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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:ITGB1-WDFY4 (FusionGDB2 ID:HG3688TG57705)

Fusion Gene Summary for ITGB1-WDFY4

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGB1-WDFY4
Fusion gene ID: hg3688tg57705
HgeneTgene
Gene symbol

ITGB1

WDFY4

Gene ID

3688

57705

Gene nameintegrin subunit beta 1WDFY family member 4
SynonymsCD29|FNRB|GPIIA|MDF2|MSK12|VLA-BETA|VLABC10orf64
Cytomap('ITGB1')('WDFY4')

10p11.22

10q11.23

Type of geneprotein-codingprotein-coding
Descriptionintegrin beta-1glycoprotein IIaintegrin VLA-4 beta subunitintegrin beta 1integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)very late activation protein, beta polypeptideWD repeat- and FYVE domain-containing protein 4truncated WD repeat- and FYVE domain-containing protein 4
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000302278, ENST00000374956, 
ENST00000484088, ENST00000396033, 
ENST00000423113, 
Fusion gene scores* DoF score10 X 7 X 8=5604 X 4 X 4=64
# samples 114
** MAII scorelog2(11/560*10)=-2.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITGB1 [Title/Abstract] AND WDFY4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITGB1(33247073)-WDFY4(50105499), # 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
HgeneITGB1

GO:0007155

cell adhesion

19703720

HgeneITGB1

GO:0007159

leukocyte cell-cell adhesion

1715889

HgeneITGB1

GO:0007229

integrin-mediated signaling pathway

31331973

HgeneITGB1

GO:0010710

regulation of collagen catabolic process

10455171

HgeneITGB1

GO:0010763

positive regulation of fibroblast migration

26763945

HgeneITGB1

GO:0023035

CD40 signaling pathway

31331973

HgeneITGB1

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

HgeneITGB1

GO:0051897

positive regulation of protein kinase B signaling

24044949

HgeneITGB1

GO:0090303

positive regulation of wound healing

26763945

HgeneITGB1

GO:1903078

positive regulation of protein localization to plasma membrane

10455171

HgeneITGB1

GO:2000273

positive regulation of signaling receptor activity

24044949



check button Fusion gene information
* 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
ChimerDB4PRADTCGA-EJ-7321-01AITGB1chr10

33247073

-WDFY4chr10

50105499

+


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Fusion Gene ORF analysis for ITGB1-WDFY4

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
5UTR-3UTRENST00000302278ENST00000325239ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-3UTRENST00000302278ENST00000413659ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-3UTRENST00000374956ENST00000325239ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-3UTRENST00000374956ENST00000413659ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-3UTRENST00000484088ENST00000325239ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-3UTRENST00000484088ENST00000413659ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-intronENST00000302278ENST00000360890ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-intronENST00000302278ENST00000465910ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-intronENST00000374956ENST00000360890ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-intronENST00000374956ENST00000465910ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-intronENST00000484088ENST00000360890ITGB1chr10

33247073

-WDFY4chr10

50105499

+
5UTR-intronENST00000484088ENST00000465910ITGB1chr10

33247073

-WDFY4chr10

50105499

+
intron-3UTRENST00000396033ENST00000325239ITGB1chr10

33247073

-WDFY4chr10

50105499

+
intron-3UTRENST00000396033ENST00000413659ITGB1chr10

33247073

-WDFY4chr10

50105499

+
intron-3UTRENST00000423113ENST00000325239ITGB1chr10

33247073

-WDFY4chr10

50105499

+
intron-3UTRENST00000423113ENST00000413659ITGB1chr10

33247073

-WDFY4chr10

50105499

+
intron-intronENST00000396033ENST00000360890ITGB1chr10

33247073

-WDFY4chr10

50105499

+
intron-intronENST00000396033ENST00000465910ITGB1chr10

33247073

-WDFY4chr10

50105499

+
intron-intronENST00000423113ENST00000360890ITGB1chr10

33247073

-WDFY4chr10

50105499

+
intron-intronENST00000423113ENST00000465910ITGB1chr10

33247073

-WDFY4chr10

50105499

+

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 ITGB1-WDFY4


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)
ITGB1chr1033247072-WDFY4chr1050105498+1.03E-070.9999999
ITGB1chr1033247072-WDFY4chr1050105498+1.03E-070.9999999


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.
genomic feature of top 1%

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Fusion Protein Features for ITGB1-WDFY4


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/:33247073/:50105499)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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 ITGB1-WDFY4


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 ITGB1-WDFY4


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 ITGB1-WDFY4


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 ITGB1-WDFY4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGB1C0006663Calcinosis1CTD_human
HgeneITGB1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneITGB1C0007137Squamous cell carcinoma1CTD_human
HgeneITGB1C0007193Cardiomyopathy, Dilated1CTD_human
HgeneITGB1C0014175Endometriosis1CTD_human
HgeneITGB1C0017639Gliosis1CTD_human
HgeneITGB1C0018801Heart failure1CTD_human
HgeneITGB1C0018802Congestive heart failure1CTD_human
HgeneITGB1C0023212Left-Sided Heart Failure1CTD_human
HgeneITGB1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneITGB1C0027626Neoplasm Invasiveness1CTD_human
HgeneITGB1C0027627Neoplasm Metastasis1CTD_human
HgeneITGB1C0033141Cardiomyopathies, Primary1CTD_human
HgeneITGB1C0036529Myocardial Diseases, Secondary1CTD_human
HgeneITGB1C0235527Heart Failure, Right-Sided1CTD_human
HgeneITGB1C0263628Tumoral calcinosis1CTD_human
HgeneITGB1C0269102Endometrioma1CTD_human
HgeneITGB1C0521174Microcalcification1CTD_human
HgeneITGB1C0878544Cardiomyopathies1CTD_human
HgeneITGB1C1449563Cardiomyopathy, Familial Idiopathic1CTD_human
HgeneITGB1C1959583Myocardial Failure1CTD_human
HgeneITGB1C1961112Heart Decompensation1CTD_human
HgeneITGB1C3887640Astrocytosis1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0008073Developmental Disabilities1CTD_human
TgeneC0085996Child Development Deviations1CTD_human
TgeneC0085997Child Development Disorders, Specific1CTD_human