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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:MDM1-LGR5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MDM1-LGR5
FusionPDB ID: 52382
FusionGDB2.0 ID: 52382
HgeneTgene
Gene symbol

MDM1

LGR5

Gene ID

56890

8549

Gene nameMdm1 nuclear proteinleucine rich repeat containing G protein-coupled receptor 5
Synonyms-FEX|GPR49|GPR67|GRP49|HG38
Cytomap

12q15

12q21.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear protein MDM1Mdm4, transformed 3T3 cell double minute 1, p53 binding proteinnuclear protein double minute 1leucine-rich repeat-containing G-protein coupled receptor 5G-protein coupled receptor 49G-protein coupled receptor 67G-protein coupled receptor HG38orphan G protein-coupled receptor HG38
Modification date2020031320200329
UniProtAcc

Q8TC05

O75473

Ensembl transtripts involved in fusion geneENST idsENST00000303145, ENST00000411698, 
ENST00000540418, ENST00000393543, 
ENST00000430606, ENST00000545724, 
ENST00000266674, ENST00000536515, 
ENST00000540815, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 10 X 5=55013 X 15 X 9=1755
# samples 1120
** MAII scorelog2(11/550*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/1755*10)=-3.1333991254172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MDM1 [Title/Abstract] AND LGR5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MDM1(68690703)-LGR5(71898394), # samples:1
Anticipated loss of major functional domain due to fusion event.MDM1-LGR5 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MDM1-LGR5 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MDM1-LGR5 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
TgeneLGR5

GO:0090263

positive regulation of canonical Wnt signaling pathway

21693646|22815884


check buttonFusion gene breakpoints across MDM1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across LGR5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-AN-A0AM-01AMDM1chr12

68690703

-LGR5chr12

71898394

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000540418MDM1chr1268690703-ENST00000266674LGR5chr1271898394+5796170817184219833
ENST00000540418MDM1chr1268690703-ENST00000536515LGR5chr1271898394+4112170817184003761
ENST00000540418MDM1chr1268690703-ENST00000540815LGR5chr1271898394+4250170817184147809

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000540418ENST00000266674MDM1chr1268690703-LGR5chr1271898394+0.0011364560.9988636
ENST00000540418ENST00000536515MDM1chr1268690703-LGR5chr1271898394+0.0019956850.9980044
ENST00000540418ENST00000540815MDM1chr1268690703-LGR5chr1271898394+0.0021365530.9978635

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>52382_52382_1_MDM1-LGR5_MDM1_chr12_68690703_ENST00000540418_LGR5_chr12_71898394_ENST00000266674_length(amino acids)=833AA_BP=
MNNISQLLPNPLPSLRFLEELRLAGNALTYIPKGAFTGLYSLKVLMLQNNQLRHVPTEALQNLRSLQSLRLDANHISYVPPSCFSGLHSL
RHLWLDDNALTEIPVQAFRSLSALQAMTLALNKIHHIPDYAFGNLSSLVVLHLHNNRIHSLGKKCFDGLHSLETLDLNYNNLDEFPTAIR
TLSNLKELGFHSNNIRSIPEKAFVGNPSLITIHFYDNPIQFVGRSAFQHLPELRTLTLNGASQITEFPDLTGTANLESLTLTGAQISSLP
QTVCNQLPNLQVLDLSYNLLEDLPSFSVCQKLQKIDLRHNEIYEIKVDTFQQLLSLRSLNLAWNKIAIIHPNAFSTLPSLIKLDLSSNLL
SSFPITGLHGLTHLKLTGNHALQSLISSENFPELKVIEMPYAYQCCAFGVCENAYKISNQWNKGDNSSMDDLHKKDAGMFQAQDERDLED
FLLDFEEDLKALHSVQCSPSPGPFKPCEHLLDGWLIRIGVWTIAVLALTCNALVTSTVFRSPLYISPIKLLIGVIAAVNMLTGVSSAVLA
GVDAFTFGSFARHGAWWENGVGCHVIGFLSIFASESSVFLLTLAALERGFSVKYSAKFETKAPFSSLKVIILLCALLALTMAAVPLLGGS
KYGASPLCLPLPFGEPSTMGYMVALILLNSLCFLMMTIAYTKLYCNLDKGDLENIWDCSMVKHIALLLFTNCILNCPVAFLSFSSLINLT
FISPEVIKFILLVVVPLPACLNPLLYILFNPHFKEDLVSLRKQTYVWTRSKHPSLMSINSDDVEKQSCDSTQALVTFTSSSITYDLPPSS

