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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: 6379

FusionGeneSummary for CDC42SE2_CDC42SE2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42SE2_CDC42SE2
Fusion gene ID: 6379
HgeneTgene
Gene symbol

CDC42SE2

CDC42SE2

Gene ID

56990

56990

Gene nameCDC42 small effector 2CDC42 small effector 2
SynonymsSPEC2SPEC2
Cytomap

5q31.1

5q31.1

Type of geneprotein-codingprotein-coding
DescriptionCDC42 small effector protein 2non-kinase Cdc42 effector protein SPEC2small effector of CDC42 protein 2CDC42 small effector protein 2non-kinase Cdc42 effector protein SPEC2small effector of CDC42 protein 2
Modification date2018052320180523
UniProtAcc

Q9NRR3

Q9NRR3

Ensembl transtripts involved in fusion geneENST00000395246, ENST00000504701, 
ENST00000503291, ENST00000360515, 
ENST00000505065, 
ENST00000395246, 
ENST00000504701, ENST00000503291, 
ENST00000360515, ENST00000505065, 
Fusion gene scores* DoF score2 X 4 X 2=164 X 5 X 2=40
# samples 68
** MAII scorelog2(6/16*10)=1.90689059560852
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/40*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CDC42SE2 [Title/Abstract] AND CDC42SE2 [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
HgeneCDC42SE2

GO:0009966

regulation of signal transduction

10816584

TgeneCDC42SE2

GO:0009966

regulation of signal transduction

10816584


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
ChiTaRS3.1BU675572CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
ChiTaRS3.1BE143612CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
ChiTaRS3.1BU680197CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
ChiTaRS3.1CV416998CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
ChiTaRS3.1BE143688CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
* 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
3UTR-3UTRENST00000395246ENST00000395246CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-intronENST00000395246ENST00000504701CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-intronENST00000395246ENST00000503291CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-3UTRENST00000395246ENST00000360515CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-3UTRENST00000395246ENST00000505065CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-3UTRENST00000504701ENST00000395246CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-intronENST00000504701ENST00000504701CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-intronENST00000504701ENST00000503291CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-3UTRENST00000504701ENST00000360515CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-3UTRENST00000504701ENST00000505065CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-3UTRENST00000503291ENST00000395246CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-intronENST00000503291ENST00000504701CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-intronENST00000503291ENST00000503291CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-3UTRENST00000503291ENST00000360515CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-3UTRENST00000503291ENST00000505065CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-3UTRENST00000360515ENST00000395246CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-intronENST00000360515ENST00000504701CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-intronENST00000360515ENST00000503291CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-3UTRENST00000360515ENST00000360515CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-3UTRENST00000360515ENST00000505065CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-3UTRENST00000505065ENST00000395246CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-intronENST00000505065ENST00000504701CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-intronENST00000505065ENST00000503291CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-3UTRENST00000505065ENST00000360515CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
3UTR-3UTRENST00000505065ENST00000505065CDC42SE2chr5

130729944

-CDC42SE2chr5

130729808

+
intron-intronENST00000395246ENST00000395246CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000395246ENST00000504701CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000395246ENST00000503291CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000395246ENST00000360515CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000395246ENST00000505065CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000504701ENST00000395246CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000504701ENST00000504701CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000504701ENST00000503291CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000504701ENST00000360515CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000504701ENST00000505065CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000503291ENST00000395246CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000503291ENST00000504701CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000503291ENST00000503291CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000503291ENST00000360515CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000503291ENST00000505065CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000360515ENST00000395246CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000360515ENST00000504701CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000360515ENST00000503291CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000360515ENST00000360515CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000360515ENST00000505065CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000505065ENST00000395246CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000505065ENST00000504701CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000505065ENST00000503291CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000505065ENST00000360515CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000505065ENST00000505065CDC42SE2chr5

130693401

+CDC42SE2chr5

130692760

+
intron-intronENST00000395246ENST00000395246CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000395246ENST00000504701CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000395246ENST00000503291CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000395246ENST00000360515CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000395246ENST00000505065CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000504701ENST00000395246CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000504701ENST00000504701CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000504701ENST00000503291CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000504701ENST00000360515CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000504701ENST00000505065CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000503291ENST00000395246CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000503291ENST00000504701CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000503291ENST00000503291CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000503291ENST00000360515CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000503291ENST00000505065CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000360515ENST00000395246CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000360515ENST00000504701CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000360515ENST00000503291CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000360515ENST00000360515CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000360515ENST00000505065CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000505065ENST00000395246CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000505065ENST00000504701CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000505065ENST00000503291CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000505065ENST00000360515CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+
intron-intronENST00000505065ENST00000505065CDC42SE2chr5

130673764

-CDC42SE2chr5

130675586

+

Top

FusionProtFeatures for CDC42SE2_CDC42SE2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDC42SE2

Q9NRR3

CDC42SE2

Q9NRR3

Probably involved in the organization of the actincytoskeleton by acting downstream of CDC42, inducing actinfilament assembly. Alters CDC42-induced cell shape changes. Inactivated T-cells, may play a role in CDC42-mediated F-actinaccumulation at the immunological synapse. May play a role inearly contractile events in phagocytosis in macrophages.{ECO:0000269|PubMed:10816584, ECO:0000269|PubMed:15840583}. Probably involved in the organization of the actincytoskeleton by acting downstream of CDC42, inducing actinfilament assembly. Alters CDC42-induced cell shape changes. Inactivated T-cells, may play a role in CDC42-mediated F-actinaccumulation at the immunological synapse. May play a role inearly contractile events in phagocytosis in macrophages.{ECO:0000269|PubMed:10816584, ECO:0000269|PubMed:15840583}.

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


Top

FusionGeneSequence for CDC42SE2_CDC42SE2


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).

Top

FusionGenePPI for CDC42SE2_CDC42SE2


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


Top

RelatedDrugs for CDC42SE2_CDC42SE2


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

Top

RelatedDiseases for CDC42SE2_CDC42SE2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDC42SE2C0036341Schizophrenia2PSYGENET
TgeneCDC42SE2C0036341Schizophrenia2PSYGENET