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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:CHD9-DLC1 (FusionGDB2 ID:16404)

Fusion Gene Summary for CHD9-DLC1

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD9-DLC1
Fusion gene ID: 16404
HgeneTgene
Gene symbol

CHD9

DLC1

Gene ID

80205

10395

Gene namechromodomain helicase DNA binding protein 9DLC1 Rho GTPase activating protein
SynonymsAD013|CHD-9|CReMM|KISH2|PRIC320ARHGAP7|HP|STARD12|p122-RhoGAP
Cytomap

16q12.2

8p22

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 9ATP-dependent helicase CHD9PPAR-alpha-interacting complex protein 320 kDaPPAR{gamma}-interacting cofactor 320 kDachromatin remodeling factor CHROM1chromatin-related mesenchymal modulatorciprofibrate bound prho GTPase-activating protein 7Rho-GTPase-activating protein 7START domain-containing protein 12StAR-related lipid transfer (START) domain containing 12deleted in liver cancer 1 proteindeleted in liver cancer 1 variant 2deleted in liver cancer varia
Modification date2020032020200313
UniProtAcc

Q3L8U1

Q96QB1

Ensembl transtripts involved in fusion geneENST00000398510, ENST00000447540, 
ENST00000564845, ENST00000566029, 
ENST00000564582, 
ENST00000316609, 
ENST00000358919, ENST00000510318, 
ENST00000511869, ENST00000512044, 
ENST00000520226, ENST00000276297, 
Fusion gene scores* DoF score13 X 9 X 6=70217 X 14 X 5=1190
# samples 1319
** MAII scorelog2(13/702*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1190*10)=-2.64689024986436
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHD9 [Title/Abstract] AND DLC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHD9(53308214)-DLC1(13162811), # samples:1
Anticipated loss of major functional domain due to fusion event.CHD9-DLC1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CHD9-DLC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CHD9-DLC1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneDLC1

GO:0006915

apoptotic process

17292327

TgeneDLC1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17888903

TgeneDLC1

GO:0008285

negative regulation of cell proliferation

12545165|17932950

TgeneDLC1

GO:0030336

negative regulation of cell migration

17932950|19158340

TgeneDLC1

GO:0035307

positive regulation of protein dephosphorylation

17292327

TgeneDLC1

GO:0051497

negative regulation of stress fiber assembly

17932950

TgeneDLC1

GO:0051895

negative regulation of focal adhesion assembly

19158340

TgeneDLC1

GO:1900119

positive regulation of execution phase of apoptosis

17888903


check buttonFusion gene breakpoints across CHD9 (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 DLC1 (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
ChimerDB4BRCATCGA-AR-A1AN-01ACHD9chr16

53308214

-DLC1chr8

13162811

-


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Fusion Gene ORF analysis for CHD9-DLC1

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-intronENST00000398510ENST00000316609CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000398510ENST00000358919CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000398510ENST00000510318CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000398510ENST00000511869CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000398510ENST00000512044CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000398510ENST00000520226CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000447540ENST00000316609CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000447540ENST00000358919CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000447540ENST00000510318CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000447540ENST00000511869CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000447540ENST00000512044CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000447540ENST00000520226CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000564845ENST00000316609CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000564845ENST00000358919CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000564845ENST00000510318CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000564845ENST00000511869CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000564845ENST00000512044CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000564845ENST00000520226CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000566029ENST00000316609CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000566029ENST00000358919CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000566029ENST00000510318CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000566029ENST00000511869CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000566029ENST00000512044CHD9chr16

53308214

-DLC1chr8

13162811

-
5CDS-intronENST00000566029ENST00000520226CHD9chr16

53308214

-DLC1chr8

13162811

-
Frame-shiftENST00000398510ENST00000276297CHD9chr16

53308214

-DLC1chr8

13162811

-
Frame-shiftENST00000447540ENST00000276297CHD9chr16

53308214

-DLC1chr8

13162811

-
Frame-shiftENST00000564845ENST00000276297CHD9chr16

53308214

-DLC1chr8

13162811

-
Frame-shiftENST00000566029ENST00000276297CHD9chr16

53308214

-DLC1chr8

13162811

-
intron-3CDSENST00000564582ENST00000276297CHD9chr16

53308214

-DLC1chr8

13162811

-
intron-intronENST00000564582ENST00000316609CHD9chr16

53308214

-DLC1chr8

13162811

-
intron-intronENST00000564582ENST00000358919CHD9chr16

53308214

-DLC1chr8

13162811

-
intron-intronENST00000564582ENST00000510318CHD9chr16

53308214

-DLC1chr8

13162811

-
intron-intronENST00000564582ENST00000511869CHD9chr16

53308214

-DLC1chr8

13162811

-
intron-intronENST00000564582ENST00000512044CHD9chr16

53308214

-DLC1chr8

13162811

-
intron-intronENST00000564582ENST00000520226CHD9chr16

53308214

-DLC1chr8

13162811

-

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 CHD9-DLC1


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 CHD9-DLC1


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/:53308214/:13162811)
- 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
CHD9

Q3L8U1

DLC1

Q96QB1

FUNCTION: Acts as a transcriptional coactivator for PPARA and possibly other nuclear receptors. Proposed to be a ATP-dependent chromatin remodeling protein. Has DNA-dependent ATPase activity and binds to A/T-rich DNA. Associates with A/T-rich regulatory regions in promoters of genes that participate in the differentiation of progenitors during osteogenesis (By similarity). {ECO:0000250, ECO:0000269|PubMed:16095617, ECO:0000269|PubMed:16554032}.FUNCTION: Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality. {ECO:0000269|PubMed:18786931, ECO:0000269|PubMed:19170769, ECO:0000269|PubMed:19710422}.

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 CHD9-DLC1


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 CHD9-DLC1


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 CHD9-DLC1


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 CHD9-DLC1


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