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Fusion gene ID: 8238 |
FusionGeneSummary for CPE_ARHGEF4 |
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Fusion gene information | Fusion gene name: CPE_ARHGEF4 | Fusion gene ID: 8238 | Hgene | Tgene | Gene symbol | CPE | ARHGEF4 | Gene ID | 1363 | 50649 |
Gene name | carboxypeptidase E | Rho guanine nucleotide exchange factor 4 | |
Synonyms | CPH | ASEF|ASEF1|GEF4|STM6 | |
Cytomap | 4q32.3 | 2q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | carboxypeptidase Ecarboxypeptidase Hcobalt-stimulated chromaffin granule carboxypeptidaseenkephalin convertaseinsulin granule-associated carboxypeptidaseprohormone-processing carboxypeptidase | rho guanine nucleotide exchange factor 4APC-stimulated guanine nucleotide exchange factor 1Rho guanine nucleotide exchange factor (GEF) 4 | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P16870 | Q9NR80 | |
Ensembl transtripts involved in fusion gene | ENST00000402744, | ENST00000409359, ENST00000326016, ENST00000392953, ENST00000428230, ENST00000525839, ENST00000409303, ENST00000355771, ENST00000439368, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 3 X 2 X 3=18 |
# samples | 5 | 3 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CPE [Title/Abstract] AND ARHGEF4 [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 | RV | LGG | TCGA-FG-7643-01A | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
* 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 | ENST00000409359 | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
Frame-shift | ENST00000402744 | ENST00000326016 | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
Frame-shift | ENST00000402744 | ENST00000392953 | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
5CDS-intron | ENST00000402744 | ENST00000428230 | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
5CDS-intron | ENST00000402744 | ENST00000525839 | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
5CDS-intron | ENST00000402744 | ENST00000409303 | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
5CDS-intron | ENST00000402744 | ENST00000355771 | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
5CDS-intron | ENST00000402744 | ENST00000439368 | CPE | chr4 | 166419472 | + | ARHGEF4 | chr2 | 131674224 | + |
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FusionProtFeatures for CPE_ARHGEF4 |
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Hgene | Tgene |
CPE | ARHGEF4 |
Removes residual C-terminal Arg or Lys remaining afterinitial endoprotease cleavage during prohormone processing.Processes proinsulin. | Acts as guanine nucleotide exchange factor (GEF) forRHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEFactivity. The APC-ARHGEF4 complex seems to be involved in cellmigration as well as in E-cadherin-mediated cell-cell adhesion.Required for MMP9 up-regulation via the JNK signaling pathway incolorectal tumor cells. Involved in tumor angiogenesis and mayplay a role in intestinal adenoma formation and tumor progression.{ECO:0000269|PubMed:10947987, ECO:0000269|PubMed:12598901,ECO:0000269|PubMed:17145773, ECO:0000269|PubMed:17599059,ECO:0000269|PubMed:19893577}. |
![]() * 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_ARHGEF4 |
![]() (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_ARHGEF4 |
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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 | ARHGEF4 | APC, RHOA, RAC1, HLA-B, KHDRBS1, MOV10, NXF1, TRIM25 |
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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_ARHGEF4 |
![]() (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_ARHGEF4 |
![]() (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 |