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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:AACS-MAL (FusionGDB2 ID:HG65985TG4118)

Fusion Gene Summary for AACS-MAL

check button Fusion gene summary
Fusion gene informationFusion gene name: AACS-MAL
Fusion gene ID: hg65985tg4118
HgeneTgene
Gene symbol

AACS

MAL

Gene ID

65985

4118

Gene nameacetoacetyl-CoA synthetasemal, T cell differentiation protein
SynonymsACSF1|SUR-5MVP17|VIP17
Cytomap('AACS')('MAL')

12q24.31

2q11.1

Type of geneprotein-codingprotein-coding
Descriptionacetoacetyl-CoA synthetaseacetoacetate-CoA ligaseacyl-CoA synthetase family member 1homolog of C. elegans supressor of ras 5 (sur-5)protein sur-5 homologmyelin and lymphocyte proteinT-lymphocyte maturation-associated protein
Modification date2020031320200313
UniProtAcc.

P21145

Ensembl transtripts involved in fusion geneENST00000261686, ENST00000316519, 
ENST00000316543, ENST00000398953, 
ENST00000543665, ENST00000545511, 
Fusion gene scores* DoF score5 X 5 X 5=1252 X 3 X 2=12
# samples 63
** MAII scorelog2(6/125*10)=-1.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AACS [Title/Abstract] AND MAL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAACS(125561157)-MAL(95713704), # samples:2
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 button Fusion gene information
* 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
ChimerDB4UCECTCGA-AX-A1C7-01AAACSchr12

125561157

-MALchr2

95713704

+
ChimerDB4UCECTCGA-AX-A1C7-01AAACSchr12

125561157

+MALchr2

95713704

+
ChimerDB4UCECTCGA-AX-A1C7AACSchr12

125561157

+MALchr2

95713703

+


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Fusion Gene ORF analysis for AACS-MAL

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-intronENST00000261686ENST00000309988AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000261686ENST00000309988AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000261686ENST00000349807AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000261686ENST00000349807AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000261686ENST00000353004AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000261686ENST00000353004AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000261686ENST00000354078AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000261686ENST00000354078AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000261686ENST00000489399AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000261686ENST00000489399AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000316519ENST00000309988AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000316519ENST00000309988AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000316519ENST00000349807AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000316519ENST00000349807AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000316519ENST00000353004AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000316519ENST00000353004AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000316519ENST00000354078AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000316519ENST00000354078AACSchr12

125561157

+MALchr2

95713703

+
5CDS-intronENST00000316519ENST00000489399AACSchr12

125561157

+MALchr2

95713704

+
5CDS-intronENST00000316519ENST00000489399AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000316543ENST00000309988AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000316543ENST00000309988AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000316543ENST00000349807AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000316543ENST00000349807AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000316543ENST00000353004AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000316543ENST00000353004AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000316543ENST00000354078AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000316543ENST00000354078AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000316543ENST00000489399AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000316543ENST00000489399AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000398953ENST00000309988AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000398953ENST00000309988AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000398953ENST00000349807AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000398953ENST00000349807AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000398953ENST00000353004AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000398953ENST00000353004AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000398953ENST00000354078AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000398953ENST00000354078AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000398953ENST00000489399AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000398953ENST00000489399AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000543665ENST00000309988AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000543665ENST00000309988AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000543665ENST00000349807AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000543665ENST00000349807AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000543665ENST00000353004AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000543665ENST00000353004AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000543665ENST00000354078AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000543665ENST00000354078AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000543665ENST00000489399AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000543665ENST00000489399AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000545511ENST00000309988AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000545511ENST00000309988AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000545511ENST00000349807AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000545511ENST00000349807AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000545511ENST00000353004AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000545511ENST00000353004AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000545511ENST00000354078AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000545511ENST00000354078AACSchr12

125561157

+MALchr2

95713703

+
intron-intronENST00000545511ENST00000489399AACSchr12

125561157

+MALchr2

95713704

+
intron-intronENST00000545511ENST00000489399AACSchr12

125561157

+MALchr2

95713703

+

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 AACS-MAL


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)
AACSchr12125561157+MALchr295713703+4.23E-101
AACSchr12125561157+MALchr295713703+4.23E-101
AACSchr12125561157+MALchr295713703+4.23E-101
AACSchr12125561157+MALchr295713703+4.23E-101


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 AACS-MAL


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/:125561157/:95713704)
- 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
.MAL

P21145

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: Could be an important component in vesicular trafficking cycling between the Golgi complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function.

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 AACS-MAL


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 AACS-MAL


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 AACS-MAL


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 AACS-MAL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0018671Head and Neck Neoplasms1CTD_human
TgeneC0018675Head Neoplasms1CTD_human
TgeneC0027533Neck Neoplasms1CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0746787Cancer of Neck1CTD_human
TgeneC0751177Cancer of Head1CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human