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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: 6370

FusionGeneSummary for CDC42EP4_AMZ2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42EP4_AMZ2
Fusion gene ID: 6370
HgeneTgene
Gene symbol

CDC42EP4

AMZ2

Gene ID

23580

51321

Gene nameCDC42 effector protein 4archaelysin family metallopeptidase 2
SynonymsBORG4|CEP4|KAIA1777-
Cytomap

17q25.1

17q24.2

Type of geneprotein-codingprotein-coding
Descriptioncdc42 effector protein 4CDC42 effector protein (Rho GTPase binding) 4binder of Rho GTPases 4archaemetzincin-2archaemetzincins-2archeobacterial metalloproteinase-like protein 2
Modification date2018052320180519
UniProtAcc

Q9H3Q1

Q86W34

Ensembl transtripts involved in fusion geneENST00000335793, ENST00000439510, 
ENST00000581014, ENST00000582303, 
ENST00000359904, ENST00000580753, 
ENST00000392720, ENST00000359783, 
ENST00000577866, ENST00000585050, 
ENST00000577985, ENST00000577273, 
Fusion gene scores* DoF score4 X 1 X 5=203 X 2 X 3=18
# samples 73
** MAII scorelog2(7/20*10)=1.8073549220576
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: CDC42EP4 [Title/Abstract] AND AMZ2 [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
HgeneCDC42EP4

GO:0008360

regulation of cell shape

11035016

HgeneCDC42EP4

GO:0031274

positive regulation of pseudopodium assembly

11035016


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
TCGARVSTADTCGA-D7-6820-01ACDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
* 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-5UTRENST00000335793ENST00000359904CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000335793ENST00000580753CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000335793ENST00000392720CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000335793ENST00000359783CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000335793ENST00000577866CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-3UTRENST00000335793ENST00000585050CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-intronENST00000335793ENST00000577985CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-intronENST00000335793ENST00000577273CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000439510ENST00000359904CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000439510ENST00000580753CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000439510ENST00000392720CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000439510ENST00000359783CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000439510ENST00000577866CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-3UTRENST00000439510ENST00000585050CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-intronENST00000439510ENST00000577985CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-intronENST00000439510ENST00000577273CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000581014ENST00000359904CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000581014ENST00000580753CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000581014ENST00000392720CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000581014ENST00000359783CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-5UTRENST00000581014ENST00000577866CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-3UTRENST00000581014ENST00000585050CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-intronENST00000581014ENST00000577985CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
5UTR-intronENST00000581014ENST00000577273CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
intron-5UTRENST00000582303ENST00000359904CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
intron-5UTRENST00000582303ENST00000580753CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
intron-5UTRENST00000582303ENST00000392720CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
intron-5UTRENST00000582303ENST00000359783CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
intron-5UTRENST00000582303ENST00000577866CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
intron-3UTRENST00000582303ENST00000585050CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
intron-intronENST00000582303ENST00000577985CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+
intron-intronENST00000582303ENST00000577273CDC42EP4chr17

71308032

-AMZ2chr17

66244781

+

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FusionProtFeatures for CDC42EP4_AMZ2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDC42EP4

Q9H3Q1

AMZ2

Q86W34

Probably involved in the organization of the actincytoskeleton. May act downstream of CDC42 to induce actin filamentassembly leading to cell shape changes. Induces pseudopodiaformation, when overexpressed in fibroblasts. Zinc metalloprotease. Exhibits activity againstangiotensin-3 in vitro. Does not hydrolyze either neurogranin orangiotensin-2. {ECO:0000269|PubMed:15972818}.

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 CDC42EP4_AMZ2


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 CDC42EP4_AMZ2


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
CDC42EP4WDR6, POLR3H, CDC42, ELAVL1, LNX1, APP, VCP, SRPK2, FAM9B, RTN4IP1, SEPT4, SEPT2, SEPT7, SEPT5, SEPT6, SEPT8, SEPT11, SEPT9, SEPT3, KLHL15, SEPT10, YBEY, FHL2, CDH1, SEPT14AMZ2WISP2, DKK1, LRRC46, TMEM255B, CTSO, CYP2C18, NCOA5, NDE1, ZNFX1, NANOG, CCL4, CCL14, INSL5, PAK7, DENR, IL17RC, KCNV2


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 CDC42EP4_AMZ2


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 CDC42EP4_AMZ2


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