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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:ACO1-NFIB (FusionGDB2 ID:HG48TG4781)

Fusion Gene Summary for ACO1-NFIB

check button Fusion gene summary
Fusion gene informationFusion gene name: ACO1-NFIB
Fusion gene ID: hg48tg4781
HgeneTgene
Gene symbol

ACO1

NFIB

Gene ID

48

4781

Gene nameaconitase 1nuclear factor I B
SynonymsACONS|HEL60|IREB1|IREBP|IREBP1|IRP1CTF|HMGIC/NFIB|MACID|NF-I/B|NF1-B|NFI-B|NFI-RED|NFIB2|NFIB3
Cytomap('ACO1')('NFIB')

9p21.1

9p23-p22.3

Type of geneprotein-codingprotein-coding
Descriptioncytoplasmic aconitate hydrataseaconitase 1, solubleaconitate hydratase, cytoplasmiccitrate hydro-lyasecytoplasmic aconitasecytosplasmic aconitaseepididymis luminal protein 60epididymis secretory sperm binding proteinferritin repressor proteinironnuclear factor 1 B-typeCCAAT-box-binding transcription factorTGGCA-binding proteinnuclear factor 1/B
Modification date2020031320200313
UniProtAcc.

O00712

Ensembl transtripts involved in fusion geneENST00000309951, ENST00000379923, 
ENST00000541043, 
Fusion gene scores* DoF score4 X 4 X 4=6413 X 23 X 8=2392
# samples 617
** MAII scorelog2(6/64*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/2392*10)=-3.8146107380604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACO1 [Title/Abstract] AND NFIB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACO1(32384733)-NFIB(14155892), # 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
HgeneACO1

GO:0006101

citrate metabolic process

8041788|16527810

HgeneACO1

GO:0010040

response to iron(II) ion

8041788

TgeneNFIB

GO:0045893

positive regulation of transcription, DNA-templated

30388402

TgeneNFIB

GO:0045944

positive regulation of transcription by RNA polymerase II

9099724|19540848



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
ChimerDB4ESCATCGA-LN-A49WACO1chr9

32384733

+NFIBchr9

14155892

-


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Fusion Gene ORF analysis for ACO1-NFIB

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-3CDSENST00000309951ENST00000380934ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000309951ENST00000380953ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000309951ENST00000380959ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000309951ENST00000397575ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000309951ENST00000397579ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000309951ENST00000397581ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000379923ENST00000380934ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000379923ENST00000380953ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000379923ENST00000380959ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000379923ENST00000397575ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000379923ENST00000397579ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000379923ENST00000397581ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000541043ENST00000380934ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000541043ENST00000380953ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000541043ENST00000380959ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000541043ENST00000397575ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000541043ENST00000397579ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-3CDSENST00000541043ENST00000397581ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-5UTRENST00000309951ENST00000380924ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-5UTRENST00000309951ENST00000543693ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-5UTRENST00000379923ENST00000380924ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-5UTRENST00000379923ENST00000543693ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-5UTRENST00000541043ENST00000380924ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-5UTRENST00000541043ENST00000543693ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-intronENST00000309951ENST00000380921ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-intronENST00000379923ENST00000380921ACO1chr9

32384733

+NFIBchr9

14155892

-
5UTR-intronENST00000541043ENST00000380921ACO1chr9

32384733

+NFIBchr9

14155892

-

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 ACO1-NFIB


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)


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Fusion Protein Features for ACO1-NFIB


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/:32384733/:14155892)
- 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
.NFIB

O00712

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: Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. {ECO:0000269|PubMed:30388402}.

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 ACO1-NFIB


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 ACO1-NFIB


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 ACO1-NFIB


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 ACO1-NFIB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACO1C0027626Neoplasm Invasiveness1CTD_human
HgeneACO1C0029408Degenerative polyarthritis1CTD_human
HgeneACO1C0086743Osteoarthrosis Deformans1CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0221355Macrocephaly1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4748993MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT1GENOMICS_ENGLAND;UNIPROT