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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:NFIB-HEATR5B (FusionGDB2 ID:HG4781TG54497)

Fusion Gene Summary for NFIB-HEATR5B

check button Fusion gene summary
Fusion gene informationFusion gene name: NFIB-HEATR5B
Fusion gene ID: hg4781tg54497
HgeneTgene
Gene symbol

NFIB

HEATR5B

Gene ID

4781

54497

Gene namenuclear factor I BHEAT repeat containing 5B
SynonymsCTF|HMGIC/NFIB|MACID|NF-I/B|NF1-B|NFI-B|NFI-RED|NFIB2|NFIB3-
Cytomap('NFIB')('HEATR5B')

9p23-p22.3

2p22.2

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor 1 B-typeCCAAT-box-binding transcription factorTGGCA-binding proteinnuclear factor 1/BHEAT repeat-containing protein 5B
Modification date2020031320200313
UniProtAcc

O00712

.
Ensembl transtripts involved in fusion geneENST00000380921, ENST00000380953, 
ENST00000380959, ENST00000397575, 
ENST00000397579, ENST00000397581, 
ENST00000380924, ENST00000380934, 
ENST00000543693, 
Fusion gene scores* DoF score16 X 16 X 8=20484 X 7 X 6=168
# samples 188
** MAII scorelog2(18/2048*10)=-3.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NFIB [Title/Abstract] AND HEATR5B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNFIB(14313481)-HEATR5B(37208937), # samples:3
Anticipated loss of major functional domain due to fusion event.NFIB-HEATR5B seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NFIB-HEATR5B seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NFIB-HEATR5B seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
* 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
HgeneNFIB

GO:0045893

positive regulation of transcription, DNA-templated

30388402

HgeneNFIB

GO:0045944

positive regulation of transcription by RNA polymerase II

9099724|19540848



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-A1-A0SB-01ANFIBchr9

14313480

-HEATR5Bchr2

37208936

-
ChimerDB4BRCATCGA-A1-A0SB-01ANFIBchr9

14313481

-HEATR5Bchr2

37208937

-
ChimerDB4BRCATCGA-A1-A0SBNFIBchr9

14313480

-HEATR5Bchr2

37208937

-


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Fusion Gene ORF analysis for NFIB-HEATR5B

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
Frame-shiftENST00000380921ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000380921ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380921ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380921ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000380921ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380921ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380953ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000380953ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380953ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380953ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000380953ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380953ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380959ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000380959ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380959ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380959ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000380959ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000380959ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397575ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000397575ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397575ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397575ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000397575ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397575ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397579ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000397579ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397579ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397579ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000397579ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397579ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397581ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000397581ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397581ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397581ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
Frame-shiftENST00000397581ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
Frame-shiftENST00000397581ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000380924ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
intron-3CDSENST00000380924ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000380924ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000380924ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
intron-3CDSENST00000380924ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000380924ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000380934ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
intron-3CDSENST00000380934ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000380934ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000380934ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
intron-3CDSENST00000380934ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000380934ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000543693ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
intron-3CDSENST00000543693ENST00000233099NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000543693ENST00000233099NFIBchr9

14313480

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000543693ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208936

-
intron-3CDSENST00000543693ENST00000354531NFIBchr9

14313481

-HEATR5Bchr2

37208937

-
intron-3CDSENST00000543693ENST00000354531NFIBchr9

14313480

-HEATR5Bchr2

37208937

-

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 NFIB-HEATR5B


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 NFIB-HEATR5B


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/:14313481/:37208937)
- 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 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}.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}.

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 NFIB-HEATR5B


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 NFIB-HEATR5B


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 NFIB-HEATR5B


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 NFIB-HEATR5B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNFIBC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneNFIBC0221355Macrocephaly1GENOMICS_ENGLAND
HgeneNFIBC0557874Global developmental delay1GENOMICS_ENGLAND
HgeneNFIBC3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneNFIBC4748993MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT1GENOMICS_ENGLAND;UNIPROT