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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: 7025

FusionGeneSummary for CHD8_CBLN3

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD8_CBLN3
Fusion gene ID: 7025
HgeneTgene
Gene symbol

CHD8

CBLN3

Gene ID

57680

643866

Gene namechromodomain helicase DNA binding protein 8cerebellin 3 precursor
SynonymsAUTS18|HELSNF1PRO1486
Cytomap

14q11.2

14q12

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1cerebellin-3
Modification date2018051920180329
UniProtAcc

Q9HCK8

Q6UW01

Ensembl transtripts involved in fusion geneENST00000430710, ENST00000399982, 
ENST00000557364, ENST00000555962, 
ENST00000267406, ENST00000555436, 
Fusion gene scores* DoF score9 X 8 X 8=5761 X 1 X 1=1
# samples 111
** MAII scorelog2(11/576*10)=-2.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: CHD8 [Title/Abstract] AND CBLN3 [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
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
TCGALDKICHTCGA-KL-8339-01ACHD8chr14

21860710

-CBLN3chr14

24900128

-
* 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-intronENST00000430710ENST00000267406CHD8chr14

21860710

-CBLN3chr14

24900128

-
intron-5UTRENST00000430710ENST00000555436CHD8chr14

21860710

-CBLN3chr14

24900128

-
intron-intronENST00000399982ENST00000267406CHD8chr14

21860710

-CBLN3chr14

24900128

-
intron-5UTRENST00000399982ENST00000555436CHD8chr14

21860710

-CBLN3chr14

24900128

-
intron-intronENST00000557364ENST00000267406CHD8chr14

21860710

-CBLN3chr14

24900128

-
intron-5UTRENST00000557364ENST00000555436CHD8chr14

21860710

-CBLN3chr14

24900128

-
intron-intronENST00000555962ENST00000267406CHD8chr14

21860710

-CBLN3chr14

24900128

-
intron-5UTRENST00000555962ENST00000555436CHD8chr14

21860710

-CBLN3chr14

24900128

-

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FusionProtFeatures for CHD8_CBLN3


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

Q9HCK8

CBLN3

Q6UW01

May be involved in synaptic functions in the CNS.{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 CHD8_CBLN3


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_CBLN3


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, UHRF2CBLN3


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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RelatedDrugs for CHD8_CBLN3


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_CBLN3


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