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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-YWHAE (FusionGDB2 ID:28219)

Fusion Gene Summary for FADS1-YWHAE

check button Fusion gene summary
Fusion gene informationFusion gene name: FADS1-YWHAE
Fusion gene ID: 28219
HgeneTgene
Gene symbol

FADS1

YWHAE

Gene ID

4593

7531

Gene namemuscle associated receptor tyrosine kinasetyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
SynonymsCMS9|FADS|FADS114-3-3E|HEL2|KCIP-1|MDCR|MDS
Cytomap

9q31.3

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionmuscle, skeletal receptor tyrosine-protein kinasemuscle, skeletal, receptor tyrosine kinasemuscle-specific kinase receptormuscle-specific tyrosine-protein kinase receptor14-3-3 protein epsilon14-3-3 epsilonepididymis luminal protein 2mitochondrial import stimulation factor L subunitprotein kinase C inhibitor protein-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptidetyrosine
Modification date2020031320200327
UniProtAcc

O60427

P62258

Ensembl transtripts involved in fusion geneENST00000460649, ENST00000350997, 
ENST00000433932, ENST00000536991, 
ENST00000541683, ENST00000542506, 
ENST00000264335, ENST00000498643, 
ENST00000571732, ENST00000573026, 
ENST00000575977, 
Fusion gene scores* DoF score7 X 8 X 2=11225 X 13 X 12=3900
# samples 832
** MAII scorelog2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(32/3900*10)=-3.60733031374961
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointFADS1(61569695)-YWHAE(1270940), # 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

TgeneYWHAE

GO:0000165

MAPK cascade

12917326

TgeneYWHAE

GO:0034605

cellular response to heat

12917326

TgeneYWHAE

GO:0046827

positive regulation of protein export from nucleus

12917326

TgeneYWHAE

GO:0051480

regulation of cytosolic calcium ion concentration

18029012

TgeneYWHAE

GO:0060306

regulation of membrane repolarization

11953308

TgeneYWHAE

GO:1901016

regulation of potassium ion transmembrane transporter activity

11953308

TgeneYWHAE

GO:1901020

negative regulation of calcium ion transmembrane transporter activity

18029012

TgeneYWHAE

GO:1902309

negative regulation of peptidyl-serine dephosphorylation

11953308

TgeneYWHAE

GO:1905913

negative regulation of calcium ion export across plasma membrane

18029012


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 YWHAE (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/AAW937108FADS1chr11

61569695

+YWHAEchr17

1270940

+


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Fusion Gene ORF analysis for FADS1-YWHAE

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-intronENST00000460649ENST00000264335FADS1chr11

61569695

+YWHAEchr17

1270940

+
5CDS-intronENST00000460649ENST00000498643FADS1chr11

61569695

+YWHAEchr17

1270940

+
5CDS-intronENST00000460649ENST00000571732FADS1chr11

61569695

+YWHAEchr17

1270940

+
5CDS-intronENST00000460649ENST00000573026FADS1chr11

61569695

+YWHAEchr17

1270940

+
5CDS-intronENST00000460649ENST00000575977FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000350997ENST00000264335FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000350997ENST00000498643FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000350997ENST00000571732FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000350997ENST00000573026FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000350997ENST00000575977FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000433932ENST00000264335FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000433932ENST00000498643FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000433932ENST00000571732FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000433932ENST00000573026FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000433932ENST00000575977FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000536991ENST00000264335FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000536991ENST00000498643FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000536991ENST00000571732FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000536991ENST00000573026FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000536991ENST00000575977FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000541683ENST00000264335FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000541683ENST00000498643FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000541683ENST00000571732FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000541683ENST00000573026FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000541683ENST00000575977FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000542506ENST00000264335FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000542506ENST00000498643FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000542506ENST00000571732FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000542506ENST00000573026FADS1chr11

61569695

+YWHAEchr17

1270940

+
intron-intronENST00000542506ENST00000575977FADS1chr11

61569695

+YWHAEchr17

1270940

+

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-YWHAE


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-YWHAE


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/:61569695/:1270940)
- 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

YWHAE

P62258

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: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326). {ECO:0000250|UniProtKB:P62261, ECO:0000269|PubMed:12917326}.

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-YWHAE


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-YWHAE


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-YWHAE


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-YWHAE


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