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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-CHMP2B (FusionGDB2 ID:16403)

Fusion Gene Summary for CHD9-CHMP2B

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD9-CHMP2B
Fusion gene ID: 16403
HgeneTgene
Gene symbol

CHD9

CHMP2B

Gene ID

80205

25978

Gene namechromodomain helicase DNA binding protein 9charged multivesicular body protein 2B
SynonymsAD013|CHD-9|CReMM|KISH2|PRIC320ALS17|CHMP2.5|DMT1|VPS2-2|VPS2B
Cytomap

16q12.2

3p11.2

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 pcharged multivesicular body protein 2bVPS2 homolog Bchromatin modifying protein 2Bvacuolar protein-sorting-associated protein 2-2
Modification date2020032020200313
UniProtAcc

Q3L8U1

Q9UQN3

Ensembl transtripts involved in fusion geneENST00000398510, ENST00000447540, 
ENST00000564582, ENST00000564845, 
ENST00000566029, 
ENST00000263780, 
ENST00000471660, ENST00000472024, 
ENST00000494980, 
Fusion gene scores* DoF score13 X 9 X 6=7025 X 5 X 3=75
# samples 136
** MAII scorelog2(13/702*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHD9 [Title/Abstract] AND CHMP2B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHD9(53282459)-CHMP2B(87304643), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneCHMP2B

GO:0039702

viral budding via host ESCRT complex

24878737


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 CHMP2B (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
ChiTaRS5.0N/ABM150020CHD9chr16

53282459

+CHMP2Bchr3

87304643

-


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Fusion Gene ORF analysis for CHD9-CHMP2B

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-3UTRENST00000398510ENST00000263780CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-3UTRENST00000447540ENST00000263780CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-3UTRENST00000564582ENST00000263780CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-3UTRENST00000564845ENST00000263780CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-3UTRENST00000566029ENST00000263780CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000398510ENST00000471660CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000398510ENST00000472024CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000398510ENST00000494980CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000447540ENST00000471660CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000447540ENST00000472024CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000447540ENST00000494980CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000564582ENST00000471660CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000564582ENST00000472024CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000564582ENST00000494980CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000564845ENST00000471660CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000564845ENST00000472024CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000564845ENST00000494980CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000566029ENST00000471660CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000566029ENST00000472024CHD9chr16

53282459

+CHMP2Bchr3

87304643

-
intron-intronENST00000566029ENST00000494980CHD9chr16

53282459

+CHMP2Bchr3

87304643

-

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-CHMP2B


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-CHMP2B


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/:53282459/:87304643)
- 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

CHMP2B

Q9UQN3

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: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.

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-CHMP2B


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-CHMP2B


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-CHMP2B


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-CHMP2B


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