

-USO1chr4

76692047

-
intron-3CDSENST00000357137ENST00000538159XPNPEP3chr22

41258321

-USO1chr4

76692047

-
intron-3CDSENST00000357137ENST00000514213XPNPEP3chr22

41258321

-USO1chr4

76692047

-
5UTR-3CDSENST00000544094ENST00000538159XPNPEP3chr22

41258321

-USO1chr4

76692047

-
5UTR-3CDSENST00000544094ENST00000514213XPNPEP3chr22

41258321

-USO1chr4

76692047

-
intron-3CDSENST00000414396ENST00000538159XPNPEP3chr22

41258321

-USO1chr4

76692047

-
intron-3CDSENST00000414396ENST00000514213XPNPEP3chr22

41258321

-USO1chr4

76692047

-
3UTR-3CDSENST00000482652ENST00000538159XPNPEP3chr22

41258321

-USO1chr4

76692047

-
3UTR-3CDSENST00000482652ENST00000514213XPNPEP3chr22

41258321

-USO1chr4

76692047

-

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FusionProtFeatures for XPNPEP3_USO1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
XPNPEP3

Q9NQH7

USO1

O60763

Catalyzes the removal of a penultimate prolyl residuefrom the N-termini of peptides, such as Leu-Pro-Ala(PubMed:25609706, PubMed:28476889). Also shows low activitytowards peptides with Ala or Ser at the P1 position(PubMed:28476889). {ECO:0000269|PubMed:25609706,ECO:0000269|PubMed:28476889}. Isoform 1: Promotes TNFRSF1B-mediated phosphorylation ofMAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapterprotein for TNFRSF1B; the effect is independent of XPNPEP3peptidase activity. May inhibit apoptotic cell death induced viaTNF-TNFRSF1B signaling. {ECO:0000269|PubMed:25609706}. General vesicular transport factor required forintercisternal transport in the Golgi stack; it is required fortranscytotic fusion and/or subsequent binding of the vesicles tothe target membrane. May well act as a vesicular anchor byinteracting with the target membrane and holding the vesicular andtarget membranes in proximity. {ECO:0000250|UniProtKB:P41542}.

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 XPNPEP3_USO1


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 XPNPEP3_USO1


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 XPNPEP3_USO1


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 XPNPEP3_USO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneXPNPEP3C3150419NEPHRONOPHTHISIS-LIKE NEPHROPATHY 11CTD_human;UNIPROT
TgeneUSO1C0033578Prostatic Neoplasms1CTD_human
TgeneUSO1C0037274Dermatologic disorders1CTD_human
TgeneUSO1C0311375Arsenic Poisoning1CTD_human