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Fusion gene ID: 8242 |
FusionGeneSummary for CPE_SMIM14 |
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Fusion gene information | Fusion gene name: CPE_SMIM14 | Fusion gene ID: 8242 | Hgene | Tgene | Gene symbol | CPE | SMIM14 | Gene ID | 1363 | 201895 |
Gene name | carboxypeptidase E | small integral membrane protein 14 | |
Synonyms | CPH | C4orf34 | |
Cytomap | 4q32.3 | 4p14 | |
Type of gene | protein-coding | protein-coding | |
Description | carboxypeptidase Ecarboxypeptidase Hcobalt-stimulated chromaffin granule carboxypeptidaseenkephalin convertaseinsulin granule-associated carboxypeptidaseprohormone-processing carboxypeptidase | small integral membrane protein 14 | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P16870 | Q96QK8 | |
Ensembl transtripts involved in fusion gene | ENST00000402744, | ENST00000295958, ENST00000511809, ENST00000510628, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 4 X 2 X 4=32 |
# samples | 5 | 4 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CPE [Title/Abstract] AND SMIM14 [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 | CPE | GO:0016055 | Wnt signaling pathway | 22824791 |
Hgene | CPE | GO:0072657 | protein localization to membrane | 19166515 |
![]() (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 |
TCGA | LD | BRCA | TCGA-E2-A1B0-01A | CPE | chr4 | 166300680 | + | SMIM14 | chr4 | 39574083 | - |
* 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 |
Frame-shift | ENST00000402744 | ENST00000295958 | CPE | chr4 | 166300680 | + | SMIM14 | chr4 | 39574083 | - |
Frame-shift | ENST00000402744 | ENST00000511809 | CPE | chr4 | 166300680 | + | SMIM14 | chr4 | 39574083 | - |
5CDS-5UTR | ENST00000402744 | ENST00000510628 | CPE | chr4 | 166300680 | + | SMIM14 | chr4 | 39574083 | - |
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FusionProtFeatures for CPE_SMIM14 |
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Hgene | Tgene |
CPE | SMIM14 |
Removes residual C-terminal Arg or Lys remaining afterinitial endoprotease cleavage during prohormone processing.Processes proinsulin. |
![]() * 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 CPE_SMIM14 |
![]() (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 CPE_SMIM14 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CPE | ROBO2, CHD3, GTF3C1, POLA2, POLDIP2, RPA1, UTP14A, MED31, LRIF1, PRKAA1, NUFIP1, SERPINB11, SIAE, RNASE13, PSG8, SLAMF1, SCGB1D1, PSG1 | SMIM14 | ELAVL1, LSM4, FATE1 |
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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 CPE_SMIM14 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | CPE | P16870 | DB00071 | Insulin Pork | Carboxypeptidase E | biotech | approved |
Hgene | CPE | P16870 | DB00030 | Insulin Human | Carboxypeptidase E | biotech | approved|investigational |
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RelatedDiseases for CPE_SMIM14 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CPE | C0028754 | Obesity | 2 | CTD_human |
Hgene | CPE | C0014130 | Endocrine System Diseases | 1 | CTD_human |
Hgene | CPE | C0021655 | Insulin Resistance | 1 | CTD_human |