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Fusion gene ID: 8239 |
FusionGeneSummary for CPE_GDI1 |
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Fusion gene information | Fusion gene name: CPE_GDI1 | Fusion gene ID: 8239 | Hgene | Tgene | Gene symbol | CPE | GDI1 | Gene ID | 1363 | 2664 |
Gene name | carboxypeptidase E | GDP dissociation inhibitor 1 | |
Synonyms | CPH | 1A|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4 | |
Cytomap | 4q32.3 | Xq28 | |
Type of gene | protein-coding | protein-coding | |
Description | carboxypeptidase Ecarboxypeptidase Hcobalt-stimulated chromaffin granule carboxypeptidaseenkephalin convertaseinsulin granule-associated carboxypeptidaseprohormone-processing carboxypeptidase | rab GDP dissociation inhibitor alphaGDI-1guanosine diphosphate dissociation inhibitor 1mental retardation, X-linked 48oligophrenin-2protein XAP-4rab GDI alpharab GDP-dissociation inhibitor, alphatestis secretory sperm-binding protein Li 208a | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P16870 | P31150 | |
Ensembl transtripts involved in fusion gene | ENST00000402744, | ENST00000447750, ENST00000465640, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 4 X 4 X 1=16 |
# 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(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CPE [Title/Abstract] AND GDI1 [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 |
ChiTaRS3.1 | DA080700 | CPE | chr4 | 166300353 | + | GDI1 | chrX | 153668519 | + |
* 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 |
5UTR-intron | ENST00000402744 | ENST00000447750 | CPE | chr4 | 166300353 | + | GDI1 | chrX | 153668519 | + |
5UTR-intron | ENST00000402744 | ENST00000465640 | CPE | chr4 | 166300353 | + | GDI1 | chrX | 153668519 | + |
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FusionProtFeatures for CPE_GDI1 |
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Hgene | Tgene |
CPE | GDI1 |
Removes residual C-terminal Arg or Lys remaining afterinitial endoprotease cleavage during prohormone processing.Processes proinsulin. | Regulates the GDP/GTP exchange reaction of most Rabproteins by inhibiting the dissociation of GDP from them, and thesubsequent binding of GTP to them. Promotes the dissociation ofGDP-bound Rab proteins from the membrane and inhibits theiractivation. Promotes the dissociation of RAB1A, RAB3A, RAB5A andRAB10 from membranes. {ECO:0000269|PubMed:23815289}. |
![]() * 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_GDI1 |
![]() (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_GDI1 |
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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 CPE_GDI1 |
![]() (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_GDI1 |
![]() (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 |
Tgene | GDI1 | C1136249 | Mental Retardation, X-Linked | 2 | CTD_human |
Tgene | GDI1 | C3887939 | MENTAL RETARDATION, X-LINKED 41 | 2 | UNIPROT |
Tgene | GDI1 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |