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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: 43815

FusionGeneSummary for ZNRF3_CDC42EP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNRF3_CDC42EP1
Fusion gene ID: 43815
HgeneTgene
Gene symbol

ZNRF3

CDC42EP1

Gene ID

84133

11135

Gene namezinc and ring finger 3CDC42 effector protein 1
SynonymsBK747E2.3|RNF203BORG5|CEP1|MSE55
Cytomap

22q12.1

22q13.1

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase ZNRF3CTA-292E10.6RING finger protein 203RING-type E3 ubiquitin transferase ZNRF3novel C3HC4 type Zinc finger (ring finger)zinc/RING finger protein 3cdc42 effector protein 155 kDa bone marrow stromal/endothelial cell proteinCDC42 effector protein (Rho GTPase binding) 1binder of Rho GTPases 5serum constituent proteinserum protein MSE55
Modification date2018052320180523
UniProtAcc

Q9ULT6

Q00587

Ensembl transtripts involved in fusion geneENST00000544604, ENST00000332811, 
ENST00000402174, ENST00000406323, 
ENST00000249014, 
Fusion gene scores* DoF score14 X 4 X 12=6725 X 1 X 5=25
# samples 175
** MAII scorelog2(17/672*10)=-1.98292648664106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/25*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ZNRF3 [Title/Abstract] AND CDC42EP1 [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
HgeneZNRF3

GO:0016567

protein ubiquitination

22575959

TgeneCDC42EP1

GO:0008360

regulation of cell shape

11035016

TgeneCDC42EP1

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
TCGALDGBMTCGA-19-2625-01AZNRF3chr22

29280054

+CDC42EP1chr22

37962079

+
* 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
5CDS-5UTRENST00000544604ENST00000249014ZNRF3chr22

29280054

+CDC42EP1chr22

37962079

+
5UTR-5UTRENST00000332811ENST00000249014ZNRF3chr22

29280054

+CDC42EP1chr22

37962079

+
intron-5UTRENST00000402174ENST00000249014ZNRF3chr22

29280054

+CDC42EP1chr22

37962079

+
intron-5UTRENST00000406323ENST00000249014ZNRF3chr22

29280054

+CDC42EP1chr22

37962079

+

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FusionProtFeatures for ZNRF3_CDC42EP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNRF3

Q9ULT6

CDC42EP1

Q00587

E3 ubiquitin-protein ligase that acts as a negativeregulator of the Wnt signaling pathway by mediating theubiquitination and subsequent degradation of Wnt receptor complexcomponents Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in theintestinal stem cell zone by inhibiting the Wnt signaling pathway,thereby resticting the size of the intestinal stem cell zone.{ECO:0000269|PubMed:22575959}. Probably involved in the organization of the actincytoskeleton. Induced membrane extensions in fibroblasts.{ECO:0000269|PubMed:10430899}.

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 ZNRF3_CDC42EP1


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 ZNRF3_CDC42EP1


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
ZNRF3UBE2N, FZD4, RSPO1, LGR4, LRP6, GFI1B, DVL2, HSPB1, RSPO2, RSPO3, LGR5, FZD7CDC42EP1RBPMS, CDC42, FHL3, KRTAP4-12, MAPKAP1, PLSCR1, VCP, MDFI, YWHAB, FAM96B, DEF6, RHOJ, XPO1, CDH1, CTDSPL, CDK20


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 ZNRF3_CDC42EP1


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 ZNRF3_CDC42EP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZNRF3C0030297Pancreatic Neoplasm2CTD_human
HgeneZNRF3C0206686Adrenocortical carcinoma1CTD_human