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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: 25635

FusionGeneSummary for OVOL2_CBLN4

check button Fusion gene summary
Fusion gene informationFusion gene name: OVOL2_CBLN4
Fusion gene ID: 25635
HgeneTgene
Gene symbol

OVOL2

CBLN4

Gene ID

58495

140689

Gene nameovo like zinc finger 2cerebellin 4 precursor
SynonymsCHED|CHED1|CHED2|EUROIMAGE566589|PPCD1|ZNF339CBLNL1
Cytomap

20p11.23

20q13.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor Ovo-like 2corneal endothelial dystrophy 1 (autosomal dominant)zinc finger protein 339cerebellin-4cerebellin precursor-like 1cerebellin-like glycoprotein 1
Modification date2018051920180519
UniProtAcc

Q9BRP0

Q9NTU7

Ensembl transtripts involved in fusion geneENST00000278780, ENST00000483661, 
ENST00000064571, 
Fusion gene scores* DoF score3 X 2 X 3=181 X 2 X 1=2
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/2*10)=2.32192809488736
Context

PubMed: OVOL2 [Title/Abstract] AND CBLN4 [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
TCGARVBLCATCGA-FD-A6TC-01AOVOL2chr20

18022178

-CBLN4chr20

54575903

-
TCGALDBLCATCGA-FD-A6TC-01AOVOL2chr20

18022178

-CBLN4chr20

54573810

-
* 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
Frame-shitENST00000278780ENST00000064571OVOL2chr20

18022178

-CBLN4chr20

54575903

-
5UTR-3CDSENST00000483661ENST00000064571OVOL2chr20

18022178

-CBLN4chr20

54575903

-
Frame-shitENST00000278780ENST00000064571OVOL2chr20

18022178

-CBLN4chr20

54573810

-
5UTR-3CDSENST00000483661ENST00000064571OVOL2chr20

18022178

-CBLN4chr20

54573810

-

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FusionProtFeatures for OVOL2_CBLN4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OVOL2

Q9BRP0

CBLN4

Q9NTU7

Zinc-finger transcription repressor factor(PubMed:19700410). Plays a critical role in maintaining theidentity of epithelial lineages by suppressing epithelial-tomesenchymal transition (EMT) mainly through the repression ofZEB1, an EMT inducer (By similarity). Positively regulatesneuronal differentiation (By similarity). Suppresses cell cyclingand terminal differentiation of keratinocytes by directlyrepressing MYC and NOTCH1 (PubMed:19700410). Important for thecorrect development of primordial germ cells in embryos (Bysimilarity). {ECO:0000250|UniProtKB:Q8CIV7,ECO:0000269|PubMed:19700410}. May be involved in synaptic functions in the CNS. Mayplay a role in CBLN3 export from the endoplasmic reticulum andsecretion (By similarity). {ECO:0000250}.

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 OVOL2_CBLN4


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 OVOL2_CBLN4


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
OVOL2BAG3, TRIM25CBLN4SRPK2, TOPBP1, NRXN3, GTF2F2, NKIRAS1, NDUFAF2, DHFRL1, C1QL1, ADAM11, LRIF1, GNB2, C1QL4, FBXO2, NKIRAS2


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 OVOL2_CBLN4


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 OVOL2_CBLN4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneOVOL2C0206711Pilomatrixoma1CTD_human
HgeneOVOL2C0339284Polymorphous corneal dystrophy1CTD_human;ORPHANET