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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: 11634

FusionGeneSummary for ENPEP_CEP250

check button Fusion gene summary
Fusion gene informationFusion gene name: ENPEP_CEP250
Fusion gene ID: 11634
HgeneTgene
Gene symbol

ENPEP

CEP250

Gene ID

2028

11190

Gene nameglutamyl aminopeptidasecentrosomal protein 250
SynonymsAPA|CD249|gp160C-NAP1|CEP2|CNAP1
Cytomap

4q25

20q11.22

Type of geneprotein-codingprotein-coding
Descriptionglutamyl aminopeptidaseAP-AEAPaminopeptidase Adifferentiation antigen gp160centrosome-associated protein CEP250250 kDa centrosomal proteincentrosomal Nek2-associated protein 1
Modification date2018052320180519
UniProtAcc

Q07075

Q9BV73

Ensembl transtripts involved in fusion geneENST00000265162, ENST00000504100, 
ENST00000397527, ENST00000342580, 
ENST00000476146, ENST00000397524, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 6 X 4=144
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENPEP [Title/Abstract] AND CEP250 [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
HgeneENPEP

GO:0003081

regulation of systemic arterial blood pressure by renin-angiotensin

19608358

HgeneENPEP

GO:0008283

cell proliferation

14998491

HgeneENPEP

GO:0016477

cell migration

14998491

TgeneCEP250

GO:0000278

mitotic cell cycle

12140259

TgeneCEP250

GO:0030997

regulation of centriole-centriole cohesion

9647649


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
ChiTaRS3.1CD700372ENPEPchr4

111443627

+CEP250chr20

34075507

-
* 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-intronENST00000265162ENST00000397527ENPEPchr4

111443627

+CEP250chr20

34075507

-
intron-intronENST00000265162ENST00000342580ENPEPchr4

111443627

+CEP250chr20

34075507

-
intron-intronENST00000265162ENST00000476146ENPEPchr4

111443627

+CEP250chr20

34075507

-
intron-intronENST00000265162ENST00000397524ENPEPchr4

111443627

+CEP250chr20

34075507

-
intron-intronENST00000504100ENST00000397527ENPEPchr4

111443627

+CEP250chr20

34075507

-
intron-intronENST00000504100ENST00000342580ENPEPchr4

111443627

+CEP250chr20

34075507

-
intron-intronENST00000504100ENST00000476146ENPEPchr4

111443627

+CEP250chr20

34075507

-
intron-intronENST00000504100ENST00000397524ENPEPchr4

111443627

+CEP250chr20

34075507

-

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FusionProtFeatures for ENPEP_CEP250


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

Q07075

CEP250

Q9BV73

Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues frompeptides such as angiotensin II. {ECO:0000305|PubMed:23888046}. Probably plays an important role in centrosome cohesionduring interphase.

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 ENPEP_CEP250


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 ENPEP_CEP250


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 ENPEP_CEP250


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneENPEPQ07075DB00142Glutamic AcidGlutamyl aminopeptidasesmall moleculeapproved|nutraceutical

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RelatedDiseases for ENPEP_CEP250


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENPEPC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneENPEPC0041696Unipolar Depression1PSYGENET
HgeneENPEPC1269683Major Depressive Disorder1PSYGENET