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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: 20168

FusionGeneSummary for LRP5_VPS37C

check button Fusion gene summary
Fusion gene informationFusion gene name: LRP5_VPS37C
Fusion gene ID: 20168
HgeneTgene
Gene symbol

LRP5

VPS37C

Gene ID

4041

55048

Gene nameLDL receptor related protein 5VPS37C, ESCRT-I subunit
SynonymsBMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2-
Cytomap

11q13.2

11q12.2

Type of geneprotein-codingprotein-coding
Descriptionlow-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7vacuolar protein sorting-associated protein 37CESCRT-I complex subunit VPS37ChVps37Cvacuolar protein sorting 37 homolog Cvacuolar protein sorting 37C
Modification date2018052320180522
UniProtAcc

O75197

A5D8V6

Ensembl transtripts involved in fusion geneENST00000294304, ENST00000529481, 
ENST00000301765, 
Fusion gene scores* DoF score21 X 16 X 9=30245 X 3 X 4=60
# samples 225
** MAII scorelog2(22/3024*10)=-3.78088271069641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRP5 [Title/Abstract] AND VPS37C [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


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
TCGARVLGGTCGA-HT-7686-01ALRP5chr11

68115711

+VPS37Cchr11

60906307

-
* 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
5CDS-5UTRENST00000294304ENST00000301765LRP5chr11

68115711

+VPS37Cchr11

60906307

-
intron-5UTRENST00000529481ENST00000301765LRP5chr11

68115711

+VPS37Cchr11

60906307

-

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FusionProtFeatures for LRP5_VPS37C


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

O75197

VPS37C

A5D8V6

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}. Component of the ESCRT-I complex, a regulator ofvesicular trafficking process. Required for the sorting ofendocytic ubiquitinated cargos into multivesicular bodies. May beinvolved in cell growth and differentiation.{ECO:0000269|PubMed:15509564}.

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_VPS37C


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_VPS37C


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, TRIM25VPS37CHGS, TSG101, VPS28, PDCD6IP, CEP55, APP, UBC, MVB12A, AES, XIAP, DDIT3, GOLGA2, PKNOX1, PLSCR1, PSMA3, SH3GL1, SORBS2, DAZAP2, PDCD6, SORBS3, STAM2, TFG, TACC3, RBPMS, WWP2, HNRNPUL1, FAM168A, TFIP11, RINT1, C1orf94, MAPK1IP1L, RFX6, HOXB5


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_VPS37C


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_VPS37C


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