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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:FADS1-TGOLN2 (FusionGDB2 ID:28216)

Fusion Gene Summary for FADS1-TGOLN2

check button Fusion gene summary
Fusion gene informationFusion gene name: FADS1-TGOLN2
Fusion gene ID: 28216
HgeneTgene
Gene symbol

FADS1

TGOLN2

Gene ID

4593

10618

Gene namemuscle associated receptor tyrosine kinasetrans-golgi network protein 2
SynonymsCMS9|FADS|FADS1TGN38|TGN46|TGN48|TGN51|TTGN2|hTGN46|hTGN48|hTGN51
Cytomap

9q31.3

2p11.2

Type of geneprotein-codingprotein-coding
Descriptionmuscle, skeletal receptor tyrosine-protein kinasemuscle, skeletal, receptor tyrosine kinasemuscle-specific kinase receptormuscle-specific tyrosine-protein kinase receptortrans-Golgi network integral membrane protein 2TGN38 homologtrans-Golgi network glycoprotein 46trans-Golgi network glycoprotein 48trans-Golgi network glycoprotein 51trans-Golgi network protein (46, 48, 51kD isoforms)trans-Golgi network protein TGN51
Modification date2020031320200313
UniProtAcc

O60427

.
Ensembl transtripts involved in fusion geneENST00000350997, ENST00000433932, 
ENST00000460649, ENST00000536991, 
ENST00000541683, ENST00000542506, 
ENST00000282120, ENST00000377386, 
ENST00000398263, ENST00000409015, 
ENST00000409232, ENST00000444342, 
Fusion gene scores* DoF score7 X 8 X 2=1127 X 7 X 1=49
# samples 87
** MAII scorelog2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/49*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FADS1 [Title/Abstract] AND TGOLN2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFADS1(61569629)-TGOLN2(85545424), # 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
HgeneFADS1

GO:0007528

neuromuscular junction development

25537362


check buttonFusion gene breakpoints across FADS1 (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 TGOLN2 (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/ACB143399FADS1chr11

61569629

+TGOLN2chr2

85545424

-


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Fusion Gene ORF analysis for FADS1-TGOLN2

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-3UTRENST00000350997ENST00000282120FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000350997ENST00000377386FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000350997ENST00000398263FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000433932ENST00000282120FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000433932ENST00000377386FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000433932ENST00000398263FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000460649ENST00000282120FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000460649ENST00000377386FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000460649ENST00000398263FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000536991ENST00000282120FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000536991ENST00000377386FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000536991ENST00000398263FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000541683ENST00000282120FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000541683ENST00000377386FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000541683ENST00000398263FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000542506ENST00000282120FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000542506ENST00000377386FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-3UTRENST00000542506ENST00000398263FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000350997ENST00000409015FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000350997ENST00000409232FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000350997ENST00000444342FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000433932ENST00000409015FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000433932ENST00000409232FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000433932ENST00000444342FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000460649ENST00000409015FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000460649ENST00000409232FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000460649ENST00000444342FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000536991ENST00000409015FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000536991ENST00000409232FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000536991ENST00000444342FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000541683ENST00000409015FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000541683ENST00000409232FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000541683ENST00000444342FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000542506ENST00000409015FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000542506ENST00000409232FADS1chr11

61569629

+TGOLN2chr2

85545424

-
intron-intronENST00000542506ENST00000444342FADS1chr11

61569629

+TGOLN2chr2

85545424

-

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 FADS1-TGOLN2


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 FADS1-TGOLN2


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/:61569629/:85545424)
- 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
FADS1

O60427

.
FUNCTION: [Isoform 1]: Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapentaenoate (EPA) (20:5n-3), respectively (PubMed:10601301, PubMed:10769175). As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells (By similarity). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity). {ECO:0000250|UniProtKB:Q920L1, ECO:0000250|UniProtKB:Q920R3, ECO:0000269|PubMed:10601301, ECO:0000269|PubMed:10769175}.; FUNCTION: [Isoform 2]: Does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity. {ECO:0000250|UniProtKB:A4UVI1}.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 FADS1-TGOLN2


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 FADS1-TGOLN2


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 FADS1-TGOLN2


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 FADS1-TGOLN2


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