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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: 32225

FusionGeneSummary for RRBP1_OVOL2

check button Fusion gene summary
Fusion gene informationFusion gene name: RRBP1_OVOL2
Fusion gene ID: 32225
HgeneTgene
Gene symbol

RRBP1

OVOL2

Gene ID

6238

58495

Gene nameribosome binding protein 1ovo like zinc finger 2
SynonymsES/130|ES130|RRp|hESCHED|CHED1|CHED2|EUROIMAGE566589|PPCD1|ZNF339
Cytomap

20p12.1

20p11.23

Type of geneprotein-codingprotein-coding
Descriptionribosome-binding protein 1180 kDa ribosome receptor homologES/130-related proteinribosome binding protein 1 homolog 180kDa (dog)ribosome receptor proteintranscription factor Ovo-like 2corneal endothelial dystrophy 1 (autosomal dominant)zinc finger protein 339
Modification date2018051920180519
UniProtAcc

Q9P2E9

Q9BRP0

Ensembl transtripts involved in fusion geneENST00000470422, ENST00000246043, 
ENST00000377813, ENST00000377807, 
ENST00000360807, ENST00000455029, 
ENST00000278780, ENST00000483661, 
Fusion gene scores* DoF score14 X 12 X 7=11762 X 2 X 2=8
# samples 172
** MAII scorelog2(17/1176*10)=-2.79028140869866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: RRBP1 [Title/Abstract] AND OVOL2 [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
TCGARVSTADTCGA-BR-8590-01ARRBP1chr20

17639241

-OVOL2chr20

18005596

-
* 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-3CDSENST00000470422ENST00000278780RRBP1chr20

17639241

-OVOL2chr20

18005596

-
intron-5UTRENST00000470422ENST00000483661RRBP1chr20

17639241

-OVOL2chr20

18005596

-
Frame-shitENST00000246043ENST00000278780RRBP1chr20

17639241

-OVOL2chr20

18005596

-
5CDS-5UTRENST00000246043ENST00000483661RRBP1chr20

17639241

-OVOL2chr20

18005596

-
Frame-shitENST00000377813ENST00000278780RRBP1chr20

17639241

-OVOL2chr20

18005596

-
5CDS-5UTRENST00000377813ENST00000483661RRBP1chr20

17639241

-OVOL2chr20

18005596

-
intron-3CDSENST00000377807ENST00000278780RRBP1chr20

17639241

-OVOL2chr20

18005596

-
intron-5UTRENST00000377807ENST00000483661RRBP1chr20

17639241

-OVOL2chr20

18005596

-
intron-3CDSENST00000360807ENST00000278780RRBP1chr20

17639241

-OVOL2chr20

18005596

-
intron-5UTRENST00000360807ENST00000483661RRBP1chr20

17639241

-OVOL2chr20

18005596

-
intron-3CDSENST00000455029ENST00000278780RRBP1chr20

17639241

-OVOL2chr20

18005596

-
intron-5UTRENST00000455029ENST00000483661RRBP1chr20

17639241

-OVOL2chr20

18005596

-

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FusionProtFeatures for RRBP1_OVOL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RRBP1

Q9P2E9

OVOL2

Q9BRP0

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}.

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 RRBP1_OVOL2


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 RRBP1_OVOL2


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
RRBP1DSTN, ZWINT, CUL3, NDUFA7, CDV3, SCP2, RPS19, ILF3, PPIF, HNRNPM, MRPL53, SRPRB, PIN4, RBMS1, KLF5, RAB8A, CHMP2A, PQBP1, RPL38, HSPA1L, HSBP1, IQCB1, SMAD9, PRKD2, MAP1LC3A, KIAA0101, TARDBP, LGR4, VCP, CUL7, NTRK1, MORC2, RBM8A, BUD31, SMNDC1, EWSR1, TMPO, FOXG1, FOXL1, PES1, EMILIN1, EEF1D, KLHL2, TSPYL6, STYX, DLST, PDHA1, TRIM25, YAP1OVOL2BAG3, TRIM25


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 RRBP1_OVOL2


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 RRBP1_OVOL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneOVOL2C0206711Pilomatrixoma1CTD_human
TgeneOVOL2C0339284Polymorphous corneal dystrophy1CTD_human;ORPHANET