--------------------------------------------------------------

>52382_52382_2_MDM1-LGR5_MDM1_chr12_68690703_ENST00000540418_LGR5_chr12_71898394_ENST00000536515_length(amino acids)=761AA_BP=
MNNISQLLPNPLPSLRFLEELRLAGNALTYIPKGAFTGLYSLKVLMLQNNQLRHVPTEALQNLRSLQSLHLHNNRIHSLGKKCFDGLHSL
ETLDLNYNNLDEFPTAIRTLSNLKELGFHSNNIRSIPEKAFVGNPSLITIHFYDNPIQFVGRSAFQHLPELRTLTLNGASQITEFPDLTG
TANLESLTLTGAQISSLPQTVCNQLPNLQVLDLSYNLLEDLPSFSVCQKLQKIDLRHNEIYEIKVDTFQQLLSLRSLNLAWNKIAIIHPN
AFSTLPSLIKLDLSSNLLSSFPITGLHGLTHLKLTGNHALQSLISSENFPELKVIEMPYAYQCCAFGVCENAYKISNQWNKGDNSSMDDL
HKKDAGMFQAQDERDLEDFLLDFEEDLKALHSVQCSPSPGPFKPCEHLLDGWLIRIGVWTIAVLALTCNALVTSTVFRSPLYISPIKLLI
GVIAAVNMLTGVSSAVLAGVDAFTFGSFARHGAWWENGVGCHVIGFLSIFASESSVFLLTLAALERGFSVKYSAKFETKAPFSSLKVIIL
LCALLALTMAAVPLLGGSKYGASPLCLPLPFGEPSTMGYMVALILLNSLCFLMMTIAYTKLYCNLDKGDLENIWDCSMVKHIALLLFTNC
ILNCPVAFLSFSSLINLTFISPEVIKFILLVVVPLPACLNPLLYILFNPHFKEDLVSLRKQTYVWTRSKHPSLMSINSDDVEKQSCDSTQ

--------------------------------------------------------------

>52382_52382_3_MDM1-LGR5_MDM1_chr12_68690703_ENST00000540418_LGR5_chr12_71898394_ENST00000540815_length(amino acids)=809AA_BP=
MNNISQLLPNPLPSLRFLEELRLAGNALTYIPKGAFTGLYSLKVLMLQNNQLRHVPTEALQNLRSLQSLRLDANHISYVPPSCFSGLHSL
RHLWLDDNALTEIPVQAFRSLSALQAMTLALNKIHHIPDYAFGNLSSLVVLHLHNNRIHSLGKKCFDGLHSLETLDLNYNNLDEFPTAIR
TLSNLKELHFYDNPIQFVGRSAFQHLPELRTLTLNGASQITEFPDLTGTANLESLTLTGAQISSLPQTVCNQLPNLQVLDLSYNLLEDLP
SFSVCQKLQKIDLRHNEIYEIKVDTFQQLLSLRSLNLAWNKIAIIHPNAFSTLPSLIKLDLSSNLLSSFPITGLHGLTHLKLTGNHALQS
LISSENFPELKVIEMPYAYQCCAFGVCENAYKISNQWNKGDNSSMDDLHKKDAGMFQAQDERDLEDFLLDFEEDLKALHSVQCSPSPGPF
KPCEHLLDGWLIRIGVWTIAVLALTCNALVTSTVFRSPLYISPIKLLIGVIAAVNMLTGVSSAVLAGVDAFTFGSFARHGAWWENGVGCH
VIGFLSIFASESSVFLLTLAALERGFSVKYSAKFETKAPFSSLKVIILLCALLALTMAAVPLLGGSKYGASPLCLPLPFGEPSTMGYMVA
LILLNSLCFLMMTIAYTKLYCNLDKGDLENIWDCSMVKHIALLLFTNCILNCPVAFLSFSSLINLTFISPEVIKFILLVVVPLPACLNPL

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:68690703/chr12:71898394)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MDM1

