UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:LRP5-CCND1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: LRP5-CCND1
FusionPDB ID: 49787
FusionGDB2.0 ID: 49787
HgeneTgene
Gene symbol

LRP5

CCND1

Gene ID

4041

595

Gene nameLDL receptor related protein 5cyclin D1
SynonymsBMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP-7|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2BCL1|D11S287E|PRAD1|U21B31
Cytomap

11q13.2

11q13.3

Type of geneprotein-codingprotein-coding
Descriptionlow-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7G1/S-specific cyclin-D1B-cell CLL/lymphoma 1B-cell lymphoma 1 proteinBCL-1 oncogenePRAD1 oncogene
Modification date2020032920200327
UniProtAcc

A4QPB2

P24385

Ensembl transtripts involved in fusion geneENST idsENST00000294304, ENST00000529481, 
ENST00000536559, ENST00000227507, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score36 X 25 X 12=1080015 X 16 X 5=1200
# samples 4116
** MAII scorelog2(41/10800*10)=-4.71926359243275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1200*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: LRP5 [Title/Abstract] AND CCND1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)LRP5(68171167)-CCND1(69462761), # samples:1
Anticipated loss of major functional domain due to fusion event.LRP5-CCND1 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.
LRP5-CCND1 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.
LRP5-CCND1 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.
LRP5-CCND1 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.
LRP5-CCND1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
LRP5-CCND1 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
HgeneLRP5

GO:0008284

positive regulation of cell proliferation

9790987

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

11029007|12121999|12857724|15908424|24706814|25920554

TgeneCCND1

GO:0000082

G1/S transition of mitotic cell cycle

19412162

TgeneCCND1

GO:0000122

negative regulation of transcription by RNA polymerase II

16569215|18417529

TgeneCCND1

GO:0001934

positive regulation of protein phosphorylation

8114739

TgeneCCND1

GO:0006974

cellular response to DNA damage stimulus

19412162

TgeneCCND1

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

19124461

TgeneCCND1

GO:0031571

mitotic G1 DNA damage checkpoint

19412162

TgeneCCND1

GO:0044321

response to leptin

17344214

TgeneCCND1

GO:0045737

positive regulation of cyclin-dependent protein serine/threonine kinase activity

8114739

TgeneCCND1

GO:0070141

response to UV-A

18483258

TgeneCCND1

GO:0071157

negative regulation of cell cycle arrest

19124461


check buttonFusion gene breakpoints across LRP5 (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 CCND1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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
ChimerDB4STADTCGA-HU-8602LRP5chr11

68171167

+CCND1chr11

69462761

+


Top

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)
ENST00000294304LRP5chr1168171167+ENST00000227507CCND1chr1169462761+541319071062220704

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
ENST00000294304ENST00000227507LRP5chr1168171167+CCND1chr1169462761+0.0003275520.9996724

Top

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

>49787_49787_1_LRP5-CCND1_LRP5_chr11_68171167_ENST00000294304_CCND1_chr11_69462761_ENST00000227507_length(amino acids)=704AA_BP=74
MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKGAVYWTDVSEEAIKQT
YLNQTGAAVQNVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAG
MDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGK
RKEILSALYSPMDIQVLSQERQPFFHTRCEEDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTP
DFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSR
KILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTL
LEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVVDVKFISNPPSMVAAGSVVAAVQGLNLRSPN

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

Top

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/chr11:68171167/chr11:69462761)
- 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
LRP5

A4QPB2

CCND1

P24385

FUNCTION: Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Exhibits transcriptional corepressor activity with INSM1 on the NEUROD1 and INS promoters in a cell cycle-independent manner. {ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:16569215, ECO:0000269|PubMed:18417529, ECO:0000269|PubMed:9106657}.

