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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: 10724

FusionGeneSummary for DVL2_BTBD2

check button Fusion gene summary
Fusion gene informationFusion gene name: DVL2_BTBD2
Fusion gene ID: 10724
HgeneTgene
Gene symbol

DVL2

BTBD2

Gene ID

1856

55643

Gene namedishevelled segment polarity protein 2BTB domain containing 2
Synonyms--
Cytomap

17p13.1

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionsegment polarity protein dishevelled homolog DVL-2dishevelled 2 (homologous to Drosophila dsh)dishevelled, dsh homolog 2BTB/POZ domain-containing protein 2BTB (POZ) domain containing 2
Modification date2018052320180523
UniProtAcc

O14641

Q9BX70

Ensembl transtripts involved in fusion geneENST00000005340, ENST00000575458, 
ENST00000574642, 
ENST00000255608, 
ENST00000590646, 
Fusion gene scores* DoF score5 X 5 X 3=755 X 3 X 4=60
# samples 55
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DVL2 [Title/Abstract] AND BTBD2 [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
HgeneDVL2

GO:0006366

transcription by RNA polymerase II

11742073

HgeneDVL2

GO:0043507

positive regulation of JUN kinase activity

17593335

HgeneDVL2

GO:0044340

canonical Wnt signaling pathway involved in regulation of cell proliferation

18787224

HgeneDVL2

GO:0045893

positive regulation of transcription, DNA-templated

12805222|17593335

HgeneDVL2

GO:0051091

positive regulation of DNA binding transcription factor activity

17593335

HgeneDVL2

GO:0060070

canonical Wnt signaling pathway

17593335

HgeneDVL2

GO:0060071

Wnt signaling pathway, planar cell polarity pathway

12805222


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
ChiTaRS3.1DA514644DVL2chr17

7137386

-BTBD2chr19

1997463

-
* 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-shiftENST00000005340ENST00000255608DVL2chr17

7137386

-BTBD2chr19

1997463

-
5CDS-5UTRENST00000005340ENST00000590646DVL2chr17

7137386

-BTBD2chr19

1997463

-
Frame-shiftENST00000575458ENST00000255608DVL2chr17

7137386

-BTBD2chr19

1997463

-
5CDS-5UTRENST00000575458ENST00000590646DVL2chr17

7137386

-BTBD2chr19

1997463

-
intron-3CDSENST00000574642ENST00000255608DVL2chr17

7137386

-BTBD2chr19

1997463

-
intron-5UTRENST00000574642ENST00000590646DVL2chr17

7137386

-BTBD2chr19

1997463

-

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FusionProtFeatures for DVL2_BTBD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DVL2

O14641

BTBD2

Q9BX70

Plays a role in the signal transduction pathwaysmediated by multiple Wnt genes. Participates both in canonical andnon-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signalto down-stream effectors. Promotes internalization and degradationof frizzled proteins upon Wnt signaling.{ECO:0000250|UniProtKB:Q60838, ECO:0000269|PubMed:19252499}.

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 DVL2_BTBD2


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 DVL2_BTBD2


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
DVL2PCBD1, USP5, POLI, CCDC33, DPPA2, AP2M1, MCRS1, ARHGEF39, ARR3, U2AF2, TIFA, TCEB3B, DDI1, RNPS1, CPSF7, SNF8, SNIP1, CSNK1E, PRPF3, BAHD1, TP53, BAG3, TRAF2, ZNF263, RBPMS, ENKD1, OTULIN, AP1M1, SORBS3, RHOXF2, ZNF250, ZNF165, DVL2, THAP1, ZBTB8A, DAB2, CSNK2A1, CTNNB1, ARRB1, MAP3K1, AXIN1, SIRT1, MAP1LC3A, GABARAP, VHL, NHLRC1, ELAVL1, ITCH, RBFOX1, ATN1, LRRK2, LYN, CTBP2, PLA2G12A, GABARAPL1, SQSTM1, TARS, IRS1, IRS2, WWOX, RNF185, DVL1, DVL3, IQGAP1, NUMA1, WWTR1, PSMD8, PRG2, ZNRF3, RNF43, RASSF9, RASSF10, NTRK1, KIAA0753, MED4, SSX2IP, CEP128, CEP135, CEP44, ODF2, RPGRIP1L, CEP19, DYNLT1, LCA5, SASS6, EIF1B, UBAC1, RUSC1, ZBTB48, UIMC1, MAGOHB, PRKAA1, GMCL1P1, TPM3, WAS, YES1, NOL12, ZGPAT, XPO1, C1QBP, APC, HSPA5, TNFAIP1, COBLL1, ERC1, RSRC1, ARL6IP4, DDX41, NBAS, CWC25, C19orf33, PHLDB2, CWF19L2, FOXK1, FOXK2, ZBTB17, DACT1, FZD5, ATG14, PIK3R4, ATG16L1, WWP1, WWP2, EPN1, FBXL17, CUL3, TRIM29, NXF2, LRRC4C, OLFM2, STK11, ABL1, WT1, RNF41BTBD2C14orf1, GBP2, GDF9, CCDC90B, IGSF21, PTN, COPS6, RBM48, SETDB1, UBR1, CRMP1, GAPDH, TLE1, TP53, UNC119, BRD7, EEF1A1, TOP1, COPS5, UBXN1, DPPA4, CUL3, RFWD2, COPS3, COPS4, SMAD2, ZNF512B, CDK2, KPNA2, C9orf78, COPS2, OSGIN1, COPS7A, BTBD1, COPS8


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 DVL2_BTBD2


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 DVL2_BTBD2


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