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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: 7115

FusionGeneSummary for CHMP4B_FBXO34

check button Fusion gene summary
Fusion gene informationFusion gene name: CHMP4B_FBXO34
Fusion gene ID: 7115
HgeneTgene
Gene symbol

CHMP4B

FBXO34

Gene ID

128866

55030

Gene namecharged multivesicular body protein 4BF-box protein 34
SynonymsC20orf178|CHMP4A|CTPP3|CTRCT31|SNF7|SNF7-2|Shax1|VPS32B|Vps32-2|dJ553F4.4CGI-301|Fbx34
Cytomap

20q11.22

14q22.3

Type of geneprotein-codingprotein-coding
Descriptioncharged multivesicular body protein 4bSNF7 homolog associated with Alix 1Snf7 homologue associated with Alix 1chromatin modifying protein 4Bchromatin-modifying protein 4bhSnf7-2hVps32-2vacuolar protein-sorting-associated protein 32-2F-box only protein 34protein CGI-301
Modification date2018052220180519
UniProtAcc

Q9H444

Q9NWN3

Ensembl transtripts involved in fusion geneENST00000217402, ENST00000313833, 
ENST00000555087, ENST00000440021, 
Fusion gene scores* DoF score8 X 4 X 6=1925 X 5 X 2=50
# samples 115
** MAII scorelog2(11/192*10)=-0.803602787196497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: CHMP4B [Title/Abstract] AND FBXO34 [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
HgeneCHMP4B

GO:0039702

viral budding via host ESCRT complex

24878737

HgeneCHMP4B

GO:0051260

protein homooligomerization

18209100


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
ChiTaRS3.1BU624572CHMP4Bchr20

32399341

-FBXO34chr14

55766161

+
* 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
5CDS-intronENST00000217402ENST00000313833CHMP4Bchr20

32399341

-FBXO34chr14

55766161

+
5CDS-intronENST00000217402ENST00000555087CHMP4Bchr20

32399341

-FBXO34chr14

55766161

+
5CDS-intronENST00000217402ENST00000440021CHMP4Bchr20

32399341

-FBXO34chr14

55766161

+

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FusionProtFeatures for CHMP4B_FBXO34


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHMP4B

Q9H444

FBXO34

Q9NWN3

Probable core component of the endosomal sortingrequired for transport complex III (ESCRT-III) which is involvedin multivesicular bodies (MVBs) formation and sorting of endosomalcargo proteins into MVBs. MVBs contain intraluminal vesicles(ILVs) that are generated by invagination and scission from thelimiting membrane of the endosome and mostly are delivered tolysosomes enabling degradation of membrane proteins, such asstimulated growth factor receptors, lysosomal enzymes and lipids.The MVB pathway appears to require the sequential function ofESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostlydissociate from the invaginating membrane before the ILV isreleased (PubMed:12860994, PubMed:18209100). The ESCRT machineryalso functions in topologically equivalent membrane fissionevents, such as the terminal stages of cytokinesis(PubMed:21310966). Together with SPAST, the ESCRT-III complexpromotes nuclear envelope sealing and mitotic spindle disassemblyduring late anaphase (PubMed:26040712). Plays a role in theendosomal sorting pathway. ESCRT-III proteins are believed tomediate the necessary vesicle extrusion and/or membrane fissionactivities, possibly in conjunction with the AAA ATPase VPS4. Whenoverexpressed, membrane-assembled circular arrays of CHMP4Bfilaments can promote or stabilize negative curvature and outwardbudding. CHMP4A/B/C are required for the exosomal release ofSDCBP, CD63 and syndecan (PubMed:22660413).{ECO:0000269|PubMed:12860994, ECO:0000269|PubMed:18209100,ECO:0000269|PubMed:21310966, ECO:0000269|PubMed:22660413,ECO:0000269|PubMed:26040712}. (Microbial infection) The ESCRT machinery also functionsin topologically equivalent membrane fission events, such as thebudding of enveloped viruses (HIV-1 and other lentiviruses). Viaits interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release. {ECO:0000269|PubMed:14505569,ECO:0000269|PubMed:14505570, ECO:0000269|PubMed:14519844,ECO:0000269|PubMed:22422861}. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. {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 CHMP4B_FBXO34


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 CHMP4B_FBXO34


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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RelatedDrugs for CHMP4B_FBXO34


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 CHMP4B_FBXO34


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHMP4BC1854311Cataract, posterior polar, 31CTD_human;UNIPROT