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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: 31412

FusionGeneSummary for RNF123_CHMP2B

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF123_CHMP2B
Fusion gene ID: 31412
HgeneTgene
Gene symbol

RNF123

CHMP2B

Gene ID

63891

25978

Gene namering finger protein 123charged multivesicular body protein 2B
SynonymsFP1477|KPC1ALS17|CHMP2.5|DMT1|VPS2-2|VPS2B
Cytomap

3p21.31

3p11.2

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF123Kip1 ubiquitination-promoting complex subunit 1RING-type E3 ubiquitin transferase RNF123kip1 ubiquitination-promoting complex protein 1charged multivesicular body protein 2bVPS2 homolog Bchromatin modifying protein 2Bvacuolar protein-sorting-associated protein 2-2
Modification date2018052320180523
UniProtAcc

Q5XPI4

Q9UQN3

Ensembl transtripts involved in fusion geneENST00000327697, ENST00000432042, 
ENST00000433785, ENST00000497099, 
ENST00000471660, ENST00000263780, 
ENST00000494980, ENST00000472024, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 2 X 3=18
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RNF123 [Title/Abstract] AND CHMP2B [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
TgeneCHMP2B

GO:0039702

viral budding via host ESCRT complex

24878737


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
TCGALDESCATCGA-R6-A8WG-01ARNF123chr3

49751607

+CHMP2Bchr3

87294864

+
* 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
Frame-shiftENST00000327697ENST00000471660RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
Frame-shiftENST00000327697ENST00000263780RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
Frame-shiftENST00000327697ENST00000494980RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
5CDS-3UTRENST00000327697ENST00000472024RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
intron-3CDSENST00000432042ENST00000471660RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
intron-3CDSENST00000432042ENST00000263780RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
intron-3CDSENST00000432042ENST00000494980RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
intron-3UTRENST00000432042ENST00000472024RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
Frame-shiftENST00000433785ENST00000471660RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
Frame-shiftENST00000433785ENST00000263780RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
Frame-shiftENST00000433785ENST00000494980RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
5CDS-3UTRENST00000433785ENST00000472024RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
intron-3CDSENST00000497099ENST00000471660RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
intron-3CDSENST00000497099ENST00000263780RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
intron-3CDSENST00000497099ENST00000494980RNF123chr3

49751607

+CHMP2Bchr3

87294864

+
intron-3UTRENST00000497099ENST00000472024RNF123chr3

49751607

+CHMP2Bchr3

87294864

+

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FusionProtFeatures for RNF123_CHMP2B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF123

Q5XPI4

CHMP2B

Q9UQN3

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. The ESCRT machinery also functions in topologicallyequivalent membrane fission events, such as the terminal stages ofcytokinesis and the budding of enveloped viruses (HIV-1 and otherlentiviruses). ESCRT-III proteins are believed to mediate thenecessary 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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FusionGeneSequence for RNF123_CHMP2B


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 RNF123_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
RNF123UBAC1, PMS1, CDKN1B, RAD21, SMAD9, SMAD2, PLOD2, UBE2W, MOV10, NXF1, BVES, ZNF277, RDH12, GNAZ, NDUFA10, CHIA, ALDH3B1, PNPLA1, C3orf58, INSL3, TACC3, KIF21A, PCDHB15, NFKB1, BAG6, ELAC2, INSL6, AKIRIN2, USP48, MAP3K6, A1BG, NSMF, LCMT2, PML, REG4, HYAL1, FUOM, RNASE3, UBC, UBE2A, IFIH1, RARRES3CHMP2BTRAF2, VHL, ATP5C1, SQSTM1, TERF2IP, USP8, USP54, CHMP2B, CHMP3, PNMA1, PHGDH, MALSU1, ATP6V1B1, CHMP2A, PAFAH1B1, CHMP4B, XPO1, MAD2L1, RAB5C, RAB7A, ATP6AP2, LTN1, GOLT1B, MYH14, SGOL1, CDH1, TMEM106B


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 RNF123_CHMP2B


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 RNF123_CHMP2B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF123C0011570Mental Depression2PSYGENET
HgeneRNF123C0011581Depressive disorder2PSYGENET
TgeneCHMP2BC1836076Amyotrophic Lateral Sclerosis, Chmp2B-Related2UNIPROT
TgeneCHMP2BC0002736Amyotrophic Lateral Sclerosis1CTD_human;HPO;ORPHANET
TgeneCHMP2BC0338451Frontotemporal dementia1CTD_human;HPO
TgeneCHMP2BC0751072Frontotemporal Lobar Degeneration1CTD_human
TgeneCHMP2BC1833296FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED1CTD_human;UNIPROT