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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:LTBP3-LTBP3 (FusionGDB2 ID:50039)

Fusion Gene Summary for LTBP3-LTBP3

check button Fusion gene summary
Fusion gene informationFusion gene name: LTBP3-LTBP3
Fusion gene ID: 50039
HgeneTgene
Gene symbol

LTBP3

LTBP3

Gene ID

4054

4054

Gene namelatent transforming growth factor beta binding protein 3latent transforming growth factor beta binding protein 3
SynonymsDASS|GPHYSD3|LTBP-3|LTBP2|STHAG6|pp6425DASS|GPHYSD3|LTBP-3|LTBP2|STHAG6|pp6425
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionlatent-transforming growth factor beta-binding protein 3latent TGF beta binding protein 3latent-transforming growth factor beta-binding protein 3latent TGF beta binding protein 3
Modification date2020032220200322
UniProtAcc.

Q9NS15

Ensembl transtripts involved in fusion geneENST00000322147, ENST00000301873, 
ENST00000530785, ENST00000529189, 
ENST00000532932, ENST00000536982, 
ENST00000322147, ENST00000301873, 
ENST00000530785, ENST00000529189, 
ENST00000532932, ENST00000536982, 
Fusion gene scores* DoF score9 X 12 X 4=4326 X 6 X 3=108
# samples 126
** MAII scorelog2(12/432*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LTBP3 [Title/Abstract] AND LTBP3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLTBP3(65310587)-LTBP3(65318898), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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

check buttonFusion gene breakpoints across LTBP3 (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 LTBP3 (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
ChiTaRS5.0N/AAA368933LTBP3chr11

65310587

-LTBP3chr11

65318898

+


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Fusion Gene ORF analysis for LTBP3-LTBP3

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-3CDSENST00000322147ENST00000322147LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000322147ENST00000301873LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000322147ENST00000530785LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000322147ENST00000529189LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000322147ENST00000532932LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000322147ENST00000536982LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000301873ENST00000322147LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000301873ENST00000301873LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000301873ENST00000530785LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000301873ENST00000529189LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000301873ENST00000532932LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000301873ENST00000536982LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000530785ENST00000322147LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000530785ENST00000301873LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000530785ENST00000530785LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000530785ENST00000529189LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000530785ENST00000532932LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000530785ENST00000536982LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000529189ENST00000322147LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000529189ENST00000301873LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000529189ENST00000530785LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000529189ENST00000529189LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000529189ENST00000532932LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000529189ENST00000536982LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000532932ENST00000322147LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000532932ENST00000301873LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000532932ENST00000530785LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000532932ENST00000529189LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000532932ENST00000532932LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000532932ENST00000536982LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000536982ENST00000322147LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-3CDSENST00000536982ENST00000301873LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000536982ENST00000530785LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000536982ENST00000529189LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000536982ENST00000532932LTBP3chr11

65310587

-LTBP3chr11

65318898

+
intron-intronENST00000536982ENST00000536982LTBP3chr11

65310587

-LTBP3chr11

65318898

+

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 LTBP3-LTBP3


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 LTBP3-LTBP3


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
.LTBP3

Q9NS15

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.FUNCTION: Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta. {ECO:0000303|PubMed:10743502, ECO:0000303|PubMed:11104663}.

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 LTBP3-LTBP3


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 LTBP3-LTBP3


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 LTBP3-LTBP3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for LTBP3-LTBP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLTBP3C0002452Amelogenesis Imperfecta2CTD_human;GENOMICS_ENGLAND
HgeneLTBP3C0018273Growth Disorders2CTD_human
HgeneLTBP3C0020608Hypodontia2CTD_human
HgeneLTBP3C0029408Degenerative polyarthritis2CTD_human
HgeneLTBP3C0029464Osteosclerosis2CTD_human
HgeneLTBP3C0086743Osteoarthrosis Deformans2CTD_human
HgeneLTBP3C0376634Craniofacial Abnormalities2CTD_human
HgeneLTBP3C0399352Developmental absence of tooth2CTD_human
HgeneLTBP3C1832594Verloes Bourguignon syndrome2GENOMICS_ENGLAND;ORPHANET
HgeneLTBP3C3489529Tooth Agenesis, Familial2CTD_human
HgeneLTBP3C0005940Bone Diseases1CTD_human
HgeneLTBP3C0022821Kyphosis deformity of spine1CTD_human
HgeneLTBP3C0026267Mitral Valve Prolapse Syndrome1CTD_human
HgeneLTBP3C0029410Osteoarthritis of hip1CTD_human
HgeneLTBP3C0265287Acromicric Dysplasia1ORPHANET
HgeneLTBP3C0432228Brachyolmia1CTD_human
HgeneLTBP3C3489726Geleophysic dysplasia1ORPHANET
HgeneLTBP3C4540511GELEOPHYSIC DYSPLASIA 31GENOMICS_ENGLAND;UNIPROT
TgeneLTBP3C0002452Amelogenesis Imperfecta2CTD_human;GENOMICS_ENGLAND
TgeneLTBP3C0018273Growth Disorders2CTD_human
TgeneLTBP3C0020608Hypodontia2CTD_human
TgeneLTBP3C0029408Degenerative polyarthritis2CTD_human
TgeneLTBP3C0029464Osteosclerosis2CTD_human
TgeneLTBP3C0086743Osteoarthrosis Deformans2CTD_human
TgeneLTBP3C0376634Craniofacial Abnormalities2CTD_human
TgeneLTBP3C0399352Developmental absence of tooth2CTD_human
TgeneLTBP3C1832594Verloes Bourguignon syndrome2GENOMICS_ENGLAND;ORPHANET
TgeneLTBP3C3489529Tooth Agenesis, Familial2CTD_human
TgeneLTBP3C0005940Bone Diseases1CTD_human
TgeneLTBP3C0022821Kyphosis deformity of spine1CTD_human
TgeneLTBP3C0026267Mitral Valve Prolapse Syndrome1CTD_human
TgeneLTBP3C0029410Osteoarthritis of hip1CTD_human
TgeneLTBP3C0265287Acromicric Dysplasia1ORPHANET
TgeneLTBP3C0432228Brachyolmia1CTD_human
TgeneLTBP3C3489726Geleophysic dysplasia1ORPHANET
TgeneLTBP3C4540511GELEOPHYSIC DYSPLASIA 31GENOMICS_ENGLAND;UNIPROT