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
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823295_337600.33333333333341616.0DomainNote=EGF-like 1
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+82332_288600.33333333333341616.0RegionNote=Beta-propeller 1
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823341_602600.33333333333341616.0RegionNote=Beta-propeller 2
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823120_162600.33333333333341616.0RepeatNote=LDL-receptor class B 2
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823123_126600.33333333333341616.0RepeatNote=YWTD 2
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823163_206600.33333333333341616.0RepeatNote=LDL-receptor class B 3
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823166_169600.33333333333341616.0RepeatNote=YWTD 3
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823207_247600.33333333333341616.0RepeatNote=LDL-receptor class B 4
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823248_290600.33333333333341616.0RepeatNote=LDL-receptor class B 5
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823251_254600.33333333333341616.0RepeatNote=YWTD 4
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823385_427600.33333333333341616.0RepeatNote=LDL-receptor class B 6
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823388_391600.33333333333341616.0RepeatNote=YWTD 5
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823428_470600.33333333333341616.0RepeatNote=LDL-receptor class B 7
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823431_434600.33333333333341616.0RepeatNote=YWTD 6
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823471_514600.33333333333341616.0RepeatNote=LDL-receptor class B 8
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823474_477600.33333333333341616.0RepeatNote=YWTD 7
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823515_557600.33333333333341616.0RepeatNote=LDL-receptor class B 9
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823558_600600.33333333333341616.0RepeatNote=LDL-receptor class B 10
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823559_562600.33333333333341616.0RepeatNote=YWTD 8
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+82375_119600.33333333333341616.0RepeatNote=LDL-receptor class B 1
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+82378_81600.33333333333341616.0RepeatNote=YWTD 1
TgeneCCND1chr11:68171167chr11:69462761ENST0000022750725272_280191.33333333333334296.0Compositional biasNote=Poly-Glu

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231495_1610600.33333333333341616.0Compositional biasNote=Pro-rich
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231213_1254600.33333333333341616.0DomainNote=EGF-like 4
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231258_1296600.33333333333341616.0DomainLDL-receptor class A 1
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231297_1333600.33333333333341616.0DomainLDL-receptor class A 2
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231335_1371600.33333333333341616.0DomainLDL-receptor class A 3
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823601_641600.33333333333341616.0DomainNote=EGF-like 2
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823902_942600.33333333333341616.0DomainNote=EGF-like 3
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231500_1506600.33333333333341616.0MotifNote=PPPSP motif A
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231538_1545600.33333333333341616.0MotifNote=PPPSP motif B
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231574_1581600.33333333333341616.0MotifNote=PPPSP motif C
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231591_1596600.33333333333341616.0MotifNote=PPPSP motif D
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231605_1612600.33333333333341616.0MotifNote=PPPSP motif E
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823644_903600.33333333333341616.0RegionNote=Beta-propeller 3
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823945_1212600.33333333333341616.0RegionNote=Beta-propeller 4
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231036_1078600.33333333333341616.0RepeatNote=LDL-receptor class B 17
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231079_1123600.33333333333341616.0RepeatNote=LDL-receptor class B 18
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231124_1164600.33333333333341616.0RepeatNote=LDL-receptor class B 19
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231165_1207600.33333333333341616.0RepeatNote=LDL-receptor class B 20
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823687_729600.33333333333341616.0RepeatNote=LDL-receptor class B 11
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823690_693600.33333333333341616.0RepeatNote=YWTD 9
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823730_772600.33333333333341616.0RepeatNote=LDL-receptor class B 12
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823773_815600.33333333333341616.0RepeatNote=LDL-receptor class B 13
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823816_855600.33333333333341616.0RepeatNote=LDL-receptor class B 14
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823819_822600.33333333333341616.0RepeatNote=YWTD 10
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823856_898600.33333333333341616.0RepeatNote=LDL-receptor class B 15
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823859_862600.33333333333341616.0RepeatNote=YWTD 11
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+823989_1035600.33333333333341616.0RepeatNote=LDL-receptor class B 16
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231408_1615600.33333333333341616.0Topological domainCytoplasmic
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+82332_1384600.33333333333341616.0Topological domainExtracellular
HgeneLRP5chr11:68171167chr11:69462761ENST00000294304+8231385_1407600.33333333333341616.0TransmembraneHelical
TgeneCCND1chr11:68171167chr11:69462761ENST000002275072528_152191.33333333333334296.0DomainNote=Cyclin N-terminal


Top

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
LRP5
CCND1


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


Top

Related Drugs to LRP5-CCND1


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

Top

Related Diseases to LRP5-CCND1


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