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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6967

FusionGeneSummary for CHD2_CHD2

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD2_CHD2
Fusion gene ID: 6967
HgeneTgene
Gene symbol

CHD2

CHD2

Gene ID

1826

1826

Gene nameDS cell adhesion moleculeDS cell adhesion molecule
SynonymsCHD2|CHD2-42|CHD2-52CHD2|CHD2-42|CHD2-52
Cytomap

21q22.2

21q22.2

Type of geneprotein-codingprotein-coding
DescriptionDown syndrome cell adhesion moleculeDown syndrome cell adhesion molecule
Modification date2018051920180519
UniProtAcc

O14647

O14647

Ensembl transtripts involved in fusion geneENST00000394196, ENST00000557381, 
ENST00000420239, ENST00000536619, 
ENST00000554122, 		ENST00000394196, 
ENST00000557381, ENST00000420239, 
ENST00000536619, ENST00000554122, 
Fusion gene scores* DoF score11 X 9 X 5=4955 X 7 X 2=70
# samples 127
** MAII scorelog2(12/495*10)=-2.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/70*10)=0
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneCHD2

GO:0042327

positive regulation of phosphorylation

19196994

HgeneCHD2

GO:0048842

positive regulation of axon extension involved in axon guidance

18585357

TgeneCHD2

GO:0042327

positive regulation of phosphorylation

19196994

TgeneCHD2

GO:0048842

positive regulation of axon extension involved in axon guidance

18585357


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BM969602CHD2chr15

93570744

-CHD2chr15

93570700

+
ChiTaRS3.1AI909166CHD2chr15

93569884

-CHD2chr15

93570051

+
ChiTaRS3.1BI035224CHD2chr15

93545548

+CHD2chr15

93540185

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3UTRENST00000394196ENST00000394196CHD2chr15

93570744

-CHD2chr15

93570700

+
3UTR-intronENST00000394196ENST00000557381CHD2chr15

93570744

-CHD2chr15

93570700

+
3UTR-intronENST00000394196ENST00000420239CHD2chr15

93570744

-CHD2chr15

93570700

+
3UTR-intronENST00000394196ENST00000536619CHD2chr15

93570744

-CHD2chr15

93570700

+
3UTR-intronENST00000394196ENST00000554122CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-3UTRENST00000557381ENST00000394196CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000557381ENST00000557381CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000557381ENST00000420239CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000557381ENST00000536619CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000557381ENST00000554122CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-3UTRENST00000420239ENST00000394196CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000420239ENST00000557381CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000420239ENST00000420239CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000420239ENST00000536619CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000420239ENST00000554122CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-3UTRENST00000536619ENST00000394196CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000536619ENST00000557381CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000536619ENST00000420239CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000536619ENST00000536619CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000536619ENST00000554122CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-3UTRENST00000554122ENST00000394196CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000554122ENST00000557381CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000554122ENST00000420239CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000554122ENST00000536619CHD2chr15

93570744

-CHD2chr15

93570700

+
intron-intronENST00000554122ENST00000554122CHD2chr15

93570744

-CHD2chr15

93570700

+
3UTR-3UTRENST00000394196ENST00000394196CHD2chr15

93569884

-CHD2chr15

93570051

+
3UTR-intronENST00000394196ENST00000557381CHD2chr15

93569884

-CHD2chr15

93570051

+
3UTR-intronENST00000394196ENST00000420239CHD2chr15

93569884

-CHD2chr15

93570051

+
3UTR-intronENST00000394196ENST00000536619CHD2chr15

93569884

-CHD2chr15

93570051

+
3UTR-intronENST00000394196ENST00000554122CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-3UTRENST00000557381ENST00000394196CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000557381ENST00000557381CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000557381ENST00000420239CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000557381ENST00000536619CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000557381ENST00000554122CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-3UTRENST00000420239ENST00000394196CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000420239ENST00000557381CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000420239ENST00000420239CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000420239ENST00000536619CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000420239ENST00000554122CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-3UTRENST00000536619ENST00000394196CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000536619ENST00000557381CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000536619ENST00000420239CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000536619ENST00000536619CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000536619ENST00000554122CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-3UTRENST00000554122ENST00000394196CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000554122ENST00000557381CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000554122ENST00000420239CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000554122ENST00000536619CHD2chr15

