Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:DNER-S100B (FusionGDB2 ID:HG92737TG6285)

Fusion Gene Summary for DNER-S100B

check button Fusion gene summary
Fusion gene informationFusion gene name: DNER-S100B
Fusion gene ID: hg92737tg6285
HgeneTgene
Gene symbol

DNER

S100B

Gene ID

92737

6285

Gene namedelta/notch like EGF repeat containingS100 calcium binding protein B
SynonymsUNQ26|betNEF|S100|S100-B|S100beta
Cytomap('DNER')('S100B')

2q36.3

21q22.3

Type of geneprotein-codingprotein-coding
Descriptiondelta and Notch-like epidermal growth factor-related receptorH_NH0150O02.1WUGSC:H_NH0150O02.1delta-notch-like EGF repeat-containing transmembraneprotein S100-BS-100 calcium-binding protein, beta chainS-100 protein subunit betaS100 calcium-binding protein, beta (neural)
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000341772, ENST00000482831, 
Fusion gene scores* DoF score3 X 3 X 2=189 X 7 X 1=63
# samples 310
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/63*10)=0.666576266274808
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DNER [Title/Abstract] AND S100B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNER(230459667)-S100B(48018872), # 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
TgeneS100B

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

15033494



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


Top

Fusion Gene ORF analysis for DNER-S100B

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

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

Top

Fusion Genomic Features for DNER-S100B


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)


Top

Fusion Protein Features for DNER-S100B


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/:230459667/:48018872)
- 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
..
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 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


Top

Fusion Gene Sequence for DNER-S100B


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.

Top

Fusion Gene PPI Analysis for DNER-S100B


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


Top

Related Drugs for DNER-S100B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for DNER-S100B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0005586Bipolar Disorder6CTD_human;PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0041696Unipolar Depression4PSYGENET
TgeneC1269683Major Depressive Disorder4PSYGENET
TgeneC0036341Schizophrenia3PSYGENET
TgeneC0005587Depression, Bipolar2CTD_human
TgeneC0024713Manic Disorder2CTD_human
TgeneC0338831Manic2CTD_human
TgeneC0525045Mood Disorders2PSYGENET
TgeneC0006114Cerebral Edema1CTD_human
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0012734Disruptive Behavior Disorder1CTD_human
TgeneC0013080Down Syndrome1CTD_human
TgeneC0018944Hematoma1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0029121Oppositional Defiant Disorder1CTD_human
TgeneC0086626Minamata Disease1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0221480Recurrent depression1PSYGENET
TgeneC0236964Attention Deficit and Disruptive Behavior Disorders1CTD_human
TgeneC0265110Cerebral Vasospasm1CTD_human
TgeneC0274859Inorganic Mercury Poisoning1CTD_human
TgeneC0274860Mercury Poisoning, Organic1CTD_human
TgeneC0432416Down Syndrome, Partial Trisomy 211CTD_human
TgeneC0432417Trisomy 21, Meiotic Nondisjunction1CTD_human
TgeneC0472387Vasogenic Cerebral Edema1CTD_human
TgeneC0472388Cytotoxic Cerebral Edema1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0546127Mercury Poisoning, Nervous System1CTD_human
TgeneC0750969Vasogenic Brain Edema1CTD_human
TgeneC0750970Cytotoxic Brain Edema1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC0751081Trisomy 21, Mitotic Nondisjunction1CTD_human
TgeneC0751855Mercury Encephalopathy1CTD_human
TgeneC0751856Mad Hatter Disease1CTD_human
TgeneC0751857Mercurial Neuroanesthenia1CTD_human
TgeneC0751858Mercury Psychosis1CTD_human
TgeneC0751895Vasospasm, Intracranial1CTD_human
TgeneC1527311Brain Edema1CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human
TgeneC2937358Cerebral Hemorrhage1CTD_human