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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:MAFG-ACIN1 (FusionGDB2 ID:50720)

Fusion Gene Summary for MAFG-ACIN1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAFG-ACIN1
Fusion gene ID: 50720
HgeneTgene
Gene symbol

MAFG

ACIN1

Gene ID

4097

22985

Gene nameMAF bZIP transcription factor Gapoptotic chromatin condensation inducer 1
SynonymshMAFACINUS|ACN|fSAP152
Cytomap

17q25.3

14q11.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor MafGbasic leucine zipper transcription factor MafGv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog Gapoptotic chromatin condensation inducer in the nucleusfunctional spliceosome-associated protein 152
Modification date2020031320200313
UniProtAcc.

Q9UKV3

Ensembl transtripts involved in fusion geneENST00000357736, ENST00000392366, 
ENST00000262710, ENST00000338631, 
ENST00000357481, ENST00000397341, 
ENST00000457657, ENST00000555053, 
ENST00000557515, ENST00000605057, 
ENST00000555352, 
Fusion gene scores* DoF score3 X 3 X 1=911 X 11 X 4=484
# samples 312
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/484*10)=-2.01197264166608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAFG [Title/Abstract] AND ACIN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAFG(79877170)-ACIN1(23533628), # 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
TgeneACIN1

GO:0030263

apoptotic chromosome condensation

10490026


check buttonFusion gene breakpoints across MAFG (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 ACIN1 (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/AAW604300MAFGchr17

79877170

+ACIN1chr14

23533628

-
ChiTaRS5.0N/AAW604302MAFGchr17

79877170

+ACIN1chr14

23533628

-


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Fusion Gene ORF analysis for MAFG-ACIN1

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-3CDSENST00000357736ENST00000262710MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000357736ENST00000338631MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000357736ENST00000357481MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000357736ENST00000397341MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000357736ENST00000457657MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000357736ENST00000555053MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000357736ENST00000557515MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000357736ENST00000605057MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000392366ENST00000262710MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000392366ENST00000338631MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000392366ENST00000357481MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000392366ENST00000397341MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000392366ENST00000457657MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000392366ENST00000555053MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000392366ENST00000557515MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-3CDSENST00000392366ENST00000605057MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-intronENST00000357736ENST00000555352MAFGchr17

79877170

+ACIN1chr14

23533628

-
intron-intronENST00000392366ENST00000555352MAFGchr17

79877170

+ACIN1chr14

23533628

-

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 MAFG-ACIN1


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 MAFG-ACIN1


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/:79877170/:23533628)
- 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
.ACIN1

Q9UKV3

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: Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells. {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:12665594, ECO:0000269|PubMed:18559500, ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:22388736}.

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 MAFG-ACIN1


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 MAFG-ACIN1


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 MAFG-ACIN1


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 MAFG-ACIN1


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