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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:FMNL2-TNFAIP3 (FusionGDB2 ID:HG114793TG7128)

Fusion Gene Summary for FMNL2-TNFAIP3

check button Fusion gene summary
Fusion gene informationFusion gene name: FMNL2-TNFAIP3
Fusion gene ID: hg114793tg7128
HgeneTgene
Gene symbol

FMNL2

TNFAIP3

Gene ID

114793

7128

Gene nameformin like 2TNF alpha induced protein 3
SynonymsFHOD2A20|AISBL|OTUD7C|TNFA1P2
Cytomap('FMNL2')('TNFAIP3')

2q23.3

6q23.3

Type of geneprotein-codingprotein-coding
Descriptionformin-like protein 2formin homology 2 domain containing 2formin homology 2 domain-containing protein 2tumor necrosis factor alpha-induced protein 3OTU domain-containing protein 7Cputative DNA-binding protein A20tumor necrosis factor inducible protein A20tumor necrosis factor, alpha induced protein 3zinc finger protein A20
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000288670, ENST00000475377, 
ENST00000497192, 
Fusion gene scores* DoF score14 X 14 X 5=9809 X 8 X 5=360
# samples 179
** MAII scorelog2(17/980*10)=-2.52724700286487
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FMNL2 [Title/Abstract] AND TNFAIP3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFMNL2(153192234)-TNFAIP3(138192349), # 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
TgeneTNFAIP3

GO:0002237

response to molecule of bacterial origin

19912257

TgeneTNFAIP3

GO:0031397

negative regulation of protein ubiquitination

20392859

TgeneTNFAIP3

GO:0032088

negative regulation of NF-kappaB transcription factor activity

18223652

TgeneTNFAIP3

GO:0034140

negative regulation of toll-like receptor 3 signaling pathway

15474016

TgeneTNFAIP3

GO:0035871

protein K11-linked deubiquitination

23827681

TgeneTNFAIP3

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

11463333|15258597|21127049

TgeneTNFAIP3

GO:0045732

positive regulation of protein catabolic process

21127049

TgeneTNFAIP3

GO:0048662

negative regulation of smooth muscle cell proliferation

16816117

TgeneTNFAIP3

GO:0070536

protein K63-linked deubiquitination

15258597

TgeneTNFAIP3

GO:0070936

protein K48-linked ubiquitination

15258597

TgeneTNFAIP3

GO:0071108

protein K48-linked deubiquitination

23827681

TgeneTNFAIP3

GO:0071222

cellular response to lipopolysaccharide

19912257|21127049|21220427

TgeneTNFAIP3

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

12167698

TgeneTNFAIP3

GO:2000352

negative regulation of endothelial cell apoptotic process

12885753



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
ChimerDB4Non-Cancer257NFMNL2chr2

153192234

+TNFAIP3chr6

138192349

+


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Fusion Gene ORF analysis for FMNL2-TNFAIP3

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
5CDS-5UTRENST00000288670ENST00000237289FMNL2chr2

153192234

+TNFAIP3chr6

138192349

+
5CDS-intronENST00000288670ENST00000485192FMNL2chr2

153192234

+TNFAIP3chr6

138192349

+
intron-5UTRENST00000475377ENST00000237289FMNL2chr2

153192234

+TNFAIP3chr6

138192349

+
intron-5UTRENST00000497192ENST00000237289FMNL2chr2

153192234

+TNFAIP3chr6

138192349

+
intron-intronENST00000475377ENST00000485192FMNL2chr2

153192234

+TNFAIP3chr6

138192349

+
intron-intronENST00000497192ENST00000485192FMNL2chr2

153192234

+TNFAIP3chr6

138192349

+

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 FMNL2-TNFAIP3


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)
FMNL2chr2153192234+TNFAIP3chr6138192349+4.32E-070.9999995
FMNL2chr2153192234+TNFAIP3chr6138192349+4.32E-070.9999995


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 FMNL2-TNFAIP3


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/:153192234/:138192349)
- 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 FMNL2-TNFAIP3


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 FMNL2-TNFAIP3


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 FMNL2-TNFAIP3


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 FMNL2-TNFAIP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0024141Lupus Erythematosus, Systemic9CTD_human;ORPHANET
TgeneC0003873Rheumatoid Arthritis5CTD_human
TgeneC0242380Libman-Sacks Disease4CTD_human
TgeneC4225218AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0030246Pustulosis of Palms and Soles2CTD_human
TgeneC0033860Psoriasis2CTD_human
TgeneC0086981Sicca Syndrome2CTD_human
TgeneC1527336Sjogren's Syndrome2CTD_human
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0024301Lymphoma, Follicular1CTD_human
TgeneC0026769Multiple Sclerosis1CTD_human
TgeneC0079745Lymphoma, Large-Cell, Follicular1CTD_human
TgeneC0079758Lymphoma, Mixed-Cell, Follicular1CTD_human
TgeneC0079765Lymphoma, Small Cleaved-Cell, Follicular1CTD_human
TgeneC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneC0376407Granulomatous Slack Skin1CTD_human
TgeneC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
TgeneC0751422Hereditary Autoinflammatory Diseases1CTD_human
TgeneC1328840Autoimmune Lymphoproliferative Syndrome1GENOMICS_ENGLAND
TgeneC1956130Lymphoma, Follicular, Grade 11CTD_human
TgeneC1956131Lymphoma, Follicular, Grade 31CTD_human
TgeneC1956132Lymphoma, Follicular, Grade 21CTD_human
TgeneC3860213Autoinflammatory disorder1GENOMICS_ENGLAND