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Fusion gene ID: 11634 |
FusionGeneSummary for ENPEP_CEP250 |
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Fusion gene information | Fusion gene name: ENPEP_CEP250 | Fusion gene ID: 11634 | Hgene | Tgene | Gene symbol | ENPEP | CEP250 | Gene ID | 2028 | 11190 |
Gene name | glutamyl aminopeptidase | centrosomal protein 250 | |
Synonyms | APA|CD249|gp160 | C-NAP1|CEP2|CNAP1 | |
Cytomap | 4q25 | 20q11.22 | |
Type of gene | protein-coding | protein-coding | |
Description | glutamyl aminopeptidaseAP-AEAPaminopeptidase Adifferentiation antigen gp160 | centrosome-associated protein CEP250250 kDa centrosomal proteincentrosomal Nek2-associated protein 1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q07075 | Q9BV73 | |
Ensembl transtripts involved in fusion gene | ENST00000265162, ENST00000504100, | ENST00000397527, ENST00000342580, ENST00000476146, ENST00000397524, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 6 X 4=144 |
# samples | 1 | 6 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ENPEP | GO:0003081 | regulation of systemic arterial blood pressure by renin-angiotensin | 19608358 |
Hgene | ENPEP | GO:0008283 | cell proliferation | 14998491 |
Hgene | ENPEP | GO:0016477 | cell migration | 14998491 |
Tgene | CEP250 | GO:0000278 | mitotic cell cycle | 12140259 |
Tgene | CEP250 | GO:0030997 | regulation of centriole-centriole cohesion | 9647649 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | CD700372 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000265162 | ENST00000397527 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
intron-intron | ENST00000265162 | ENST00000342580 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
intron-intron | ENST00000265162 | ENST00000476146 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
intron-intron | ENST00000265162 | ENST00000397524 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
intron-intron | ENST00000504100 | ENST00000397527 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
intron-intron | ENST00000504100 | ENST00000342580 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
intron-intron | ENST00000504100 | ENST00000476146 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
intron-intron | ENST00000504100 | ENST00000397524 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
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FusionProtFeatures for ENPEP_CEP250 |
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Hgene | Tgene |
ENPEP | CEP250 |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ENPEP_CEP250 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ENPEP_CEP250 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | ENPEP | Q07075 | DB00142 | Glutamic Acid | Glutamyl aminopeptidase | small molecule | approved|nutraceutical |
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RelatedDiseases for ENPEP_CEP250 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ENPEP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | ENPEP | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | ENPEP | C1269683 | Major Depressive Disorder | 1 | PSYGENET |