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Fusion gene ID: 9774 |
FusionGeneSummary for DERA_LRP6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DERA_LRP6 | Fusion gene ID: 9774 | Hgene | Tgene | Gene symbol | DERA | LRP6 | Gene ID | 51071 | 4040 |
| Gene name | deoxyribose-phosphate aldolase | LDL receptor related protein 6 | |
| Synonyms | CGI-26|DEOC | ADCAD2|STHAG7 | |
| Cytomap | 12p12.3 | 12p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | deoxyribose-phosphate aldolase2-deoxy-D-ribose 5-phosphate aldolase2-deoxyribose-5-phosphate aldolase homologdeoxyriboaldolasedeoxyribose-phosphate aldolase (putative)phosphodeoxyriboaldolaseputative deoxyribose-phosphate aldolase | low-density lipoprotein receptor-related protein 6LRP-6 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y315 | O75581 | |
| Ensembl transtripts involved in fusion gene | ENST00000428559, ENST00000532964, ENST00000526530, ENST00000532573, | ENST00000261349, ENST00000543091, ENST00000540415, | |
| Fusion gene scores | * DoF score | 6 X 3 X 5=90 | 4 X 4 X 3=48 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DERA [Title/Abstract] AND LRP6 [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 |
| Hgene | DERA | GO:0046121 | deoxyribonucleoside catabolic process | 9226884 |
| Tgene | LRP6 | GO:0014029 | neural crest formation | 11029007 |
| Tgene | LRP6 | GO:0014033 | neural crest cell differentiation | 11029007 |
| Tgene | LRP6 | GO:0016055 | Wnt signaling pathway | 11357136|16263759 |
| Tgene | LRP6 | GO:0044332 | Wnt signaling pathway involved in dorsal/ventral axis specification | 11029007 |
| Tgene | LRP6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12857724 |
| Tgene | LRP6 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 14739301 |
| Tgene | LRP6 | GO:0060070 | canonical Wnt signaling pathway | 12121999|14739301|16543246|17239604|20059949|20137080 |
| Tgene | LRP6 | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 19107203 |
| Tgene | LRP6 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 11448771|11742004|15271658|19107203|20093106 |
| Tgene | LRP6 | GO:2000055 | positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification | 15908424 |
| 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 | RV | BRCA | TCGA-EW-A1J6-01A | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| * 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 | ENST00000428559 | ENST00000261349 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| Frame-shift | ENST00000428559 | ENST00000543091 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| 5CDS-intron | ENST00000428559 | ENST00000540415 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| intron-3CDS | ENST00000532964 | ENST00000261349 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| intron-3CDS | ENST00000532964 | ENST00000543091 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| intron-intron | ENST00000532964 | ENST00000540415 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| Frame-shift | ENST00000526530 | ENST00000261349 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| Frame-shift | ENST00000526530 | ENST00000543091 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| 5CDS-intron | ENST00000526530 | ENST00000540415 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| intron-3CDS | ENST00000532573 | ENST00000261349 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| intron-3CDS | ENST00000532573 | ENST00000543091 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
| intron-intron | ENST00000532573 | ENST00000540415 | DERA | chr12 | 16135370 | + | LRP6 | chr12 | 12302087 | - |
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FusionProtFeatures for DERA_LRP6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DERA | LRP6 |
| Catalyzes a reversible aldol reaction betweenacetaldehyde and D-glyceraldehyde 3-phosphate to generate 2-deoxy-D-ribose 5-phosphate. Participates in stress granule (SG)assembly. May allow ATP production from extracellular deoxyinosinein conditions of energy deprivation.{ECO:0000269|PubMed:25229427}. | Component of the Wnt-Fzd-LRP5-LRP6 complex that triggersbeta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surfacecoreceptor of Wnt/beta-catenin signaling, which plays a pivotalrole in bone formation. The Wnt-induced Fzd/LRP6 coreceptorcomplex recruits DVL1 polymers to the plasma membrane which, inturn, recruits the AXIN1/GSK3B-complex to the cell surfacepromoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Requiredfor posterior patterning of the epiblast during gastrulation (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:11357136,ECO:0000269|PubMed:11448771, ECO:0000269|PubMed:15778503,ECO:0000269|PubMed:16341017, ECO:0000269|PubMed:16513652,ECO:0000269|PubMed:17326769, ECO:0000269|PubMed:17400545,ECO:0000269|PubMed:19107203, ECO:0000269|PubMed:19293931,ECO:0000269|PubMed:19801552}. |
| 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 DERA_LRP6 |
| 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 DERA_LRP6 |
| 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 |
| DERA | PAAF1, NEK6, CBS, ALDH16A1, MAGIX, LANCL1, PCMT1, AGL, C6orf211, ASPSCR1, ATIC, PNP, PNPO, TYMP, TLR1, ERP29, PPIL1 | LRP6 | NPC1, APOB, AXIN1, ZNRF3, WNT3A, WNT5A, LRRK2, ATP13A2, CAPRIN2, SOST, FZD8, CTNNB1, GSK3B, CAV1, DKK1, FZD5, WNT1, LGR4, IQGAP1, SERPINF1, TAZ, RASD2, PARP16, RASSF1, POMK, ETV6, CHST9, GAS8, TMEM17, EPN1, PTPRH, TGIF2LY, CSNK1A1, SCGB1D1, PAPD7, PRSS37, MGAT4C, ADAM33, KLK5, FCGRT, ST8SIA4, WNT10B, DKKL1 |
| - 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 DERA_LRP6 |
| 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 DERA_LRP6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LRP6 | C1970440 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder) | 2 | CTD_human;UNIPROT |
| Tgene | LRP6 | C4225231 | TOOTH AGENESIS, SELECTIVE, 7 | 1 | UNIPROT |
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