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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: 20155

FusionGeneSummary for LRP5_CHRM1

check button Fusion gene summary
Fusion gene informationFusion gene name: LRP5_CHRM1
Fusion gene ID: 20155
HgeneTgene
Gene symbol

LRP5

CHRM1

Gene ID

4041

1128

Gene nameLDL receptor related protein 5cholinergic receptor muscarinic 1
SynonymsBMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2HM1|M1|M1R
Cytomap

11q13.2

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionlow-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7muscarinic acetylcholine receptor M1acetylcholine receptor, muscarinic 1
Modification date2018052320180523
UniProtAcc

O75197

P11229

Ensembl transtripts involved in fusion geneENST00000294304, ENST00000529481, 
ENST00000306960, 
Fusion gene scores* DoF score21 X 16 X 9=30243 X 1 X 3=9
# samples 223
** MAII scorelog2(22/3024*10)=-3.78088271069641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: LRP5 [Title/Abstract] AND CHRM1 [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
TCGALDSTADTCGA-HU-A4GH-01ALRP5chr11

68181480

+CHRM1chr11

62678650

-
* 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-5UTRENST00000294304ENST00000306960LRP5chr11

68181480

+CHRM1chr11

62678650

-
intron-5UTRENST00000529481ENST00000306960LRP5chr11

68181480

+CHRM1chr11

62678650

-

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FusionProtFeatures for LRP5_CHRM1


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

O75197

CHRM1

P11229

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}. The muscarinic acetylcholine receptor mediates variouscellular responses, including inhibition of adenylate cyclase,breakdown of phosphoinositides and modulation of potassiumchannels through the action of G proteins. Primary transducingeffect is Pi turnover.

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_CHRM1


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_CHRM1


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, TRIM25CHRM1GPRASP1, GPRASP2, CDC14A


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_CHRM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCHRM1P11229DB00185CevimelineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00202SuccinylcholineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00209TrospiumMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00215CitalopramMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00219OxyphenoniumMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00245BenzatropineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00246ZiprasidoneMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00280DisopyramideMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00321AmitriptylineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00332Ipratropium bromideMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00340MetixeneMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00354BuclizineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00363ClozapineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00376TrihexyphenidylMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00383OxyphencyclimineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00387ProcyclidineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00392EthopropazineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00408LoxapineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00411CarbacholMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00424HyoscyamineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00434CyproheptadineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00454PethidineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00458ImipramineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00540NortriptylineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00543AmoxapineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00543AmoxapineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00670PirenzepineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00725Homatropine MethylbromideMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00726TrimipramineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00771ClidiniumMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00777PropiomazineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00782PropanthelineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00804DicyclomineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00805MinaprineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00835BrompheniramineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00979CyclopentolateMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB01019BethanecholMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB01148FlavoxateMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB01224QuetiapineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB01409TiotropiumMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB01591SolifenacinMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB01618MolindoneMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB03128AcetylcholineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB04843MepenzolateMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB06702FesoterodineMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB06787HexocycliumMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB08897AclidiniumMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB09076UmeclidiniumMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB09167DosulepinMuscarinic acetylcholine receptor M1small moleculeapproved
TgeneCHRM1P11229DB00907CocaineMuscarinic acetylcholine receptor M1small moleculeapproved|illicit
TgeneCHRM1P11229DB00334OlanzapineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00496DarifenacinMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00555LamotrigineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00568CinnarizineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00622NicardipineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00715ParoxetineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00747ScopolamineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00809TropicamideMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00810BiperidenMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00934MaprotilineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00940MethanthelineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01036TolterodineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01062OxybutyninMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01069PromethazineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01085PilocarpineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01142DoxepinMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01151DesipramineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01175EscitalopramMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01233MetoclopramideMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01238AripiprazoleMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB01403MethotrimeprazineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational
TgeneCHRM1P11229DB00477ChlorpromazineMuscarinic acetylcholine receptor M1small moleculeapproved|investigational|vet_approved
TgeneCHRM1P11229DB00986GlycopyrroniumMuscarinic acetylcholine receptor M1small moleculeapproved|investigational|vet_approved
TgeneCHRM1P11229DB00875FlupentixolMuscarinic acetylcholine receptor M1small moleculeapproved|investigational|withdrawn
TgeneCHRM1P11229DB01239ChlorprothixeneMuscarinic acetylcholine receptor M1small moleculeapproved|investigational|withdrawn
TgeneCHRM1P11229DB00366DoxylamineMuscarinic acetylcholine receptor M1small moleculeapproved|vet_approved
TgeneCHRM1P11229DB00420PromazineMuscarinic acetylcholine receptor M1small moleculeapproved|vet_approved
TgeneCHRM1P11229DB00508TriflupromazineMuscarinic acetylcholine receptor M1small moleculeapproved|vet_approved
TgeneCHRM1P11229DB00572AtropineMuscarinic acetylcholine receptor M1small moleculeapproved|vet_approved
TgeneCHRM1P11229DB01221KetamineMuscarinic acetylcholine receptor M1small moleculeapproved|vet_approved
TgeneCHRM1P11229DB11156PyrantelMuscarinic acetylcholine receptor M1small moleculeapproved|vet_approved
TgeneCHRM1P11229DB00342TerfenadineMuscarinic acetylcholine receptor M1small moleculeapproved|withdrawn

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RelatedDiseases for LRP5_CHRM1


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
TgeneCHRM1C0036572Seizures5CTD_human
TgeneCHRM1C0036341Schizophrenia4PSYGENET
TgeneCHRM1C0007786Brain Ischemia1CTD_human
TgeneCHRM1C0014544Epilepsy1CTD_human
TgeneCHRM1C0025261Memory Disorders1CTD_human
TgeneCHRM1C0221765Chronic schizophrenia1PSYGENET