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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:LRP1-XPO5 (FusionGDB2 ID:49477)

Fusion Gene Summary for LRP1-XPO5

check button Fusion gene summary
Fusion gene informationFusion gene name: LRP1-XPO5
Fusion gene ID: 49477
HgeneTgene
Gene symbol

LRP1

XPO5

Gene ID

10438

57510

Gene nameC1D nuclear receptor corepressorexportin 5
SynonymsLRP1|Rrp47|SUN-CoR|SUNCOR|hC1Dexp5
Cytomap

2p14

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear nucleic acid-binding protein C1DC1D DNA-binding proteinC1D nuclear receptor co-repressornuclear DNA-binding proteinsmall unique nuclear receptor co-repressorsmall unique nuclear receptor corepressorexportin-5ran-binding protein 21
Modification date2020031320200313
UniProtAcc

Q07954

.
Ensembl transtripts involved in fusion geneENST00000553277, ENST00000243077, 
ENST00000338962, ENST00000554174, 
ENST00000553446, 		ENST00000265351, 
ENST00000424378, 
Fusion gene scores* DoF score23 X 27 X 12=74523 X 4 X 3=36
# samples 263
** MAII scorelog2(26/7452*10)=-4.84104414591318
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRP1 [Title/Abstract] AND XPO5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLRP1(57539273)-XPO5(43530083), # samples:4
Anticipated loss of major functional domain due to fusion event.LRP1-XPO5 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
LRP1-XPO5 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
TgeneXPO5

GO:0006611

protein export from nucleus

11777942|24209753

TgeneXPO5

GO:0035281

pre-miRNA export from nucleus

15613540

TgeneXPO5

GO:1900370

positive regulation of RNA interference

15613540


check buttonFusion gene breakpoints across LRP1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across XPO5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4GBMTCGA-06-0686-01ALRP1chr12

57539273

+XPO5chr6

43530083

-
ChimerDB4GBMTCGA-06-0686LRP1chr12

57539273

+XPO5chr6

43530083

-
ChimerDB4GBMTCGA-06-0686-01ALRP1chr12

57539273

+XPO5chr6

43530083

-
ChimerDB4GBMTCGA-06-0686-01ALRP1chr12

57539273

+XPO5chr6

43528744

-
ChimerDB4GBMTCGA-06-0686-01ALRP1chr12

57539273

-XPO5chr6

43530083

-


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Fusion Gene ORF analysis for LRP1-XPO5

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-shiftENST00000553277ENST00000265351LRP1chr12

57539273

+XPO5chr6

43530083

-
5CDS-intronENST00000553277ENST00000424378LRP1chr12

57539273

+XPO5chr6

43530083

-
Frame-shiftENST00000243077ENST00000265351LRP1chr12

57539273

+XPO5chr6

43530083

-
5CDS-intronENST00000243077ENST00000424378LRP1chr12

57539273

+XPO5chr6

43530083

-
Frame-shiftENST00000338962ENST00000265351LRP1chr12

57539273

+XPO5chr6

43530083

-
5CDS-intronENST00000338962ENST00000424378LRP1chr12

57539273

+XPO5chr6

43530083

-
Frame-shiftENST00000554174ENST00000265351LRP1chr12

57539273

+XPO5chr6

43530083

-
5CDS-intronENST00000554174ENST00000424378LRP1chr12

57539273

+XPO5chr6

43530083

-
intron-3CDSENST00000553446ENST00000265351LRP1chr12

57539273

+XPO5chr6

43530083

-
intron-intronENST00000553446ENST00000424378LRP1chr12

57539273

+XPO5chr6

43530083

-
Frame-shiftENST00000553277ENST00000265351LRP1chr12

57539273

+XPO5chr6

43528744

-
5CDS-intronENST00000553277ENST00000424378LRP1chr12

57539273

+XPO5chr6

43528744

-
Frame-shiftENST00000243077ENST00000265351LRP1chr12

57539273

+XPO5chr6

43528744

-
5CDS-intronENST00000243077ENST00000424378LRP1chr12

57539273

+XPO5chr6

43528744

-
Frame-shiftENST00000338962ENST00000265351LRP1chr12

57539273

+XPO5chr6

43528744

-
5CDS-intronENST00000338962ENST00000424378LRP1chr12

57539273

+XPO5chr6

43528744

-
Frame-shiftENST00000554174ENST00000265351LRP1chr12

57539273

+XPO5chr6

43528744

-
5CDS-intronENST00000554174ENST00000424378LRP1chr12

57539273

+XPO5chr6

43528744

-
intron-3CDSENST00000553446ENST00000265351LRP1chr12

57539273

+XPO5chr6

43528744

-
intron-intronENST00000553446ENST00000424378LRP1chr12

57539273

+XPO5chr6

43528744

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for LRP1-XPO5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for LRP1-XPO5


