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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: 20166

FusionGeneSummary for LRP5_UVRAG

check button Fusion gene summary
Fusion gene informationFusion gene name: LRP5_UVRAG
Fusion gene ID: 20166
HgeneTgene
Gene symbol

LRP5

UVRAG

Gene ID

4041

7405

Gene nameLDL receptor related protein 5UV radiation resistance associated
SynonymsBMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2DHTX|VPS38|p63
Cytomap

11q13.2

11q13.5

Type of geneprotein-codingprotein-coding
Descriptionlow-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7UV radiation resistance-associated gene proteinbeclin 1 binding proteindisrupted in heterotaxy
Modification date2018052320180523
UniProtAcc

O75197

Q9P2Y5

Ensembl transtripts involved in fusion geneENST00000294304, ENST00000529481, 
ENST00000356136, ENST00000528420, 
ENST00000533454, ENST00000531818, 
ENST00000532130, ENST00000539288, 
ENST00000525872, ENST00000538870, 
Fusion gene scores* DoF score21 X 16 X 9=302424 X 13 X 11=3432
# samples 2225
** MAII scorelog2(22/3024*10)=-3.78088271069641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(25/3432*10)=-3.77904955283746
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRP5 [Title/Abstract] AND UVRAG [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
HgeneLRP5

GO:0008284

positive regulation of cell proliferation

9790987

HgeneLRP5

GO:0016055

Wnt signaling pathway

17955262

HgeneLRP5

GO:0044332

Wnt signaling pathway involved in dorsal/ventral axis specification

11029007

HgeneLRP5

GO:0045840

positive regulation of mitotic nuclear division

9790987

HgeneLRP5

GO:0045893

positive regulation of transcription, DNA-templated

15035989|17955262

HgeneLRP5

GO:0045944

positive regulation of transcription by RNA polymerase II

12857724

HgeneLRP5

GO:0060070

canonical Wnt signaling pathway

12121999|12857724|15035989

TgeneUVRAG

GO:0071900

regulation of protein serine/threonine kinase activity

22542840

TgeneUVRAG

GO:0097680

double-strand break repair via classical nonhomologous end joining

22542840


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
TCGARVSKCMTCGA-EB-A57M-01ALRP5chr11

68207384

+UVRAGchr11

75776754

+
* 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-shiftENST00000294304ENST00000356136LRP5chr11

68207384

+UVRAGchr11

75776754

+
Frame-shiftENST00000294304ENST00000528420LRP5chr11

68207384

+UVRAGchr11

75776754

+
Frame-shiftENST00000294304ENST00000533454LRP5chr11

68207384

+UVRAGchr11

75776754

+
Frame-shiftENST00000294304ENST00000531818LRP5chr11

68207384

+UVRAGchr11

75776754

+
Frame-shiftENST00000294304ENST00000532130LRP5chr11

68207384

+UVRAGchr11

75776754

+
Frame-shiftENST00000294304ENST00000539288LRP5chr11

68207384

+UVRAGchr11

75776754

+
5CDS-intronENST00000294304ENST00000525872LRP5chr11

68207384

+UVRAGchr11

75776754

+
5CDS-intronENST00000294304ENST00000538870LRP5chr11

68207384

+UVRAGchr11

75776754

+
intron-3CDSENST00000529481ENST00000356136LRP5chr11

68207384

+UVRAGchr11

75776754

+
intron-3CDSENST00000529481ENST00000528420LRP5chr11

68207384

+UVRAGchr11

75776754

+
intron-3CDSENST00000529481ENST00000533454LRP5chr11

68207384

+UVRAGchr11

75776754

+
intron-3CDSENST00000529481ENST00000531818LRP5chr11

68207384

+UVRAGchr11

75776754

+
intron-3CDSENST00000529481ENST00000532130LRP5chr11

68207384

+UVRAGchr11

75776754

+
intron-3CDSENST00000529481ENST00000539288LRP5chr11

68207384

+UVRAGchr11

75776754

+
intron-intronENST00000529481ENST00000525872LRP5chr11

68207384

+UVRAGchr11

75776754

+
intron-intronENST00000529481ENST00000538870LRP5chr11

68207384

+UVRAGchr11

75776754

+

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FusionProtFeatures for LRP5_UVRAG


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LRP5

O75197

UVRAG

Q9P2Y5

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}. Versatile protein that is involved in regulation ofdifferent cellular pathways implicated in membrane trafficking.Involved in regulation of the COPI-dependent retrograde transportfrom Golgi and the endoplasmic reticulum by associating with theNRZ complex; the function is dependent on its binding tophosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:24056303).During autophagy acts as regulatory subunit of the alternativePI3K complex II (PI3KC3-C2) that mediates formation ofphosphatidylinositol 3-phosphate and is believed to be involved inmaturation of autophagosomes and endocytosis. Activates lipidkinase activity of PIK3C3. Involved in the regulation ofdegradative endocytic trafficking and cytokinesis, and inregulation of ATG9A transport from the Golgi to the autophagosome;the functions seems to implicate its association with PI3KC3-C2(PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved inmaturation of autophagosomes and degradative endocytic traffickingindependently of BECN1 but depending on its association with aclass C Vps complex (possibly the HOPS complex); the associationis also proposed to promote autophagosome recruitment andactivation of Rab7 and endosome-endosome fusion events(PubMed:18552835). Enhances class C Vps complex (possibly HOPScomplex) association with a SNARE complex and promotes fusogenicSNARE complex formation during late endocytic membrane fusion(PubMed:24550300). In case of negative-strand RNA virus infectionis required for efficient virus entry, promotes endocytictransport of virions and is implicated in a VAMP8-specificfusogenic SNARE complex assembly (PubMed:24550300).{ECO:0000269|PubMed:18552835, ECO:0000269|PubMed:20643123,ECO:0000269|PubMed:24056303, ECO:0000305}. Involved in maintaining chromosomal stability. PromotesDNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required forcentrosome stability and proper chromosome segregation(PubMed:22542840). {ECO:0000269|PubMed:22542840}.

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 LRP5_UVRAG


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 LRP5_UVRAG


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
LRP5AXIN1, 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, TRIM25UVRAGBECN1, PIK3C3, VPS33A, VPS18, PIK3R4, PTPRA, KIAA0226, TGFBRAP1, VPS16, VPS11, VPS33B, VPS39, YWHAE, RALB, USP18, XPO1, MYO1C, DDB1, DDB2, CUL4A, RBX1, KIAA0226L


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 LRP5_UVRAG


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 LRP5_UVRAG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLRP5C0432252Osteoporosis with pseudoglioma8CTD_human;ORPHANET;UNIPROT
HgeneLRP5C1866176EXUDATIVE VITREORETINOPATHY 4 (disorder)8CTD_human;UNIPROT
HgeneLRP5C1866079BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15UNIPROT
HgeneLRP5C0242852Proliferative vitreoretinopathy1CTD_human
HgeneLRP5C0432273Worth disease1CTD_human;ORPHANET;UNIPROT
HgeneLRP5C1843330OSTEOPETROSIS, AUTOSOMAL DOMINANT 11CTD_human;ORPHANET;UNIPROT
HgeneLRP5C1851402Exudative vitreoretinopathy 11ORPHANET;UNIPROT