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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: 8239

FusionGeneSummary for CPE_GDI1

check button Fusion gene summary
Fusion gene informationFusion gene name: CPE_GDI1
Fusion gene ID: 8239
HgeneTgene
Gene symbol

CPE

GDI1

Gene ID

1363

2664

Gene namecarboxypeptidase EGDP dissociation inhibitor 1
SynonymsCPH1A|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4
Cytomap

4q32.3

Xq28

Type of geneprotein-codingprotein-coding
Descriptioncarboxypeptidase Ecarboxypeptidase Hcobalt-stimulated chromaffin granule carboxypeptidaseenkephalin convertaseinsulin granule-associated carboxypeptidaseprohormone-processing carboxypeptidaserab 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 date2018052720180519
UniProtAcc

P16870

P31150

Ensembl transtripts involved in fusion geneENST00000402744, ENST00000447750, 
ENST00000465640, 
Fusion gene scores* DoF score5 X 4 X 4=804 X 4 X 1=16
# samples 54
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCPE

GO:0016055

Wnt signaling pathway

22824791

HgeneCPE

GO:0072657

protein localization to membrane

19166515


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
ChiTaRS3.1DA080700CPEchr4

166300353

+GDI1chrX

153668519

+
* 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
5UTR-intronENST00000402744ENST00000447750CPEchr4

166300353

+GDI1chrX

153668519

+
5UTR-intronENST00000402744ENST00000465640CPEchr4

166300353

+GDI1chrX

153668519

+

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FusionProtFeatures for CPE_GDI1


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

P16870

GDI1

P31150

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}.

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 CPE_GDI1


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 CPE_GDI1


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 CPE_GDI1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCPEP16870DB00071Insulin PorkCarboxypeptidase Ebiotechapproved
HgeneCPEP16870DB00030Insulin HumanCarboxypeptidase Ebiotechapproved|investigational

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RelatedDiseases for CPE_GDI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCPEC0028754Obesity2CTD_human
HgeneCPEC0014130Endocrine System Diseases1CTD_human
HgeneCPEC0021655Insulin Resistance1CTD_human
TgeneGDI1C1136249Mental Retardation, X-Linked2CTD_human
TgeneGDI1C3887939MENTAL RETARDATION, X-LINKED 412UNIPROT
TgeneGDI1C1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human