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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: 4621

FusionGeneSummary for C11orf30_LRP5

check button Fusion gene summary
Fusion gene informationFusion gene name: C11orf30_LRP5
Fusion gene ID: 4621
HgeneTgene
Gene symbol

C11orf30

LRP5

Gene ID

56946

4041

Gene nameEMSY, BRCA2 interacting transcriptional repressorLDL receptor related protein 5
SynonymsC11orf30|GL002BMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2
Cytomap

11q13.5

11q13.2

Type of geneprotein-codingprotein-coding
DescriptionBRCA2-interacting transcriptional repressor EMSYprotein EMSYlow-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7
Modification date2018051920180523
UniProtAcc

O75197

Ensembl transtripts involved in fusion geneENST00000533988, ENST00000524490, 
ENST00000334736, ENST00000343878, 
ENST00000525959, ENST00000533248, 
ENST00000525919, ENST00000524767, 
ENST00000525038, ENST00000529032, 
ENST00000294304, ENST00000529481, 
Fusion gene scores* DoF score5 X 5 X 3=7510 X 9 X 7=630
# samples 612
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/630*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C11orf30 [Title/Abstract] AND LRP5 [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
TgeneLRP5

GO:0008284

positive regulation of cell proliferation

9790987

TgeneLRP5

GO:0016055

Wnt signaling pathway

17955262

TgeneLRP5

GO:0044332

Wnt signaling pathway involved in dorsal/ventral axis specification

11029007

TgeneLRP5

GO:0045840

positive regulation of mitotic nuclear division

9790987

TgeneLRP5

GO:0045893

positive regulation of transcription, DNA-templated

15035989|17955262

TgeneLRP5

GO:0045944

positive regulation of transcription by RNA polymerase II

12857724

TgeneLRP5

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
TCGARVBRCATCGA-LD-A7W6-01AC11orf30chr11

76175124

+LRP5chr11

68153784

+
* 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
intron-3CDSENST00000533988ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
intron-intronENST00000533988ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
Frame-shitENST00000524490ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
5CDS-intronENST00000524490ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
Frame-shitENST00000334736ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
5CDS-intronENST00000334736ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
Frame-shitENST00000343878ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
5CDS-intronENST00000343878ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
intron-3CDSENST00000525959ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
intron-intronENST00000525959ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
Frame-shitENST00000533248ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
5CDS-intronENST00000533248ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
Frame-shitENST00000525919ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
5CDS-intronENST00000525919ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
Frame-shitENST00000524767ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
5CDS-intronENST00000524767ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
Frame-shitENST00000525038ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
5CDS-intronENST00000525038ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+
Frame-shitENST00000529032ENST00000294304C11orf30chr11

76175124

+LRP5chr11

68153784

+
5CDS-intronENST00000529032ENST00000529481C11orf30chr11

76175124

+LRP5chr11

68153784

+

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FusionProtFeatures for C11orf30_LRP5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C11orf30

LRP5

O75197

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. 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}.

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 C11orf30_LRP5


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 C11orf30_LRP5


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
C11orf30BRCA2, CBX1, ZMYND11, ZNF335, ASH2L, CCAR2, RBBP5, TADA2A, HDAC1, HDAC2, DDIT3, ZNF646, MOV10, NXF1, HIST3H3, GATAD1, TMEM171, MORF4L1, DYNLT1, CSNK2A2, TRIM26, SIN3B, RTEL1, PHF12, KIF7, FOXJ2, FOXK2, ZNF281, KDM5A, ZNF131, MORF4L2, RBBP7, C11orf30, QSER1, CHD9, AKAP8, BCAS2, KRT18, SNRPA1, SON, NUP214, HNRNPM, NUP98, PHC3, NUP88, NCAPH2LRP5AXIN1, 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


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 C11orf30_LRP5


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 C11orf30_LRP5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneLRP5C0432252Osteoporosis with pseudoglioma8CTD_human;ORPHANET;UNIPROT
TgeneLRP5C1866176EXUDATIVE VITREORETINOPATHY 4 (disorder)8CTD_human;UNIPROT
TgeneLRP5C1866079BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15UNIPROT
TgeneLRP5C0242852Proliferative vitreoretinopathy1CTD_human
TgeneLRP5C0432273Worth disease1CTD_human;ORPHANET;UNIPROT
TgeneLRP5C1843330OSTEOPETROSIS, AUTOSOMAL DOMINANT 11CTD_human;ORPHANET;UNIPROT
TgeneLRP5C1851402Exudative vitreoretinopathy 11ORPHANET;UNIPROT