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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:ACSL4-AMMECR1 (FusionGDB2 ID:1511)

Fusion Gene Summary for ACSL4-AMMECR1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACSL4-AMMECR1
Fusion gene ID: 1511
HgeneTgene
Gene symbol

ACSL4

AMMECR1

Gene ID

2182

9949

Gene nameacyl-CoA synthetase long chain family member 4AMMECR nuclear protein 1
SynonymsACS4|FACL4|LACS4|MRX63|MRX68AMMERC1|MFHIEN
Cytomap

Xq23

Xq23

Type of geneprotein-codingprotein-coding
Descriptionlong-chain-fatty-acid--CoA ligase 4acyl-CoA synthetase 4arachidonate--CoA ligasefatty-acid-Coenzyme A ligase, long-chain 4lignoceroyl-CoA synthaselong-chain acyl-CoA synthetase 4long-chain fatty-acid-Coenzyme A ligase 4AMME syndrome candidate gene 1 proteinAlport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Modification date2020031320200313
UniProtAcc

O60488

Q6DCA0

Ensembl transtripts involved in fusion geneENST00000340800, ENST00000348502, 
ENST00000469796, ENST00000504383, 
ENST00000372057, ENST00000262844, 
ENST00000372059, ENST00000496695, 
Fusion gene scores* DoF score3 X 4 X 2=248 X 8 X 4=256
# samples 49
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/256*10)=-1.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACSL4 [Title/Abstract] AND AMMECR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACSL4(108976367)-AMMECR1(109670031), # samples:1
ACSL4(108976368)-AMMECR1(109670031), # 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
HgeneACSL4

GO:0001676

long-chain fatty acid metabolic process

24269233

HgeneACSL4

GO:0006629

lipid metabolic process

9598324


check buttonFusion gene breakpoints across ACSL4 (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 AMMECR1 (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
ChimerDB4BRCATCGA-B6-A0X1-01AACSL4chrX

108976368

-AMMECR1chrX

109670031

-
ChimerDB4BRCATCGA-B6-A0X1ACSL4chrX

108976367

-AMMECR1chrX

109670031

-


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Fusion Gene ORF analysis for ACSL4-AMMECR1

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-5UTRENST00000340800ENST00000372057ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-5UTRENST00000340800ENST00000372057ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-5UTRENST00000348502ENST00000372057ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-5UTRENST00000348502ENST00000372057ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-5UTRENST00000469796ENST00000372057ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-5UTRENST00000469796ENST00000372057ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-5UTRENST00000504383ENST00000372057ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-5UTRENST00000504383ENST00000372057ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000340800ENST00000262844ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000340800ENST00000262844ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000340800ENST00000372059ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000340800ENST00000372059ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000340800ENST00000496695ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000340800ENST00000496695ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000348502ENST00000262844ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000348502ENST00000262844ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000348502ENST00000372059ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000348502ENST00000372059ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000348502ENST00000496695ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000348502ENST00000496695ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000469796ENST00000262844ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000469796ENST00000262844ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000469796ENST00000372059ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000469796ENST00000372059ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000469796ENST00000496695ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000469796ENST00000496695ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000504383ENST00000262844ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000504383ENST00000262844ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000504383ENST00000372059ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000504383ENST00000372059ACSL4chrX

108976367

-AMMECR1chrX

109670031

-
5UTR-intronENST00000504383ENST00000496695ACSL4chrX

108976368

-AMMECR1chrX

109670031

-
5UTR-intronENST00000504383ENST00000496695ACSL4chrX

108976367

-AMMECR1chrX

109670031

-

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 ACSL4-AMMECR1


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 ACSL4-AMMECR1


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/:108976367/:109670031)
- 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
ACSL4

O60488

AMMECR1

Q6DCA0

FUNCTION: Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:24269233, PubMed:22633490, PubMed:21242590). Preferentially activates arachidonate and eicosapentaenoate as substrates (PubMed:21242590). Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET. Modulates glucose-stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion (PubMed:21242590). {ECO:0000250|UniProtKB:O35547, ECO:0000269|PubMed:21242590, ECO:0000269|PubMed:22633490, ECO:0000269|PubMed:24269233}.

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 ACSL4-AMMECR1


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 ACSL4-AMMECR1


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 ACSL4-AMMECR1


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 ACSL4-AMMECR1


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