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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-CSNK1G1 (FusionGDB2 ID:HG1106TG53944)

Fusion Gene Summary for CHD2-CSNK1G1

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD2-CSNK1G1
Fusion gene ID: hg1106tg53944
HgeneTgene
Gene symbol

CHD2

CSNK1G1

Gene ID

1106

53944

Gene namechromodomain helicase DNA binding protein 2casein kinase 1 gamma 1
SynonymsEEOCCK1gamma1
Cytomap('CHD2')('CSNK1G1')

15q26.1

15q22.31

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 2ATP-dependent helicase CHD2CHD-2casein kinase I isoform gamma-1
Modification date2020031320200313
UniProtAcc

O14647

Q9HCP0

Ensembl transtripts involved in fusion geneENST00000394196, ENST00000420239, 
ENST00000536619, ENST00000557381, 
ENST00000554122, 
Fusion gene scores* DoF score22 X 13 X 11=31469 X 10 X 8=720
# samples 239
** MAII scorelog2(23/3146*10)=-3.77381290447131
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/720*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHD2 [Title/Abstract] AND CSNK1G1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHD2(93492273)-CSNK1G1(64473418), # 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
TgeneCSNK1G1

GO:0018105

peptidyl-serine phosphorylation

25500533



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
ChimerDB4LGGTCGA-HT-7477-01BCHD2chr15

93492273

+CSNK1G1chr15

64473418

-


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Fusion Gene ORF analysis for CHD2-CSNK1G1

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
5CDS-intronENST00000394196ENST00000303032CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000394196ENST00000303052CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000394196ENST00000607537CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000420239ENST00000303032CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000420239ENST00000303052CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000420239ENST00000607537CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000536619ENST00000303032CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000536619ENST00000303052CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000536619ENST00000607537CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000557381ENST00000303032CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000557381ENST00000303052CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
5CDS-intronENST00000557381ENST00000607537CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
intron-intronENST00000554122ENST00000303032CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
intron-intronENST00000554122ENST00000303052CHD2chr15

93492273

+CSNK1G1chr15

64473418

-
intron-intronENST00000554122ENST00000607537CHD2chr15

93492273

+CSNK1G1chr15

64473418

-

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-CSNK1G1


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 CHD2-CSNK1G1


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/:93492273/:64473418)
- 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

CSNK1G1

Q9HCP0

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: Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN. {ECO:0000250, ECO:0000269|PubMed:21680713}.

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-CSNK1G1


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-CSNK1G1


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-CSNK1G1


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-CSNK1G1


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