![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 20164 |
FusionGeneSummary for LRP5_RBFOX1 |
![]() |
Fusion gene information | Fusion gene name: LRP5_RBFOX1 | Fusion gene ID: 20164 | Hgene | Tgene | Gene symbol | LRP5 | RBFOX1 | Gene ID | 4041 | 54715 |
Gene name | LDL receptor related protein 5 | RNA binding fox-1 homolog 1 | |
Synonyms | BMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2 | 2BP1|A2BP1|FOX-1|FOX1|HRNBP1 | |
Cytomap | 11q13.2 | 16p13.3 | |
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 | RNA binding protein fox-1 homolog 1RNA binding protein, fox-1 homolog 1ataxin 2-binding protein 1fox-1 homolog Afox-1-like RNA-binding protein 1hexaribonucleotide binding protein 1 isoform alphahexaribonucleotide binding protein 1 isoform betahexar | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O75197 | Q9NWB1 | |
Ensembl transtripts involved in fusion gene | ENST00000294304, ENST00000529481, | ENST00000550418, ENST00000553186, ENST00000547372, ENST00000422070, ENST00000535565, ENST00000547427, ENST00000552089, ENST00000547338, ENST00000436368, ENST00000311745, ENST00000355637, ENST00000340209, | |
Fusion gene scores | * DoF score | 21 X 16 X 9=3024 | 14 X 12 X 6=1008 |
# samples | 22 | 14 | |
** MAII score | log2(22/3024*10)=-3.78088271069641 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/1008*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: LRP5 [Title/Abstract] AND RBFOX1 [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) |
![]() |
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 | LD | BLCA | TCGA-XF-AAML-01A | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
* 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 |
5CDS-5UTR | ENST00000294304 | ENST00000550418 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-5UTR | ENST00000294304 | ENST00000553186 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-5UTR | ENST00000294304 | ENST00000547372 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-5UTR | ENST00000294304 | ENST00000422070 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-5UTR | ENST00000294304 | ENST00000535565 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-3UTR | ENST00000294304 | ENST00000547427 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-3UTR | ENST00000294304 | ENST00000552089 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-intron | ENST00000294304 | ENST00000547338 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-intron | ENST00000294304 | ENST00000436368 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-intron | ENST00000294304 | ENST00000311745 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-intron | ENST00000294304 | ENST00000355637 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
5CDS-intron | ENST00000294304 | ENST00000340209 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-5UTR | ENST00000529481 | ENST00000550418 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-5UTR | ENST00000529481 | ENST00000553186 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-5UTR | ENST00000529481 | ENST00000547372 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-5UTR | ENST00000529481 | ENST00000422070 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-5UTR | ENST00000529481 | ENST00000535565 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-3UTR | ENST00000529481 | ENST00000547427 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-3UTR | ENST00000529481 | ENST00000552089 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-intron | ENST00000529481 | ENST00000547338 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-intron | ENST00000529481 | ENST00000436368 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-intron | ENST00000529481 | ENST00000311745 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-intron | ENST00000529481 | ENST00000355637 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
intron-intron | ENST00000529481 | ENST00000340209 | LRP5 | chr11 | 68125315 | + | RBFOX1 | chr16 | 6704604 | + |
Top |
FusionProtFeatures for LRP5_RBFOX1 |
![]() |
Hgene | Tgene |
LRP5 | RBFOX1 |
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}. | RNA-binding protein that regulates alternative splicingevents by binding to 5'-UGCAUGU-3' elements. Regulates alternativesplicing of tissue-specific exons and of differentially splicedexons during erythropoiesis. {ECO:0000269|PubMed:16537540}. |
![]() * 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 |
Top |
FusionGeneSequence for LRP5_RBFOX1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for LRP5_RBFOX1 |
![]() |
![]() |
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 | RBFOX1 | PSMF1, DMRTB1, DVL2, HNRNPF, KIFAP3, LZTS2, NUMBL, RHOXF2, ATN1, ATXN1, ATXN2, PRRC2A, NOC2L, GCA, HSFX1, MAGED1, PCBP4, QKI, RBM24, RBFOX2, TNIP1, CELF3, RBFOX1, ALG13, BHLHE40, CRX, DAB1, DAZAP2, FAM168A, HSFY1, PRR20A, C1orf94, RBPMS, SNRPN, KLC1, TSNAX, PLK4, PHF12, GATAD1, RNF25, MKRN1, PRMT5, COPRS, SDR9C7, CAPNS2, RIOK1, IMPA2, CTSV, ECM1, SERPINA12, BBS2, G3BP1 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for LRP5_RBFOX1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for LRP5_RBFOX1 |
![]() (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 | RBFOX1 | C0004352 | Autistic Disorder | 2 | CTD_human |
Tgene | RBFOX1 | C0036572 | Seizures | 1 | CTD_human |