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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:CHD8-HNRNPC (FusionGDB2 ID:16388)

Fusion Gene Summary for CHD8-HNRNPC

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD8-HNRNPC
Fusion gene ID: 16388
HgeneTgene
Gene symbol

CHD8

HNRNPC

Gene ID

57680

3183

Gene namechromodomain helicase DNA binding protein 8heterogeneous nuclear ribonucleoprotein C
SynonymsAUTS18|HELSNF1C1|C2|HNRNP|HNRPC|SNRPC
Cytomap

14q11.2

14q11.2

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1heterogeneous nuclear ribonucleoproteins C1/C2heterogeneous nuclear ribonucleoprotein C (C1/C2)hnRNP C1/C2nuclear ribonucleoprotein particle C1 proteinnuclear ribonucleoprotein particle C2 protein
Modification date2020032920200322
UniProtAcc

Q9HCK8

P07910

Ensembl transtripts involved in fusion geneENST00000557364, ENST00000430710, 
ENST00000555962, ENST00000399982, 
ENST00000320084, ENST00000336053, 
ENST00000420743, ENST00000430246, 
ENST00000449098, ENST00000553300, 
ENST00000553753, ENST00000554455, 
ENST00000554969, ENST00000555309, 
ENST00000555883, ENST00000555914, 
ENST00000556142, ENST00000556513, 
ENST00000556628, ENST00000556897, 
ENST00000557201, 
Fusion gene scores* DoF score12 X 12 X 10=144017 X 11 X 5=935
# samples 1820
** MAII scorelog2(18/1440*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/935*10)=-2.22496636500027
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointCHD8(21924191)-HNRNPC(21681276), # samples:2
HNRNPC(21698478)-CHD8(21854335), # samples:2
Anticipated loss of major functional domain due to fusion event.HNRNPC-CHD8 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HNRNPC-CHD8 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
HNRNPC-CHD8 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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:0045893

positive regulation of transcription, DNA-templated

17938208

HgeneCHD8

GO:0090090

negative regulation of canonical Wnt signaling pathway

18378692|22083958


check buttonFusion gene breakpoints across CHD8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HNRNPC (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4STADTCGA-HU-A4G3-01ACHD8chr14

21924191

-HNRNPCchr14

21702388

-
ChimerDB4THCATCGA-EM-A4FQCHD8chr14

21905352

-HNRNPCchr14

21702388

-
ChiTaRS5.0N/AAW580253CHD8chr14

21924191

-HNRNPCchr14

21681276

-
ChiTaRS5.0N/AAW606834CHD8chr14

21924191

-HNRNPCchr14

21681276

-


Top

Fusion Gene ORF analysis for CHD8-HNRNPC

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
5UTR-3CDSENST00000557364ENST00000320084CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000336053CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000420743CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000430246CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000449098CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000553300CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000553753CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000554455CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000554969CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000555309CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000555883CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000555914CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000556142CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000556513CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000556628CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000556897CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-3CDSENST00000557364ENST00000557201CHD8chr14

21924191

-HNRNPCchr14

21681276

-
5UTR-5UTRENST00000430710ENST00000320084CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000336053CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000420743CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000430246CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000449098CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000553300CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000553753CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000554455CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000554969CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000555309CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000555883CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000555914CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000556142CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000556513CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000556628CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000556897CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000430710ENST00000557201CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000320084CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000336053CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000420743CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000430246CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000449098CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000553300CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000553753CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000554455CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000554969CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000555309CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000555883CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000555914CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000556142CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000556513CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000556628CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000556897CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000555962ENST00000557201CHD8chr14

21905352

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000320084CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000336053CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000420743CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000430246CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000449098CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000553300CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000553753CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000554455CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000554969CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000555309CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000555883CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000555914CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000556142CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000556513CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000556628CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000556897CHD8chr14

21924191

-HNRNPCchr14

21702388

-
5UTR-5UTRENST00000557364ENST00000557201CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-3CDSENST00000399982ENST00000320084CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000336053CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000420743CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000430246CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000449098CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000553300CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000553753CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000554455CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000554969CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000555309CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000555883CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000555914CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000556142CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000556513CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000556628CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000556897CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000399982ENST00000557201CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000320084CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000336053CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000420743CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000430246CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000449098CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000553300CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000553753CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000554455CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000554969CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000555309CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000555883CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000555914CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000556142CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000556513CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000556628CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000556897CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000430710ENST00000557201CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000320084CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000336053CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000420743CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000430246CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000449098CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000553300CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000553753CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000554455CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000554969CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000555309CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000555883CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000555914CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000556142CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000556513CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000556628CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000556897CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-3CDSENST00000555962ENST00000557201CHD8chr14

21924191

-HNRNPCchr14

21681276

-
intron-5UTRENST00000399982ENST00000320084CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000320084CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000336053CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000336053CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000420743CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000420743CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000430246CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000430246CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000449098CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000449098CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000553300CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000553300CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000553753CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000553753CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000554455CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000554455CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000554969CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000554969CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000555309CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000555309CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000555883CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000555883CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000555914CHD8chr14

21924191

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000555914CHD8chr14

21905352

-HNRNPCchr14

21702388

-
intron-5UTRENST00000399982ENST00000556142CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000556142CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000556513CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000556513CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000556628CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000556628CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000556897CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000556897CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000557201CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000399982ENST00000557201CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000320084CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000336053CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000420743CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000430246CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000449098CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000553300CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000553753CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000554455CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000554969CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000555309CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000555883CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000555914CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000556142CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000556513CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000556628CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000556897CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000430710ENST00000557201CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000320084CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000336053CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000420743CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000430246CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000449098CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000553300CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000553753CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000554455CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000554969CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000555309CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000555883CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000555914CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000556142CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000556513CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000556628CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000556897CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000555962ENST00000557201CHD8chr14

21924191

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000320084CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000336053CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000420743CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000430246CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000449098CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000553300CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000553753CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000554455CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000554969CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000555309CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000555883CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000555914CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000556142CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000556513CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000556628CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000556897CHD8chr14

21905352

-HNRNPCchr14

21702388

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intron-5UTRENST00000557364ENST00000557201CHD8chr14

21905352

-HNRNPCchr14

21702388

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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 CHD8-HNRNPC


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for CHD8-HNRNPC


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/:21924191/:21681276)
- 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
CHD8

Q9HCK8

HNRNPC

P07910

FUNCTION: DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. {ECO:0000255|HAMAP-Rule:MF_03071, ECO:0000269|PubMed:17938208, ECO:0000269|PubMed:18378692}.FUNCTION: Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles (PubMed:8264621). Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules (PubMed:12509468, PubMed:16010978, PubMed:7567451, PubMed:8264621). Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides (PubMed:8264621). May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', facilitating binding of HNRNPC, leading to regulation of mRNA splicing (PubMed:25719671). {ECO:0000269|PubMed:12509468, ECO:0000269|PubMed:16010978, ECO:0000269|PubMed:25719671, ECO:0000269|PubMed:7567451, ECO:0000269|PubMed:8264621}.

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 CHD8-HNRNPC


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 CHD8-HNRNPC


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 CHD8-HNRNPC


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 CHD8-HNRNPC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource