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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: 6368

FusionGeneSummary for CDC42EP3_FSCN1

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42EP3_FSCN1
Fusion gene ID: 6368
HgeneTgene
Gene symbol

CDC42EP3

FSCN1

Gene ID

10602

6624

Gene nameCDC42 effector protein 3fascin actin-bundling protein 1
SynonymsBORG2|CEP3|UB1FAN1|HSN|SNL|p55
Cytomap

2p22.2

7p22.1

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 2fascin55 kDa actin-bundling proteinfascin homolog 1, actin-bundling proteinsinged-like (fascin homolog, sea urchin)
Modification date2018052320180523
UniProtAcc

Q9UKI2

Q16658

Ensembl transtripts involved in fusion geneENST00000295324, ENST00000340250, 
ENST00000382361, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: CDC42EP3 [Title/Abstract] AND FSCN1 [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
TgeneFSCN1

GO:0007043

cell-cell junction assembly

9571235

TgeneFSCN1

GO:0010592

positive regulation of lamellipodium assembly

9571235

TgeneFSCN1

GO:0030035

microspike assembly

9571235

TgeneFSCN1

GO:0030036

actin cytoskeleton organization

9571235

TgeneFSCN1

GO:0032534

regulation of microvillus assembly

9571235

TgeneFSCN1

GO:0032956

regulation of actin cytoskeleton organization

20137952

TgeneFSCN1

GO:0035089

establishment of apical/basal cell polarity

9571235

TgeneFSCN1

GO:0048870

cell motility

9571235

TgeneFSCN1

GO:0051017

actin filament bundle assembly

20393565

TgeneFSCN1

GO:0051491

positive regulation of filopodium assembly

9571235

TgeneFSCN1

GO:0071803

positive regulation of podosome assembly

20137952

TgeneFSCN1

GO:0090091

positive regulation of extracellular matrix disassembly

20137952


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
ChiTaRS3.1AU280154CDC42EP3chr2

37873844

-FSCN1chr7

5632832

+
* 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-3CDSENST00000295324ENST00000340250CDC42EP3chr2

37873844

-FSCN1chr7

5632832

+
intron-3CDSENST00000295324ENST00000382361CDC42EP3chr2

37873844

-FSCN1chr7

5632832

+

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FusionProtFeatures for CDC42EP3_FSCN1


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

Q9UKI2

FSCN1

Q16658

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}. Organizes filamentous actin into bundles with a minimumof 4.1:1 actin/fascin ratio. Plays a role in the organization ofactin filament bundles and the formation of microspikes, membraneruffles, and stress fibers. Important for the formation of adiverse set of cell protrusions, such as filopodia, and for cellmotility and migration. {ECO:0000269|PubMed:20137952,ECO:0000269|PubMed:20393565, ECO:0000269|PubMed:9362073,ECO:0000269|PubMed:9571235}.

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_FSCN1


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_FSCN1


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_FSCN1


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_FSCN1


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