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Fusion gene ID: 6156 |
FusionGeneSummary for CD2AP_DVL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD2AP_DVL1 | Fusion gene ID: 6156 | Hgene | Tgene | Gene symbol | CD2AP | DVL1 | Gene ID | 23607 | 1855 |
| Gene name | CD2 associated protein | dishevelled segment polarity protein 1 | |
| Synonyms | CMS | DRS2|DVL|DVL1L1|DVL1P1 | |
| Cytomap | 6p12.3 | 1p36.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domains | segment polarity protein dishevelled homolog DVL-1DSH homolog 1dishevelled 1 (homologous to Drosophila dsh)dishevelled, dsh homolog 1dishevelled-1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9Y5K6 | O14640 | |
| Ensembl transtripts involved in fusion gene | ENST00000359314, ENST00000486693, | ENST00000378891, ENST00000378888, | |
| Fusion gene scores | * DoF score | 13 X 6 X 10=780 | 3 X 1 X 4=12 |
| # samples | 13 | 4 | |
| ** MAII score | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | DVL1 | GO:0006366 | transcription by RNA polymerase II | 11742073 |
| Tgene | DVL1 | GO:0006469 | negative regulation of protein kinase activity | 10330181 |
| Tgene | DVL1 | GO:0030177 | positive regulation of Wnt signaling pathway | 11113207 |
| Tgene | DVL1 | GO:0032091 | negative regulation of protein binding | 19643732 |
| Tgene | DVL1 | GO:0045893 | positive regulation of transcription, DNA-templated | 12805222|17593335 |
| Tgene | DVL1 | GO:0050821 | protein stabilization | 19625296 |
| Tgene | DVL1 | GO:0060070 | canonical Wnt signaling pathway | 11113207|12556519|14747478|17593335 |
| Tgene | DVL1 | GO:0060071 | Wnt signaling pathway, planar cell polarity pathway | 12805222 |
| Tgene | DVL1 | GO:1903827 | regulation of cellular protein localization | 19625296 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | LUAD | TCGA-93-A4JO-01A | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000359314 | ENST00000378891 | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
| Frame-shift | ENST00000359314 | ENST00000378888 | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
| intron-3CDS | ENST00000486693 | ENST00000378891 | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
| intron-3CDS | ENST00000486693 | ENST00000378888 | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
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FusionProtFeatures for CD2AP_DVL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CD2AP | DVL1 |
| 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). |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CD2AP_DVL1 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| CD2AP | RAB4A, 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, UBE2A | DVL1 | EPS8, 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 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CD2AP_DVL1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CD2AP_DVL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CD2AP | C0002395 | Alzheimer's Disease | 2 | CTD_human |
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