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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:ITGB3-FMN1 (FusionGDB2 ID:40527)

Fusion Gene Summary for ITGB3-FMN1

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGB3-FMN1
Fusion gene ID: 40527
HgeneTgene
Gene symbol

ITGB3

FMN1

Gene ID

3690

342184

Gene nameintegrin subunit beta 3formin 1
SynonymsBDPLT16|BDPLT2|CD61|GP3A|GPIIIa|GTFMN|LD
Cytomap

17q21.32

15q13.3

Type of geneprotein-codingprotein-coding
Descriptionintegrin beta-3antigen CD61integrin beta 3integrin beta chain, beta 3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)platelet membrane glycoprotein IIIaformin-1formin (limb deformity)limb deformity protein homolog
Modification date2020032920200313
UniProtAcc

P05106

Q68DA7

Ensembl transtripts involved in fusion geneENST00000435993, ENST00000559488, 
ENST00000560629, ENST00000571680, 
ENST00000334528, ENST00000320930, 
ENST00000558197, ENST00000559047, 
ENST00000559150, ENST00000561249, 
Fusion gene scores* DoF score3 X 2 X 2=129 X 8 X 4=288
# samples 49
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITGB3 [Title/Abstract] AND FMN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITGB3(45390029)-FMN1(33063571), # 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
HgeneITGB3

GO:0033627

cell adhesion mediated by integrin

12807887

HgeneITGB3

GO:0034446

substrate adhesion-dependent cell spreading

24658351

HgeneITGB3

GO:0099149

regulation of postsynaptic neurotransmitter receptor internalization

18549786


check buttonFusion gene breakpoints across ITGB3 (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 FMN1 (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/ABC015906ITGB3chr17

45390029

+FMN1chr15

33063571

-


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Fusion Gene ORF analysis for ITGB3-FMN1

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-3UTRENST00000435993ENST00000334528ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-3UTRENST00000559488ENST00000334528ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-3UTRENST00000560629ENST00000334528ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-3UTRENST00000571680ENST00000334528ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000435993ENST00000320930ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000435993ENST00000558197ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000435993ENST00000559047ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000435993ENST00000559150ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000435993ENST00000561249ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000559488ENST00000320930ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000559488ENST00000558197ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000559488ENST00000559047ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000559488ENST00000559150ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000559488ENST00000561249ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000560629ENST00000320930ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000560629ENST00000558197ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000560629ENST00000559047ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000560629ENST00000559150ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000560629ENST00000561249ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000571680ENST00000320930ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000571680ENST00000558197ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000571680ENST00000559047ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000571680ENST00000559150ITGB3chr17

45390029

+FMN1chr15

33063571

-
intron-intronENST00000571680ENST00000561249ITGB3chr17

45390029

+FMN1chr15

33063571

-

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 ITGB3-FMN1


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 ITGB3-FMN1


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/:45390029/:33063571)
- 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
ITGB3

P05106

FMN1

Q68DA7

FUNCTION: Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. Fibrinogen binding enhances SELP expression in activated platelets (By similarity). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and acts as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887). In brain, plays a role in synaptic transmission and plasticity. Involved in the regulation of the serotonin neurotransmission, is required to localize to specific compartments within the synapse the serotonin receptor SLC6A4 and for an appropriate reuptake of serotonin. Controls excitatory synaptic strength by regulating GRIA2-containing AMPAR endocytosis, which affects AMPAR abundance and composition (By similarity). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973). {ECO:0000250|UniProtKB:O54890, ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:18441324, ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:19578119, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:24789099, ECO:0000269|PubMed:25398877, ECO:0000269|PubMed:28302677, ECO:0000269|PubMed:28873464, ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:31331973, ECO:0000269|PubMed:9195946, ECO:0000303|PubMed:16322781, ECO:0000303|PubMed:17635696}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8. {ECO:0000269|PubMed:18045938}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Coxsackievirus A9. {ECO:0000269|PubMed:7519807}.; FUNCTION: (Microbial infection) Acts as a receptor for Hantaan virus. {ECO:0000269|PubMed:9618541}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Cytomegalovirus/HHV-5. {ECO:0000269|PubMed:15834425}.; FUNCTION: (Microbial infection) Integrin ITGA5:ITGB3 acts as a receptor for Human metapneumovirus. {ECO:0000269|PubMed:24478423}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts aP05556s a receptor for Human parechovirus 1. {ECO:0000269|PubMed:11160695}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus. {ECO:0000269|PubMed:23658209}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions. {ECO:0000269|PubMed:10397733}.FUNCTION: Plays a role in the formation of adherens junction and the polymerization of linear actin cables. {ECO:0000250}.

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 ITGB3-FMN1


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 ITGB3-FMN1


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 ITGB3-FMN1


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 ITGB3-FMN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource