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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:NPAS2-CREB1 (FusionGDB2 ID:HG4862TG1385)

Fusion Gene Summary for NPAS2-CREB1

check button Fusion gene summary
Fusion gene informationFusion gene name: NPAS2-CREB1
Fusion gene ID: hg4862tg1385
HgeneTgene
Gene symbol

NPAS2

CREB1

Gene ID

4862

1385

Gene nameneuronal PAS domain protein 2cAMP responsive element binding protein 1
SynonymsMOP4|PASD4|bHLHe9CREB|CREB-1
Cytomap('NPAS2')('CREB1')

2q11.2

2q33.3

Type of geneprotein-codingprotein-coding
Descriptionneuronal PAS domain-containing protein 2PAS domain-containing protein 4basic-helix-loop-helix-PAS protein MOP4class E basic helix-loop-helix protein 9member of PAS protein 4member of PAS superfamily 4neuronal PAS2cyclic AMP-responsive element-binding protein 1active transcription factor CREBcAMP-response element-binding protein-1cyclic adenosine 3',5'-monophosphate response element binding proteincyclic adenosine 3',5'-monophosphate response element-binding pr
Modification date2020031320200315
UniProtAcc.

P16220

Ensembl transtripts involved in fusion geneENST00000335681, ENST00000486017, 
ENST00000542504, 
Fusion gene scores* DoF score9 X 6 X 9=4867 X 8 X 4=224
# samples 97
** MAII scorelog2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/224*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NPAS2 [Title/Abstract] AND CREB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNPAS2(101436876)-CREB1(208420352), # 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
HgeneNPAS2

GO:0045893

positive regulation of transcription, DNA-templated

11441146

HgeneNPAS2

GO:0051775

response to redox state

11441146

TgeneCREB1

GO:0006468

protein phosphorylation

8798441

TgeneCREB1

GO:0010033

response to organic substance

8798441

TgeneCREB1

GO:0010944

negative regulation of transcription by competitive promoter binding

19861239

TgeneCREB1

GO:0045944

positive regulation of transcription by RNA polymerase II

1655749|8798441|19861239



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
ChimerDB4LUADTCGA-05-5428-01ANPAS2chr2

101436876

+CREB1chr2

208420352

+


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Fusion Gene ORF analysis for NPAS2-CREB1

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-5UTRENST00000335681ENST00000353267NPAS2chr2

101436876

+CREB1chr2

208420352

+
5UTR-5UTRENST00000335681ENST00000374397NPAS2chr2

101436876

+CREB1chr2

208420352

+
5UTR-5UTRENST00000335681ENST00000430624NPAS2chr2

101436876

+CREB1chr2

208420352

+
5UTR-5UTRENST00000335681ENST00000432329NPAS2chr2

101436876

+CREB1chr2

208420352

+
5UTR-5UTRENST00000335681ENST00000536726NPAS2chr2

101436876

+CREB1chr2

208420352

+
5UTR-intronENST00000335681ENST00000451164NPAS2chr2

101436876

+CREB1chr2

208420352

+
5UTR-intronENST00000335681ENST00000539789NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000486017ENST00000353267NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000486017ENST00000374397NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000486017ENST00000430624NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000486017ENST00000432329NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000486017ENST00000536726NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000542504ENST00000353267NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000542504ENST00000374397NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000542504ENST00000430624NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000542504ENST00000432329NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-5UTRENST00000542504ENST00000536726NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-intronENST00000486017ENST00000451164NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-intronENST00000486017ENST00000539789NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-intronENST00000542504ENST00000451164NPAS2chr2

101436876

+CREB1chr2

208420352

+
intron-intronENST00000542504ENST00000539789NPAS2chr2

101436876

+CREB1chr2

208420352

+

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 NPAS2-CREB1


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)
NPAS2chr2101436876+CREB1chr2208420351+0.0102185320.9897815
NPAS2chr2101436876+CREB1chr2208420351+0.0102185320.9897815


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 NPAS2-CREB1


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/:101436876/:208420352)
- 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
.CREB1

P16220

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: Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-119 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells.

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 NPAS2-CREB1


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 NPAS2-CREB1


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 NPAS2-CREB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCREB1P16220DB00131Adenosine phosphateActivatorSmall moleculeApproved|Investigational|Nutraceutical
TgeneCREB1P16220DB01183NaloxoneOther/unknownSmall moleculeApproved|Vet_approved

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Related Diseases for NPAS2-CREB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNPAS2C0005586Bipolar Disorder5PSYGENET
HgeneNPAS2C0085159Seasonal Affective Disorder4PSYGENET
HgeneNPAS2C0011581Depressive disorder2PSYGENET
HgeneNPAS2C0004352Autistic Disorder1CTD_human
HgeneNPAS2C0011570Mental Depression1PSYGENET
HgeneNPAS2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneNPAS2C0036337Schizoaffective Disorder1PSYGENET
HgeneNPAS2C0036341Schizophrenia1PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0041696Unipolar Depression5PSYGENET
TgeneC0525045Mood Disorders5PSYGENET
TgeneC1269683Major Depressive Disorder5PSYGENET
TgeneC0600427Cocaine Dependence4CTD_human;PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic3PSYGENET
TgeneC0005586Bipolar Disorder3PSYGENET
TgeneC0009171Cocaine Abuse3CTD_human
TgeneC0036341Schizophrenia3PSYGENET
TgeneC0236736Cocaine-Related Disorders3CTD_human
TgeneC0026552Morphine Dependence1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0038587Substance Withdrawal Syndrome1CTD_human
TgeneC0086189Drug Withdrawal Symptoms1CTD_human
TgeneC0087169Withdrawal Symptoms1CTD_human
TgeneC0151779Cutaneous Melanoma1CTD_human
TgeneC0206651Clear Cell Sarcoma of Soft Tissue1ORPHANET
TgeneC0600272Morphine Abuse1CTD_human