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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:CHD2-ZNF880 (FusionGDB2 ID:HG1106TG400713)

Fusion Gene Summary for CHD2-ZNF880

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD2-ZNF880
Fusion gene ID: hg1106tg400713
HgeneTgene
Gene symbol

CHD2

ZNF880

Gene ID

1106

400713

Gene namechromodomain helicase DNA binding protein 2zinc finger protein 880
SynonymsEEOC-
Cytomap('CHD2')('ZNF880')

15q26.1

19q13.41

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 2ATP-dependent helicase CHD2CHD-2zinc finger protein 880zinc finger protein LOC400713
Modification date2020031320200313
UniProtAcc

O14647

.
Ensembl transtripts involved in fusion geneENST00000554122, ENST00000394196, 
ENST00000420239, ENST00000557381, 
ENST00000536619, 
Fusion gene scores* DoF score22 X 13 X 11=31464 X 4 X 2=32
# samples 234
** MAII scorelog2(23/3146*10)=-3.77381290447131
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CHD2 [Title/Abstract] AND ZNF880 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHD2(93444529)-ZNF880(52887102), # samples:3
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


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
ChimerDB4SKCMTCGA-ER-A197-06ACHD2chr15

93444529

-ZNF880chr19

52887102

+
ChimerDB4SKCMTCGA-ER-A197-06ACHD2chr15

93444529

+ZNF880chr19

52887102

+


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Fusion Gene ORF analysis for CHD2-ZNF880

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
3UTR-3UTRENST00000554122ENST00000424032CHD2chr15

93444529

+ZNF880chr19

52887102

+
3UTR-intronENST00000554122ENST00000344085CHD2chr15

93444529

+ZNF880chr19

52887102

+
3UTR-intronENST00000554122ENST00000422689CHD2chr15

93444529

+ZNF880chr19

52887102

+
3UTR-intronENST00000554122ENST00000595099CHD2chr15

93444529

+ZNF880chr19

52887102

+
3UTR-intronENST00000554122ENST00000597976CHD2chr15

93444529

+ZNF880chr19

52887102

+
3UTR-intronENST00000554122ENST00000600321CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-3UTRENST00000394196ENST00000424032CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-3UTRENST00000420239ENST00000424032CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-3UTRENST00000557381ENST00000424032CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000394196ENST00000344085CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000394196ENST00000422689CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000394196ENST00000595099CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000394196ENST00000597976CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000394196ENST00000600321CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000420239ENST00000344085CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000420239ENST00000422689CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000420239ENST00000595099CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000420239ENST00000597976CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000420239ENST00000600321CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000557381ENST00000344085CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000557381ENST00000422689CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000557381ENST00000595099CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000557381ENST00000597976CHD2chr15

93444529

+ZNF880chr19

52887102

+
5CDS-intronENST00000557381ENST00000600321CHD2chr15

93444529

+ZNF880chr19

52887102

+
intron-3UTRENST00000536619ENST00000424032CHD2chr15

93444529

+ZNF880chr19

52887102

+
intron-intronENST00000536619ENST00000344085CHD2chr15

93444529

+ZNF880chr19

52887102

+
intron-intronENST00000536619ENST00000422689CHD2chr15

93444529

+ZNF880chr19

52887102

+
intron-intronENST00000536619ENST00000595099CHD2chr15

93444529

+ZNF880chr19

52887102

+
intron-intronENST00000536619ENST00000597976CHD2chr15

93444529

+ZNF880chr19

52887102

+
intron-intronENST00000536619ENST00000600321CHD2chr15

93444529

+ZNF880chr19

52887102

+

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 CHD2-ZNF880


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)
CHD2chr1593444529+ZNF880chr1952887101+9.52E-050.9999049
CHD2chr1593444529+ZNF880chr1952887101+9.52E-050.9999049


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 CHD2-ZNF880


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/:93444529/:52887102)
- 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
CHD2

O14647

.
FUNCTION: DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (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


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Fusion Gene Sequence for CHD2-ZNF880


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 CHD2-ZNF880


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 CHD2-ZNF880


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 CHD2-ZNF880


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHD2C0014544Epilepsy2CTD_human
HgeneCHD2C0086237Epilepsy, Cryptogenic2CTD_human
HgeneCHD2C0236018Aura2CTD_human
HgeneCHD2C0751111Awakening Epilepsy2CTD_human
HgeneCHD2C3809278EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET2GENOMICS_ENGLAND;UNIPROT
HgeneCHD2C0040517Gilles de la Tourette syndrome1GENOMICS_ENGLAND
HgeneCHD2C0238111Lennox-Gastaut syndrome1ORPHANET
HgeneCHD2C0393702Myoclonic Astatic Epilepsy1ORPHANET
HgeneCHD2C0543888Epileptic encephalopathy1GENOMICS_ENGLAND
HgeneCHD2C1510586Autism Spectrum Disorders1CTD_human
HgeneCHD2C1535926Neurodevelopmental Disorders1CTD_human