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LRP1

Q07954

.
FUNCTION: Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells (PubMed:11907044, PubMed:12713657). Required for early embryonic development (By similarity). Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. Acts as an LRPAP1 alpha-2-macroglobulin receptor (PubMed:26142438, PubMed:1702392). Acts as TAU/MAPT receptor and controls the endocytosis of TAU/MAPT as well as its subsequent spread (PubMed:32296178). May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (PubMed:12888553). {ECO:0000250|UniProtKB:Q91ZX7, ECO:0000269|PubMed:11907044, ECO:0000269|PubMed:12713657, ECO:0000269|PubMed:12888553, ECO:0000269|PubMed:1702392, ECO:0000269|PubMed:26142438, ECO:0000269|PubMed:32296178}.; FUNCTION: (Microbial infection) Functions as a receptor for Pseudomonas aeruginosa exotoxin A. {ECO:0000269|PubMed:1618748}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for LRP1-XPO5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for LRP1-XPO5


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


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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Related Drugs for LRP1-XPO5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneLRP1Q07954DB00031TenecteplaseBiotechApproved
HgeneLRP1Q07954DB00031TenecteplaseBiotechApproved
HgeneLRP1Q07954DB00031TenecteplaseBiotechApproved
HgeneLRP1Q07954DB13152Coagulation Factor IX HumanBiotechApproved
HgeneLRP1Q07954DB13152Coagulation Factor IX HumanBiotechApproved
HgeneLRP1Q07954DB13152Coagulation Factor IX HumanBiotechApproved
HgeneLRP1Q07954DB13999Moroctocog alfaModulatorBiotechApproved
HgeneLRP1Q07954DB13999Moroctocog alfaModulatorBiotechApproved
HgeneLRP1Q07954DB13999Moroctocog alfaModulatorBiotechApproved
HgeneLRP1Q07954DB00025Antihemophilic factor, human recombinantModulatorBiotechApproved|Investigational
HgeneLRP1Q07954DB00025Antihemophilic factor, human recombinantModulatorBiotechApproved|Investigational
HgeneLRP1Q07954DB00025Antihemophilic factor, human recombinantModulatorBiotechApproved|Investigational
HgeneLRP1Q07954DB00100Coagulation Factor IX (Recombinant)BiotechApproved|Investigational
HgeneLRP1Q07954DB00100Coagulation Factor IX (Recombinant)BiotechApproved|Investigational
HgeneLRP1Q07954DB00100Coagulation Factor IX (Recombinant)BiotechApproved|Investigational
HgeneLRP1Q07954DB13998Lonoctocog alfaModulatorBiotechApproved|Investigational
HgeneLRP1Q07954DB13998Lonoctocog alfaModulatorBiotechApproved|Investigational
HgeneLRP1Q07954DB13998Lonoctocog alfaModulatorBiotechApproved|Investigational

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Related Diseases for LRP1-XPO5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLRP1C0007852Cervical Migraine Syndrome1CTD_human
HgeneLRP1C0018984Hemicrania migraine1CTD_human
HgeneLRP1C0036341Schizophrenia1CTD_human
HgeneLRP1C0041696Unipolar Depression1PSYGENET
HgeneLRP1C0149931Migraine Disorders1CTD_human
HgeneLRP1C0263428Burnett Schwartz Berberian syndrome1CTD_human;UNIPROT
HgeneLRP1C0263429Atrophoderma vermiculatum1ORPHANET
HgeneLRP1C0270858Abdominal Migraine1CTD_human
HgeneLRP1C0338480Common Migraine1CTD_human
HgeneLRP1C0338489Status Migrainosus1CTD_human
HgeneLRP1C0343057Keratosis pilaris decalvans1ORPHANET
HgeneLRP1C0521664Acute Confusional Migraine1CTD_human
HgeneLRP1C0700438Sick Headaches1CTD_human
HgeneLRP1C1269683Major Depressive Disorder1PSYGENET
TgeneXPO5C0023176Lead Poisoning1CTD_human
TgeneXPO5C0027708Nephroblastoma1CTD_human
TgeneXPO5C0027726Nephrotic Syndrome1GENOMICS_ENGLAND
TgeneXPO5C0920269Microsatellite Instability1CTD_human
TgeneXPO5C1721098Replication Error Phenotype1CTD_human
TgeneXPO5C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1CTD_human
TgeneXPO5C2930471Bilateral Wilms Tumor1CTD_human