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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: 6367

FusionGeneSummary for CDC42EP3_CDC42EP3

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42EP3_CDC42EP3
Fusion gene ID: 6367
HgeneTgene
Gene symbol

CDC42EP3

CDC42EP3

Gene ID

10602

10602

Gene nameCDC42 effector protein 3CDC42 effector protein 3
SynonymsBORG2|CEP3|UB1BORG2|CEP3|UB1
Cytomap

2p22.2

2p22.2

Type of geneprotein-codingprotein-coding
Descriptioncdc42 effector protein 3CDC42 effector protein (Rho GTPase binding) 3CRIB-containing BORG2 proteinMSE55-related Cdc42-binding proteinMSE55-related proteinbinder of Rho GTPases 2cdc42 effector protein 3CDC42 effector protein (Rho GTPase binding) 3CRIB-containing BORG2 proteinMSE55-related Cdc42-binding proteinMSE55-related proteinbinder of Rho GTPases 2
Modification date2018052320180523
UniProtAcc

Q9UKI2

Q9UKI2

Ensembl transtripts involved in fusion geneENST00000295324, ENST00000295324, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 3 X 2=18
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: CDC42EP3 [Title/Abstract] AND CDC42EP3 [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

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
ChiTaRS3.1BU177566CDC42EP3chr2

37872398

+CDC42EP3chr2

37872765

-
* 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
intron-3UTRENST00000295324ENST00000295324CDC42EP3chr2

37872398

+CDC42EP3chr2

37872765

-

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FusionProtFeatures for CDC42EP3_CDC42EP3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDC42EP3

Q9UKI2

CDC42EP3

Q9UKI2

Probably involved in the organization of the actincytoskeleton. May act downstream of CDC42 to induce actin filamentassembly leading to cell shape changes. Induces pseudopodiaformation in fibroblasts. {ECO:0000269|PubMed:10490598,ECO:0000269|PubMed:11035016}. Probably involved in the organization of the actincytoskeleton. May act downstream of CDC42 to induce actin filamentassembly leading to cell shape changes. Induces pseudopodiaformation in fibroblasts. {ECO:0000269|PubMed:10490598,ECO:0000269|PubMed:11035016}.

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 CDC42EP3_CDC42EP3


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 CDC42EP3_CDC42EP3


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 CDC42EP3_CDC42EP3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CDC42EP3_CDC42EP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDC42EP3C0036341Schizophrenia1PSYGENET
TgeneCDC42EP3C0036341Schizophrenia1PSYGENET