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Fusion gene ID: 20154 |
FusionGeneSummary for LRP5_CHD6 |
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Fusion gene information | Fusion gene name: LRP5_CHD6 | Fusion gene ID: 20154 | Hgene | Tgene | Gene symbol | LRP5 | CHD6 | Gene ID | 4041 | 84181 |
Gene name | LDL receptor related protein 5 | chromodomain helicase DNA binding protein 6 | |
Synonyms | BMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2 | CHD-6|CHD5|RIGB | |
Cytomap | 11q13.2 | 20q12 | |
Type of gene | protein-coding | protein-coding | |
Description | low-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7 | chromodomain-helicase-DNA-binding protein 6ATP-dependent helicase CHD6helicase C-terminal domain- and SNF2 N-terminal domain-containing proteinradiation-induced gene B protein | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | O75197 | Q8TD26 | |
Ensembl transtripts involved in fusion gene | ENST00000294304, ENST00000529481, | ENST00000373233, ENST00000309279, ENST00000373222, ENST00000480022, | |
Fusion gene scores | * DoF score | 21 X 16 X 9=3024 | 8 X 9 X 4=288 |
# samples | 22 | 10 | |
** MAII score | log2(22/3024*10)=-3.78088271069641 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/288*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: LRP5 [Title/Abstract] AND CHD6 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | LRP5 | GO:0008284 | positive regulation of cell proliferation | 9790987 |
Hgene | LRP5 | GO:0016055 | Wnt signaling pathway | 17955262 |
Hgene | LRP5 | GO:0044332 | Wnt signaling pathway involved in dorsal/ventral axis specification | 11029007 |
Hgene | LRP5 | GO:0045840 | positive regulation of mitotic nuclear division | 9790987 |
Hgene | LRP5 | GO:0045893 | positive regulation of transcription, DNA-templated | 15035989|17955262 |
Hgene | LRP5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12857724 |
Hgene | LRP5 | GO:0060070 | canonical Wnt signaling pathway | 12121999|12857724|15035989 |
![]() (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 | LUAD | TCGA-97-A4M3-01A | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000294304 | ENST00000373233 | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
5CDS-intron | ENST00000294304 | ENST00000309279 | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
5CDS-intron | ENST00000294304 | ENST00000373222 | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
5CDS-intron | ENST00000294304 | ENST00000480022 | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
intron-3CDS | ENST00000529481 | ENST00000373233 | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
intron-intron | ENST00000529481 | ENST00000309279 | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
intron-intron | ENST00000529481 | ENST00000373222 | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
intron-intron | ENST00000529481 | ENST00000480022 | LRP5 | chr11 | 68131411 | + | CHD6 | chr20 | 40086068 | - |
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FusionProtFeatures for LRP5_CHD6 |
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Hgene | Tgene |
LRP5 | CHD6 |
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. Plays a role in norrin (NDP) signaltransduction (PubMed:27228167). The Wnt-induced Fzd/LRP6coreceptor complex recruits DVL1 polymers to the plasma membranewhich, in turn, recruits the AXIN1/GSK3B-complex to the cellsurface promoting the formation of signalsomes and inhibitingAXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Appears be required for postnatal control of vascularregression in the eye (By similarity). Required for posteriorpatterning of the epiblast during gastrulation (By similarity).{ECO:0000250|UniProtKB:Q91VN0, ECO:0000269|PubMed:11336703,ECO:0000269|PubMed:11448771, ECO:0000269|PubMed:14727154,ECO:0000269|PubMed:14731402, ECO:0000269|PubMed:15778503,ECO:0000269|PubMed:27228167}. |
![]() * 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 LRP5_CHD6 |
![]() (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 LRP5_CHD6 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
LRP5 | AXIN1, SMAD9, CAPRIN2, SOST, DKK1, FZD8, TAZ, RASD2, SUSD4, PARP16, POMK, B3GALT2, ETV6, CHST9, LIPH, PRSS37, CSNK1A1, TGIF2LY, DKKL1, SERPINA12, ST8SIA4, SCGB1D1, DKK4, MGAT4C, F9, FAM3B, C4orf26, FCGRT, PODN, ADAM33, BRINP3, LRRC4C, CLPSL1, NXPH2, TRIM25 | CHD6 | AIRE, ARAF, TOLLIP, CHD3, ATXN1L, ZFYVE9, SOX2, HIST3H3, HIST1H2BG, SEC16A, RACGAP1, PAPD5, CDCA5, ESR1, EGFR |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for LRP5_CHD6 |
![]() (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 LRP5_CHD6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | LRP5 | C0432252 | Osteoporosis with pseudoglioma | 8 | CTD_human;ORPHANET;UNIPROT |
Hgene | LRP5 | C1866176 | EXUDATIVE VITREORETINOPATHY 4 (disorder) | 8 | CTD_human;UNIPROT |
Hgene | LRP5 | C1866079 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 | 5 | UNIPROT |
Hgene | LRP5 | C0242852 | Proliferative vitreoretinopathy | 1 | CTD_human |
Hgene | LRP5 | C0432273 | Worth disease | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | LRP5 | C1843330 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | LRP5 | C1851402 | Exudative vitreoretinopathy 1 | 1 | ORPHANET;UNIPROT |
Tgene | CHD6 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Tgene | CHD6 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
Tgene | CHD6 | C0027819 | Neuroblastoma | 1 | CTD_human |