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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: 7032

FusionGeneSummary for CHD8_TOX4

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD8_TOX4
Fusion gene ID: 7032
HgeneTgene
Gene symbol

CHD8

TOX4

Gene ID

57680

9878

Gene namechromodomain helicase DNA binding protein 8TOX high mobility group box family member 4
SynonymsAUTS18|HELSNF1C14orf92|KIAA0737|LCP1|MIG7
Cytomap

14q11.2

14q11.2

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1TOX high mobility group box family member 4epidermal Langerhans cell protein LCP1migration-inducing protein 7
Modification date2018051920180522
UniProtAcc

Q9HCK8

O94842

Ensembl transtripts involved in fusion geneENST00000430710, ENST00000399982, 
ENST00000557364, ENST00000555962, 
ENST00000405508, ENST00000262709, 
ENST00000448790, ENST00000494242, 
Fusion gene scores* DoF score9 X 8 X 8=5763 X 4 X 3=36
# samples 114
** MAII scorelog2(11/576*10)=-2.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CHD8 [Title/Abstract] AND TOX4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTranscription factor involved fusion gene, inframe and retained DNA-binding domain.
* 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
HgeneCHD8

GO:0030178

negative regulation of Wnt signaling pathway

18378692

HgeneCHD8

GO:0045893

positive regulation of transcription, DNA-templated

17938208

HgeneCHD8

GO:0060070

canonical Wnt signaling pathway

18378692

HgeneCHD8

GO:0090090

negative regulation of canonical Wnt signaling pathway

22083958


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
TCGARVBRCATCGA-AO-A128-01ACHD8chr14

21898960

-TOX4chr14

21957332

+
TCGALDLUSCTCGA-66-2786-01ACHD8chr14

21867761

-TOX4chr14

21955610

+
* 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
intron-3CDSENST00000430710ENST00000405508CHD8chr14

21898960

-TOX4chr14

21957332

+
intron-3CDSENST00000430710ENST00000262709CHD8chr14

21898960

-TOX4chr14

21957332

+
intron-3CDSENST00000430710ENST00000448790CHD8chr14

21898960

-TOX4chr14

21957332

+
intron-intronENST00000430710ENST00000494242CHD8chr14

21898960

-TOX4chr14

21957332

+
In-frameENST00000399982ENST00000405508CHD8chr14

21898960

-TOX4chr14

21957332

+
In-frameENST00000399982ENST00000262709CHD8chr14

21898960

-TOX4chr14

21957332

+
In-frameENST00000399982ENST00000448790CHD8chr14

21898960

-TOX4chr14

21957332

+
5CDS-intronENST00000399982ENST00000494242CHD8chr14

21898960

-TOX4chr14

21957332

+
Frame-shiftENST00000557364ENST00000405508CHD8chr14

21898960

-TOX4chr14

21957332

+
Frame-shiftENST00000557364ENST00000262709CHD8chr14

21898960

-TOX4chr14

21957332

+
Frame-shiftENST00000557364ENST00000448790CHD8chr14

21898960

-TOX4chr14

21957332

+
5CDS-intronENST00000557364ENST00000494242CHD8chr14

21898960

-TOX4chr14

21957332

+
intron-3CDSENST00000555962ENST00000405508CHD8chr14

21898960

-TOX4chr14

21957332

+
intron-3CDSENST00000555962ENST00000262709CHD8chr14

21898960

-TOX4chr14

21957332

+
intron-3CDSENST00000555962ENST00000448790CHD8chr14

21898960

-TOX4chr14

21957332

+
intron-intronENST00000555962ENST00000494242CHD8chr14

21898960

-TOX4chr14

21957332

+
In-frameENST00000430710ENST00000405508CHD8chr14

21867761

-TOX4chr14

21955610

+
In-frameENST00000430710ENST00000262709CHD8chr14

21867761

-TOX4chr14

21955610

+
In-frameENST00000430710ENST00000448790CHD8chr14

21867761

-TOX4chr14

21955610

+
5CDS-3UTRENST00000430710ENST00000494242CHD8chr14

21867761

-TOX4chr14

21955610

+
Frame-shiftENST00000399982ENST00000405508CHD8chr14

21867761

-TOX4chr14

21955610

+
Frame-shiftENST00000399982ENST00000262709CHD8chr14

21867761

-TOX4chr14

21955610

+
Frame-shiftENST00000399982ENST00000448790CHD8chr14

21867761

-TOX4chr14

21955610

+
5CDS-3UTRENST00000399982ENST00000494242CHD8chr14

21867761

-TOX4chr14

21955610

+
Frame-shiftENST00000557364ENST00000405508CHD8chr14

21867761

-TOX4chr14

21955610

+
Frame-shiftENST00000557364ENST00000262709CHD8chr14

21867761

-TOX4chr14

21955610

+
Frame-shiftENST00000557364ENST00000448790CHD8chr14

21867761

-TOX4chr14

21955610

+
5CDS-3UTRENST00000557364ENST00000494242CHD8chr14

21867761

-TOX4chr14

21955610

+
5UTR-3CDSENST00000555962ENST00000405508CHD8chr14

21867761

-TOX4chr14

21955610

+
5UTR-3CDSENST00000555962ENST00000262709CHD8chr14

21867761

-TOX4chr14

21955610

+
5UTR-3CDSENST00000555962ENST00000448790CHD8chr14

21867761

-TOX4chr14

21955610

+
5UTR-3UTRENST00000555962ENST00000494242CHD8chr14

21867761

-TOX4chr14

21955610

+

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FusionProtFeatures for CHD8_TOX4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHD8

Q9HCK8

TOX4

O94842

Component of the PTW/PP1 phosphatase complex, whichplays a role in the control of chromatin structure and cell cycleprogression during the transition from mitosis into interphase.{ECO:0000269|PubMed:20516061}.