Q8TC05

LGR5

O75473

FUNCTION: Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392). {ECO:0000269|PubMed:26337392}.FUNCTION: Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Involved in the development and/or maintenance of the adult intestinal stem cells during postembryonic development. {ECO:0000269|PubMed:21693646, ECO:0000269|PubMed:21727895, ECO:0000269|PubMed:21909076, ECO:0000269|PubMed:22815884, ECO:0000269|PubMed:23809763}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018115_13670.66666666666667908.0RepeatNote=LRR 3
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018139_16070.66666666666667908.0RepeatNote=LRR 4
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018163_18470.66666666666667908.0RepeatNote=LRR 5
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018187_20870.66666666666667908.0RepeatNote=LRR 6
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018211_23270.66666666666667908.0RepeatNote=LRR 7
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018235_25670.66666666666667908.0RepeatNote=LRR 8
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018258_27970.66666666666667908.0RepeatNote=LRR 9
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018282_30370.66666666666667908.0RepeatNote=LRR 10
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018306_32870.66666666666667908.0RepeatNote=LRR 11
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018329_35070.66666666666667908.0RepeatNote=LRR 12
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018353_37470.66666666666667908.0RepeatNote=LRR 13
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018375_39670.66666666666667908.0RepeatNote=LRR 14
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018399_42070.66666666666667908.0RepeatNote=LRR 15
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018423_44670.66666666666667908.0RepeatNote=LRR 16
TgeneLGR5chr12:68690703chr12:71898394ENST0000026667401891_11270.66666666666667908.0RepeatNote=LRR 2
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017115_13670.66666666666667884.0RepeatNote=LRR 3
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017139_16070.66666666666667884.0RepeatNote=LRR 4
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017163_18470.66666666666667884.0RepeatNote=LRR 5
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017187_20870.66666666666667884.0RepeatNote=LRR 6
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017211_23270.66666666666667884.0RepeatNote=LRR 7
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017235_25670.66666666666667884.0RepeatNote=LRR 8
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017258_27970.66666666666667884.0RepeatNote=LRR 9
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017282_30370.66666666666667884.0RepeatNote=LRR 10
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017306_32870.66666666666667884.0RepeatNote=LRR 11
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017329_35070.66666666666667884.0RepeatNote=LRR 12
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017353_37470.66666666666667884.0RepeatNote=LRR 13
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017375_39670.66666666666667884.0RepeatNote=LRR 14
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017399_42070.66666666666667884.0RepeatNote=LRR 15
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017423_44670.66666666666667884.0RepeatNote=LRR 16
TgeneLGR5chr12:68690703chr12:71898394ENST0000054081501791_11270.66666666666667884.0RepeatNote=LRR 2
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018583_59370.66666666666667908.0Topological domainCytoplasmic
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018615_63870.66666666666667908.0Topological domainExtracellular
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018660_68270.66666666666667908.0Topological domainCytoplasmic
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018704_72270.66666666666667908.0Topological domainExtracellular
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018744_76770.66666666666667908.0Topological domainCytoplasmic
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018789_80270.66666666666667908.0Topological domainExtracellular
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018824_90770.66666666666667908.0Topological domainCytoplasmic
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017583_59370.66666666666667884.0Topological domainCytoplasmic
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017615_63870.66666666666667884.0Topological domainExtracellular
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017660_68270.66666666666667884.0Topological domainCytoplasmic
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017704_72270.66666666666667884.0Topological domainExtracellular
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017744_76770.66666666666667884.0Topological domainCytoplasmic
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017789_80270.66666666666667884.0Topological domainExtracellular
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017824_90770.66666666666667884.0Topological domainCytoplasmic
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018562_58270.66666666666667908.0TransmembraneHelical%3B Name%3D1
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018594_61470.66666666666667908.0TransmembraneHelical%3B Name%3D2
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018639_65970.66666666666667908.0TransmembraneHelical%3B Name%3D3
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018683_70370.66666666666667908.0TransmembraneHelical%3B Name%3D4
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018723_74370.66666666666667908.0TransmembraneHelical%3B Name%3D5
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018768_78870.66666666666667908.0TransmembraneHelical%3B Name%3D6
TgeneLGR5chr12:68690703chr12:71898394ENST00000266674018803_82370.66666666666667908.0TransmembraneHelical%3B Name%3D7
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017562_58270.66666666666667884.0TransmembraneHelical%3B Name%3D1
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017594_61470.66666666666667884.0TransmembraneHelical%3B Name%3D2
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017639_65970.66666666666667884.0TransmembraneHelical%3B Name%3D3
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017683_70370.66666666666667884.0TransmembraneHelical%3B Name%3D4
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017723_74370.66666666666667884.0TransmembraneHelical%3B Name%3D5
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017768_78870.66666666666667884.0TransmembraneHelical%3B Name%3D6
TgeneLGR5chr12:68690703chr12:71898394ENST00000540815017803_82370.66666666666667884.0TransmembraneHelical%3B Name%3D7

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneLGR5chr12:68690703chr12:71898394ENST0000026667401825_6670.66666666666667908.0DomainNote=LRRNT
TgeneLGR5chr12:68690703chr12:71898394ENST0000054081501725_6670.66666666666667884.0DomainNote=LRRNT
TgeneLGR5chr12:68690703chr12:71898394ENST0000026667401867_9070.66666666666667908.0RepeatNote=LRR 1
TgeneLGR5chr12:68690703chr12:71898394ENST0000054081501767_9070.66666666666667884.0RepeatNote=LRR 1
TgeneLGR5chr12:68690703chr12:71898394ENST0000026667401822_56170.66666666666667908.0Topological domainExtracellular
TgeneLGR5chr12:68690703chr12:71898394ENST0000054081501722_56170.66666666666667884.0Topological domainExtracellular


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MDM1
LGR5all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to MDM1-LGR5


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to MDM1-LGR5


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneLGR5C0007102Malignant tumor of colon1CTD_human
TgeneLGR5C0009375Colonic Neoplasms1CTD_human
TgeneLGR5C0009402Colorectal Carcinoma1CTD_human
TgeneLGR5C0009404Colorectal Neoplasms1CTD_human