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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: 10732

FusionGeneSummary for DVL3_RFX6

check button Fusion gene summary
Fusion gene informationFusion gene name: DVL3_RFX6
Fusion gene ID: 10732
HgeneTgene
Gene symbol

DVL3

RFX6

Gene ID

1857

222546

Gene namedishevelled segment polarity protein 3regulatory factor X6
SynonymsDRS3MTCHRS|MTFS|RFXDC1|dJ955L16.1
Cytomap

3q27.1

6q22.1

Type of geneprotein-codingprotein-coding
Descriptionsegment polarity protein dishevelled homolog DVL-3dishevelled 3 (homologous to Drosophila dsh)dishevelled, dsh homolog 3DNA-binding protein RFX6regulatory factor X domain-containing protein 1regulatory factor X, 6
Modification date2018052320180523
UniProtAcc

Q92997

Q8HWS3

Ensembl transtripts involved in fusion geneENST00000313143, ENST00000431765, 
ENST00000462665, 
ENST00000332958, 
ENST00000471966, 
Fusion gene scores* DoF score5 X 5 X 4=1001 X 1 X 1=1
# samples 51
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: DVL3 [Title/Abstract] AND RFX6 [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
HgeneDVL3

GO:0016055

Wnt signaling pathway

10644691

HgeneDVL3

GO:0043547

positive regulation of GTPase activity

23109420

HgeneDVL3

GO:0045893

positive regulation of transcription, DNA-templated

10644691|12805222|17593335

HgeneDVL3

GO:0060070

canonical Wnt signaling pathway

17593335

HgeneDVL3

GO:0060071

Wnt signaling pathway, planar cell polarity pathway

12805222

HgeneDVL3

GO:1903827

regulation of cellular protein localization

19625296

TgeneRFX6

GO:0045893

positive regulation of transcription, DNA-templated

20148032

TgeneRFX6

GO:0045944

positive regulation of transcription by RNA polymerase II

20148032


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
TCGARVESCATCGA-R6-A8W5-01BDVL3chr3

183873584

+RFX6chr6

117252494

+
* 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-shiftENST00000313143ENST00000332958DVL3chr3

183873584

+RFX6chr6

117252494

+
5CDS-intronENST00000313143ENST00000471966DVL3chr3

183873584

+RFX6chr6

117252494

+
Frame-shiftENST00000431765ENST00000332958DVL3chr3

183873584

+RFX6chr6

117252494

+
5CDS-intronENST00000431765ENST00000471966DVL3chr3

183873584

+RFX6chr6

117252494

+
3UTR-3CDSENST00000462665ENST00000332958DVL3chr3

183873584

+RFX6chr6

117252494

+
3UTR-intronENST00000462665ENST00000471966DVL3chr3

183873584

+RFX6chr6

117252494

+

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FusionProtFeatures for DVL3_RFX6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DVL3

Q92997

RFX6

Q8HWS3

Involved in the signal transduction pathway mediated bymultiple Wnt genes. {ECO:0000250|UniProtKB:Q61062}. Transcription factor required to direct islet celldifferentiation during endocrine pancreas development.Specifically required for the differentiation of 4 of the 5 isletcell types and for the production of insulin (PubMed:20148032,PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 andregulates the transcription factors involved in beta-cellmaturation and function, thereby restricting the expression of thebeta-cell differentiation and specification genes, and thus thebeta-cell fate choice. Activates transcription by forming aheterodimer with RFX3 and binding to the X-box in the promoter oftarget genes (PubMed:20148032). Involved in glucose-stimulatedinsulin secretion by promoting insulin and L-type calcium channelgene transcription (PubMed:25497100).{ECO:0000269|PubMed:20148032, ECO:0000269|PubMed:25497100}.

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 DVL3_RFX6


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 DVL3_RFX6


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
DVL3CCNK, KLHL12, KAT7, BAHD1, ZNF408, SNX22, DPPA2, LNX1, ZBTB48, PITX1, CSNK1D, TNFAIP8L1, PRPF3, DIDO1, DAB2, AXIN1, CSNK2A1, CTNNB1, DVL1, PRICKLE1, CYLD, RPS10, WT1, C8orf33, PIK3CB, ITCH, LRRK2, CEP164, ZNF512B, PSMF1, ENKD1, HOMEZ, MATN2, PLN, WWOX, HUWE1, DVL2, DVL3, NUMA1, CSNK1E, STOM, ZNF264, RWDD2B, NXF1, ADAP1, KLF3, UTP3, NOL12, ZNF697, YTHDC1, SYT6, FAM13C, WWTR1, RASSF9, RASSF10, NTRK1, SSX2IP, CC2D2A, CEP120, CEP128, CEP135, CEP44, ODF2, CEP19, STIL, CENPJ, XPO1, ATL3, CDH1, FOXK2, NXF2, FOXK1, VANGL2, CRNKL1, NXN, VANGL1, SYF2, AQR, XAB2, CCDC12, ISY1, WDR83, PPIE, PCBP3, OBSL1, SNW1, CDC5L, UBE2D2, EYA4, CCDC88A, SEC24B, AAK1, PLEC, TRIM25RFX6CCNK, RFX2, SS18L1, DTX2, FHL3, LMO3, RFX3, RIPK3, CYFIP1, ARNT2, DGCR6, ESR2, KIF1A, PITX1, AES, NEDD9, PRKAA1, PRKAA2, SNRPB, SNRPC, STK16, FRS3, VPS37C, PLEKHN1, CATSPER1


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 DVL3_RFX6


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 DVL3_RFX6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRFX6C2748662Mitchell-Riley Syndrome2UNIPROT
TgeneRFX6C0025202melanoma1CTD_human
TgeneRFX6C0033578Prostatic Neoplasms1CTD_human