93569884

-CHD2chr15

93570051

+
intron-intronENST00000554122ENST00000554122CHD2chr15

93569884

-CHD2chr15

93570051

+
Frame-shiftENST00000394196ENST00000394196CHD2chr15

93545548

+CHD2chr15

93540185

+
Frame-shiftENST00000394196ENST00000557381CHD2chr15

93545548

+CHD2chr15

93540185

+
5CDS-intronENST00000394196ENST00000420239CHD2chr15

93545548

+CHD2chr15

93540185

+
5CDS-intronENST00000394196ENST00000536619CHD2chr15

93545548

+CHD2chr15

93540185

+
5CDS-intronENST00000394196ENST00000554122CHD2chr15

93545548

+CHD2chr15

93540185

+
Frame-shiftENST00000557381ENST00000394196CHD2chr15

93545548

+CHD2chr15

93540185

+
Frame-shiftENST00000557381ENST00000557381CHD2chr15

93545548

+CHD2chr15

93540185

+
5CDS-intronENST00000557381ENST00000420239CHD2chr15

93545548

+CHD2chr15

93540185

+
5CDS-intronENST00000557381ENST00000536619CHD2chr15

93545548

+CHD2chr15

93540185

+
5CDS-intronENST00000557381ENST00000554122CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-3CDSENST00000420239ENST00000394196CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-3CDSENST00000420239ENST00000557381CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000420239ENST00000420239CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000420239ENST00000536619CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000420239ENST00000554122CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-3CDSENST00000536619ENST00000394196CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-3CDSENST00000536619ENST00000557381CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000536619ENST00000420239CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000536619ENST00000536619CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000536619ENST00000554122CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-3CDSENST00000554122ENST00000394196CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-3CDSENST00000554122ENST00000557381CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000554122ENST00000420239CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000554122ENST00000536619CHD2chr15

93545548

+CHD2chr15

93540185

+
intron-intronENST00000554122ENST00000554122CHD2chr15

93545548

+CHD2chr15

93540185

+

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FusionProtFeatures for CHD2_CHD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHD2

O14647

CHD2

O14647

DNA-binding helicase that specifically binds to thepromoter of target genes, leading to chromatin remodeling,possibly by promoting deposition of histone H3.3. Involved inmyogenesis via interaction with MYOD1: binds to myogenic generegulatory sequences and mediates incorporation of histone H3.3prior to the onset of myogenic gene expression, promoting theirexpression (By similarity). {ECO:0000250}. DNA-binding helicase that specifically binds to thepromoter of target genes, leading to chromatin remodeling,possibly by promoting deposition of histone H3.3. Involved inmyogenesis via interaction with MYOD1: binds to myogenic generegulatory sequences and mediates incorporation of histone H3.3prior to the onset of myogenic gene expression, promoting theirexpression (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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FusionGeneSequence for CHD2_CHD2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CHD2_CHD2


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
CHD2SIRT7, SRPK2, MID2, THAP1, TEKT1, TRIM41, BEND7, EED, CTR9, LEO1, PAF1, TAF9, UHRF2CHD2SIRT7, SRPK2, MID2, THAP1, TEKT1, TRIM41, BEND7, EED, CTR9, LEO1, PAF1, TAF9, UHRF2


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

RelatedDrugs for CHD2_CHD2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CHD2_CHD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHD2C0014544Epilepsy1CTD_human
HgeneCHD2C3809278EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET1UNIPROT
TgeneCHD2C0014544Epilepsy1CTD_human
TgeneCHD2C3809278EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET1UNIPROT