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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: 6156

FusionGeneSummary for CD2AP_DVL1

check button Fusion gene summary
Fusion gene informationFusion gene name: CD2AP_DVL1
Fusion gene ID: 6156
HgeneTgene
Gene symbol

CD2AP

DVL1

Gene ID

23607

1855

Gene nameCD2 associated proteindishevelled segment polarity protein 1
SynonymsCMSDRS2|DVL|DVL1L1|DVL1P1
Cytomap

6p12.3

1p36.33

Type of geneprotein-codingprotein-coding
DescriptionCD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domainssegment polarity protein dishevelled homolog DVL-1DSH homolog 1dishevelled 1 (homologous to Drosophila dsh)dishevelled, dsh homolog 1dishevelled-1
Modification date2018052220180523
UniProtAcc

Q9Y5K6

O14640

Ensembl transtripts involved in fusion geneENST00000359314, ENST00000486693, 
ENST00000378891, ENST00000378888, 
Fusion gene scores* DoF score13 X 6 X 10=7803 X 1 X 4=12
# samples 134
** MAII scorelog2(13/780*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CD2AP [Title/Abstract] AND DVL1 [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
TgeneDVL1

GO:0006366

transcription by RNA polymerase II

11742073

TgeneDVL1

GO:0006469

negative regulation of protein kinase activity

10330181

TgeneDVL1

GO:0030177

positive regulation of Wnt signaling pathway

11113207

TgeneDVL1

GO:0032091

negative regulation of protein binding

19643732

TgeneDVL1

GO:0045893

positive regulation of transcription, DNA-templated

12805222|17593335

TgeneDVL1

GO:0050821

protein stabilization

19625296

TgeneDVL1

GO:0060070

canonical Wnt signaling pathway

11113207|12556519|14747478|17593335

TgeneDVL1

GO:0060071

Wnt signaling pathway, planar cell polarity pathway

12805222

TgeneDVL1

GO:1903827

regulation of cellular protein localization

19625296


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
TCGALDLUADTCGA-93-A4JO-01ACD2APchr6

47445984

+DVL1chr1

1278138

-
* 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-shitENST00000359314ENST00000378891CD2APchr6

47445984

+DVL1chr1

1278138

-
Frame-shitENST00000359314ENST00000378888CD2APchr6

47445984

+DVL1chr1

1278138

-
intron-3CDSENST00000486693ENST00000378891CD2APchr6

47445984

+DVL1chr1

1278138

-
intron-3CDSENST00000486693ENST00000378888CD2APchr6

47445984

+DVL1chr1

1278138

-

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FusionProtFeatures for CD2AP_DVL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD2AP

Q9Y5K6

DVL1

O14640

Seems to act as an adapter protein between membraneproteins and the actin cytoskeleton (PubMed:10339567). Incollaboration with CBLC, modulates the rate of RET turnover andmay act as regulatory checkpoint that limits the potency of GDNFon neuronal survival. Controls CBLC function, converting it froman inhibitor to a promoter of RET degradation (By similarity). Mayplay a role in receptor clustering and cytoskeletal polarity inthe junction between T-cell and antigen-presenting cell (Bysimilarity). May anchor the podocyte slit diaphragm to the actincytoskeleton in renal glomerolus. Also required for cytokinesis(PubMed:15800069). Plays a role in epithelial cell junctionsformation (PubMed:22891260). {ECO:0000250|UniProtKB:F1LRS8,ECO:0000250|UniProtKB:Q9JLQ0, ECO:0000269|PubMed:10339567,ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:22891260}. Participates in Wnt signaling by binding to thecytoplasmic C-terminus of frizzled family members and transducingthe Wnt signal to down-stream effectors. Plays a role both incanonical and non-canonical Wnt signaling. Plays a role in thesignal transduction pathways mediated by multiple Wnt genes.Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1and PAK1 form a ternary complex with MUSK which is important forMUSK-dependent regulation of AChR clustering during the formationof the neuromuscular junction (NMJ).

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 CD2AP_DVL1


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 CD2AP_DVL1


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
CD2APRAB4A, CBL, CD2, CAPZA1, CD2AP, NPHS2, BCAR1, MVB12A, SH3KBP1, NPHS1, NR4A1, NR2C2, HBP1, HOXC11, KHDRBS1, BLNK, TRA, PDCD6IP, ACTC1, CBLB, CTTN, EGFR, SH3GL2, DNM2, TSG101, INPP5D, CAPZB, CBLC, ARHGAP17, CAPZA2, MORF4L1P2, SH3BP1, GRB2, NRAS, VCAM1, ITGA4, LMNA, PTGES3, UBC, GZMB, LOX, ARHGEF10, BRCC3, CCDC6, ELP2, SPAG9, HNRNPR, HUWE1, MTA2, NR3C1, IKBKAP, KIAA0196, KIAA1033, LARP7, NOLC1, NRBP1, RABEP2, TSC22D1, USP34, WDHD1, FRS3, UBE2I, SLC25A41, STAP1, TAS2R7, ASNS, CSTF2, DPH5, GALE, IMPDH2, MSN, NPLOC4, PFDN2, PPA2, PRDX6, SCPEP1, SEC24C, SEC24D, TTC27, UFD1L, ZYX, NIT1, MED4, RPGRIP1L, KIF23, ATP6AP2, RACGAP1, KIF15, NF2, CDH1, TCP10L, ARHGAP44, MRPL12, DACH2, SETX, UBE2ADVL1EPS8, HECW1, DAB2, SMAD1, SMAD2, SMAD3, SMAD4, SMAD7, CSNK2A1, CTNNB1, USP13, ARRB1, AXIN1, FRAT1, ATN1, DVL3, DVL1, CSNK1D, CSNK1E, SIRT1, CYLD, NKD2, SDC4, ANXA7, NEDD4, ITCH, LRRK2, PSMA3, SIPA1, WWOX, HUWE1, DVL2, NUMA1, NCK2, TRIM69, WWTR1, FLNC, RASSF9, RASSF10, BTRC, AHI1, SSX2IP, CCP110, KIAA0753, CEP128, CEP135, CEP44, DCTN1, CEP19, CEP83, CETN2, TMEM17, XPO1, WWP2


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 CD2AP_DVL1


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 CD2AP_DVL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD2APC0002395Alzheimer's Disease2CTD_human