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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:ACSM1-DNAH3 (FusionGDB2 ID:1524)

Fusion Gene Summary for ACSM1-DNAH3

check button Fusion gene summary
Fusion gene informationFusion gene name: ACSM1-DNAH3
Fusion gene ID: 1524
HgeneTgene
Gene symbol

ACSM1

DNAH3

Gene ID

116285

55567

Gene nameacyl-CoA synthetase medium chain family member 1dynein axonemal heavy chain 3
SynonymsBUCS1|MACS1DNAHC3-B|DNAHC3B|HDHC8|HEL-36|HSADHC3
Cytomap

16p12.3

16p12.3

Type of geneprotein-codingprotein-coding
Descriptionacyl-coenzyme A synthetase ACSM1, mitochondrialButyrate CoA ligasebenzoate--CoA ligasebutyrate--CoA ligase 1butyryl Coenzyme A synthetase 1butyryl-coenzyme A synthetase 1lipoate-activating enzymemedium-chain acyl-CoA synthetasemiddle-chain acyl-Codynein heavy chain 3, axonemalaxonemal beta dynein heavy chain 3axonemal dynein, heavy chainciliary dynein heavy chain 3dynein, axonemal, heavy polypeptide 3epididymis luminal protein 36
Modification date2020031320200313
UniProtAcc

Q08AH1

Q8TD57

Ensembl transtripts involved in fusion geneENST00000307493, ENST00000520010, 
ENST00000219151, 
ENST00000261383, 
ENST00000415178, ENST00000575491, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 5 X 4=120
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/120*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACSM1 [Title/Abstract] AND DNAH3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACSM1(20681149)-DNAH3(21128660), # 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

check buttonFusion gene breakpoints across ACSM1 (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 DNAH3 (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
ChimerDB4PRADTCGA-EJ-A46G-01AACSM1chr16

20681149

-DNAH3chr16

21128660

-


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Fusion Gene ORF analysis for ACSM1-DNAH3

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-intronENST00000307493ENST00000261383ACSM1chr16

20681149

-DNAH3chr16

21128660

-
5CDS-intronENST00000307493ENST00000415178ACSM1chr16

20681149

-DNAH3chr16

21128660

-
5CDS-intronENST00000307493ENST00000575491ACSM1chr16

20681149

-DNAH3chr16

21128660

-
5CDS-intronENST00000520010ENST00000261383ACSM1chr16

20681149

-DNAH3chr16

21128660

-
5CDS-intronENST00000520010ENST00000415178ACSM1chr16

20681149

-DNAH3chr16

21128660

-
5CDS-intronENST00000520010ENST00000575491ACSM1chr16

20681149

-DNAH3chr16

21128660

-
5UTR-intronENST00000219151ENST00000261383ACSM1chr16

20681149

-DNAH3chr16

21128660

-
5UTR-intronENST00000219151ENST00000415178ACSM1chr16

20681149

-DNAH3chr16

21128660

-
5UTR-intronENST00000219151ENST00000575491ACSM1chr16

20681149

-DNAH3chr16

21128660

-

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 ACSM1-DNAH3


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 ACSM1-DNAH3


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/:20681149/:21128660)
- 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
ACSM1

Q08AH1

DNAH3

Q8TD57

FUNCTION: Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:10434065). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate (PubMed:10434065). Also catalyzes the activation of lipoate to lipoyl-nucleoside monophosphate (By similarity). Activates lipoate with GTP at a 1000-fold higher rate than with ATP and activates both (R)- and (S)-lipoate to the respective lipoyl-GMP, with a preference for (R)-lipoate (By similarity). {ECO:0000250|UniProtKB:Q9BEA2, ECO:0000269|PubMed:10434065}.FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (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 ACSM1-DNAH3


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 ACSM1-DNAH3


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 ACSM1-DNAH3


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 ACSM1-DNAH3


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