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
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-2537292_41016402582Compositional biasGln-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-2638292_41013612303Compositional biasGln-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-2638292_41016402582Compositional biasGln-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-25371137_128816402582DomainHelicase C-terminal
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-2537642_70916402582DomainChromo 1
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-2537724_79016402582DomainChromo 2
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-2537823_99716402582DomainHelicase ATP-binding
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-26381137_128813612303DomainHelicase C-terminal
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-2638642_70913612303DomainChromo 1
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-2638724_79013612303DomainChromo 2
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-2638823_99713612303DomainHelicase ATP-binding
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-26381137_128816402582DomainHelicase C-terminal
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-2638642_70916402582DomainChromo 1
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-2638724_79016402582DomainChromo 2
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-2638823_99716402582DomainHelicase ATP-binding
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-2537948_95116402582MotifDEAH box
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-2638948_95113612303MotifDEAH box
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-2638948_95116402582MotifDEAH box
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-2537836_84316402582Nucleotide bindingATP
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-2638836_84313612303Nucleotide bindingATP
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-2638836_84316402582Nucleotide bindingATP
TgeneTOX4chr14:21867761chr14:21955610ENST00000262709+19401_53425622Compositional biasNote=Gln/Pro-rich
TgeneTOX4chr14:21867761chr14:21955610ENST00000262709+19426_43425622Compositional biasNote=Poly-Ala
TgeneTOX4chr14:21867761chr14:21955610ENST00000405508+210401_53425622Compositional biasNote=Gln/Pro-rich
TgeneTOX4chr14:21867761chr14:21955610ENST00000405508+210426_43425622Compositional biasNote=Poly-Ala
TgeneTOX4chr14:21867761chr14:21955610ENST00000262709+19223_29125622DNA bindingHMG box
TgeneTOX4chr14:21867761chr14:21955610ENST00000405508+210223_29125622DNA bindingHMG box
TgeneTOX4chr14:21867761chr14:21955610ENST00000262709+19213_21825622MotifNuclear localization signal
TgeneTOX4chr14:21867761chr14:21955610ENST00000405508+210213_21825622MotifNuclear localization signal

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-25372069_209816402582Compositional biasSer-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-25372493_250816402582Compositional biasHis-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-25372539_258116402582Compositional biasAsp-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-26382069_209813612303Compositional biasSer-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-26382493_250813612303Compositional biasHis-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-26382539_258113612303Compositional biasAsp-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-26382069_209816402582Compositional biasSer-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-26382493_250816402582Compositional biasHis-rich
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-26382539_258116402582Compositional biasAsp-rich


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FusionGeneSequence for CHD8_TOX4


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 CHD8_TOX4


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
CHD8TOP3B, TCERG1, CTCF, ZNF143, CTDP1, WDR5, CTNNB1, TP53, CASR, ASH2L, RBBP5, CREB1, USF1, TERF1, TERF2, AR, SIRT7, SMAD3, CHD7, SOX2, LMNA, RCHY1, NXF1, PSME3, SPINT2, RFPL4B, CARD8, AP2M1, PSMC3, FBXW11, U2AF2, WDR18, DYNLT1, CDC27, KPNA1, UHRF1BP1L, KPNA6, MSH6, KPNB1, TUBGCP4, RAB4B, ALDH1L2, ZNF707, USP37, SNW1, CDC5L, WHSC1L1, BRD4, IKZF5, YAF2, NFATC2IP, PIP4K2A, PCDH20, XAGE1B, TBL1Y, NCAPH2, UHRF2TOX4CREB1, WDR82, PPP1CA, PPP1CB, PPP1CC, TOX4, PPP1R10, HSPA4, VIM, TERF1, TERF2, ELAVL1, ATXN1, SRSF11, FTL, SF3A1, SF3B2, STRN4, SF3A3, FGFR1OP2, SF3B1, SF3B5, ZNF512B, HIPK3, LMNA, CCBE1, EXOSC10, TBX6, HUWE1, BANP, MYL7, FNDC3B, GEMIN6, ZMYND19, PPP1R3A, HSPB1, STK17B, CTR9, PPP1R21, HNRNPA1L2, KDM5C, SNW1, TOX2, KLK7, IFNA13, SERPINB8, SERPINA12, CST6, A2ML1, KPRP, ALOX12B, TXNIP


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
HgeneCHD8chr14:21867761chr14:21955610ENST00000399982-25371789_230216402582FAM124B
HgeneCHD8chr14:21867761chr14:21955610ENST00000430710-26381789_230213612303FAM124B
HgeneCHD8chr14:21867761chr14:21955610ENST00000557364-26381789_230216402582FAM124B


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CHD8_TOX4


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 CHD8_TOX4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHD8C0004352Autistic Disorder1CTD_human
HgeneCHD8C0017178Gastrointestinal Diseases1CTD_human
HgeneCHD8C0221355Macrocephaly1CTD_human
HgeneCHD8C1510586Autism Spectrum Disorders1CTD_human