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Fusion gene ID: 31412 |
FusionGeneSummary for RNF123_CHMP2B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RNF123_CHMP2B | Fusion gene ID: 31412 | Hgene | Tgene | Gene symbol | RNF123 | CHMP2B | Gene ID | 63891 | 25978 |
| Gene name | ring finger protein 123 | charged multivesicular body protein 2B | |
| Synonyms | FP1477|KPC1 | ALS17|CHMP2.5|DMT1|VPS2-2|VPS2B | |
| Cytomap | 3p21.31 | 3p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF123Kip1 ubiquitination-promoting complex subunit 1RING-type E3 ubiquitin transferase RNF123kip1 ubiquitination-promoting complex protein 1 | charged multivesicular body protein 2bVPS2 homolog Bchromatin modifying protein 2Bvacuolar protein-sorting-associated protein 2-2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q5XPI4 | Q9UQN3 | |
| Ensembl transtripts involved in fusion gene | ENST00000327697, ENST00000432042, ENST00000433785, ENST00000497099, | ENST00000471660, ENST00000263780, ENST00000494980, ENST00000472024, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 2 X 3=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | CHMP2B | GO:0039702 | viral budding via host ESCRT complex | 24878737 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | ESCA | TCGA-R6-A8WG-01A | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000327697 | ENST00000471660 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| Frame-shift | ENST00000327697 | ENST00000263780 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| Frame-shift | ENST00000327697 | ENST00000494980 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| 5CDS-3UTR | ENST00000327697 | ENST00000472024 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| intron-3CDS | ENST00000432042 | ENST00000471660 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| intron-3CDS | ENST00000432042 | ENST00000263780 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| intron-3CDS | ENST00000432042 | ENST00000494980 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| intron-3UTR | ENST00000432042 | ENST00000472024 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| Frame-shift | ENST00000433785 | ENST00000471660 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| Frame-shift | ENST00000433785 | ENST00000263780 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| Frame-shift | ENST00000433785 | ENST00000494980 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| 5CDS-3UTR | ENST00000433785 | ENST00000472024 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| intron-3CDS | ENST00000497099 | ENST00000471660 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| intron-3CDS | ENST00000497099 | ENST00000263780 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| intron-3CDS | ENST00000497099 | ENST00000494980 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
| intron-3UTR | ENST00000497099 | ENST00000472024 | RNF123 | chr3 | 49751607 | + | CHMP2B | chr3 | 87294864 | + |
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FusionProtFeatures for RNF123_CHMP2B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RNF123 | CHMP2B |
| 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. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RNF123_CHMP2B |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| RNF123 | UBAC1, 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, RARRES3 | CHMP2B | TRAF2, 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 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RNF123_CHMP2B |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RNF123_CHMP2B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RNF123 | C0011570 | Mental Depression | 2 | PSYGENET |
| Hgene | RNF123 | C0011581 | Depressive disorder | 2 | PSYGENET |
| Tgene | CHMP2B | C1836076 | Amyotrophic Lateral Sclerosis, Chmp2B-Related | 2 | UNIPROT |
| Tgene | CHMP2B | C0002736 | Amyotrophic Lateral Sclerosis | 1 | CTD_human;HPO;ORPHANET |
| Tgene | CHMP2B | C0338451 | Frontotemporal dementia | 1 | CTD_human;HPO |
| Tgene | CHMP2B | C0751072 | Frontotemporal Lobar Degeneration | 1 | CTD_human |
| Tgene | CHMP2B | C1833296 | FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED | 1 | CTD_human;UNIPROT |
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