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Fusion gene ID: 9104 |
FusionGeneSummary for CYB5R3_RBX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CYB5R3_RBX1 | Fusion gene ID: 9104 | Hgene | Tgene | Gene symbol | CYB5R3 | RBX1 | Gene ID | 1727 | 9978 |
| Gene name | cytochrome b5 reductase 3 | ring-box 1 | |
| Synonyms | B5R|DIA1 | BA554C12.1|RNF75|ROC1 | |
| Cytomap | 22q13.2 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | NADH-cytochrome b5 reductase 3NADH-cytochrome b5 reductase 3 membrane-bound formNADH-cytochrome b5 reductase 3 soluble formdiaphorase-1mutant NADH-cytochrome b5 reductase | E3 ubiquitin-protein ligase RBX1E3 ubiquitin-protein transferase RBX1RING finger protein 75RING-box protein 1ZYP proteinregulator of cullins 1ring-box 1, E3 ubiquitin protein ligase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P00387 | P62877 | |
| Ensembl transtripts involved in fusion gene | ENST00000361740, ENST00000396303, ENST00000352397, ENST00000407623, ENST00000407332, ENST00000402438, | ENST00000216225, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 4 X 5=120 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CYB5R3 [Title/Abstract] AND RBX1 [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 | RBX1 | GO:0006513 | protein monoubiquitination | 22358839 |
| Tgene | RBX1 | GO:0016567 | protein ubiquitination | 15103331|17543862|20389280 |
| Tgene | RBX1 | GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 15103331 |
| Tgene | RBX1 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 20389280 |
| Tgene | RBX1 | GO:0045116 | protein neddylation | 19250909 |
| 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 | SKCM | TCGA-FS-A4F4-06A | CYB5R3 | chr22 | 43015843 | - | RBX1 | chr22 | 41360051 | + |
| * 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 |
| intron-3CDS | ENST00000361740 | ENST00000216225 | CYB5R3 | chr22 | 43015843 | - | RBX1 | chr22 | 41360051 | + |
| intron-3CDS | ENST00000396303 | ENST00000216225 | CYB5R3 | chr22 | 43015843 | - | RBX1 | chr22 | 41360051 | + |
| intron-3CDS | ENST00000352397 | ENST00000216225 | CYB5R3 | chr22 | 43015843 | - | RBX1 | chr22 | 41360051 | + |
| intron-3CDS | ENST00000407623 | ENST00000216225 | CYB5R3 | chr22 | 43015843 | - | RBX1 | chr22 | 41360051 | + |
| intron-3CDS | ENST00000407332 | ENST00000216225 | CYB5R3 | chr22 | 43015843 | - | RBX1 | chr22 | 41360051 | + |
| intron-3CDS | ENST00000402438 | ENST00000216225 | CYB5R3 | chr22 | 43015843 | - | RBX1 | chr22 | 41360051 | + |
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FusionProtFeatures for CYB5R3_RBX1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CYB5R3 | RBX1 |
| E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediatethe ubiquitination and subsequent proteasomal degradation oftarget proteins, including proteins involved in cell cycleprogression, signal transduction, transcription and transcription-coupled nucleotide excision repair. CRLs complexes and ARIH1collaborate in tandem to mediate ubiquitination of targetproteins, ARIH1 mediating addition of the first ubiquitin on CRLstargets (PubMed:27565346). The functional specificity of the E3ubiquitin-protein ligase complexes depends on the variablesubstrate recognition components. As a component of the CSAcomplex promotes the ubiquitination of ERCC6 resulting inproteasomal degradation. Through the RING-type zinc finger, seemsto recruit the E2 ubiquitination enzyme, like CDC34, to thecomplex and brings it into close proximity to the substrate.Probably also stimulates CDC34 autoubiquitination. May be requiredfor histone H3 and histone H4 ubiquitination in response toultraviolet and for subsequent DNA repair. Promotes theneddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction withUBE2M. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41.In concert with ATF2 and CUL3, promotes degradation of KAT5thereby attenuating its ability to acetylate and activate ATM.{ECO:0000269|PubMed:10579999, ECO:0000269|PubMed:11027288,ECO:0000269|PubMed:15983046, ECO:0000269|PubMed:16678110,ECO:0000269|PubMed:16751180, ECO:0000269|PubMed:18397884,ECO:0000269|PubMed:19112177, ECO:0000269|PubMed:19679664,ECO:0000269|PubMed:23455478, ECO:0000269|PubMed:27565346,ECO:0000269|PubMed:29769719}. |
| 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 CYB5R3_RBX1 |
| 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 CYB5R3_RBX1 |
| 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 |
| CYB5R3 | UBC, SPP1, CDK2, SDHA, HSPA1L, RPS7, SLC1A5, PARK2, ENO1, MOV10, NXF1, HOXB5, TSPAN5, RTN4, ACTL6A, RNF26, CPVL, CYP1A1, ATP5F1, CYB5B, PTEN, TCTN2, TCTN3, CEP290, CNTRL, SCLT1, STIL, TMEM17, COQ9, C15orf48, NDUFA4, OCIAD1, FAM136A, CHCHD10, NDUFS3, RTN1, SNRNP27, TSPAN11, USP47, SLC37A3, GML, MRPS11, HSPA8, AMTN, PDHA1 | RBX1 | VHL, DET1, RFWD2, SKP1, CAND1, CUL1, CCND1, CCND2, CCND3, CUL7, CUL2, CUL4A, CUL4B, NEDD8, CUL3, HSPA8, FBXO3, FBXO22, TUBA1B, ACTG1, HSPA1A, FBXW8, CDC34, FBXO18, DCUN1D1, SKP2, CUL5, ABTB2, RPS6KB1, PTGS2, FBXO11, PGAM5, PSMA6, DDB1, DDB2, FBXO31, ZC3HC1, KEAP1, GAN, ENC1, KLHL41, DIO2, ARID1B, TCEB2, SMAD3, FBXW11, CASP3, ING3, VPRBP, CORO7, UBXN7, TRPC4AP, FBXO42, CRBN, RICTOR, CSNK1E, MAPK8IP2, MAP3K7, TAB1, FRZB, ZAK, RAG1, MED8, TCEB1, HOXB4, GLMN, ELAVL1, MCM10, PRAME, BTRC, FBXW7, CUL9, FBXW2, FBXL5, FBXO2, FBXO6, FBXO44, FBXO17, FBXO27, PSMA2, KLHL7, ERCC8, FBXO25, CCNF, FBXL12, PML, HINT1, GRK5, MKNK2, UBE2D1, LRR1, LRRC14, DDA1, COPS3, COPS4, COPS6, COPS5, COPS7A, UBE2D3, UBE2D2, UBE2M, UBE2G1, MYB, APP, SESN2, SESN1, KLHL3, UBE2G2, FEM1B, HIF1A, UBE2R2, FBXL15, UBE2L3, TRIM27, RNF126, TRIM74, HAX1, SERTAD1, OS9, RHOBTB3, DCUN1D5, GFPT1, HIST1H4A, MTSS1, VRK2, NEDD4, MAP4K1, DCUN1D3, DAB2IP, TP53, UBE2L6, ESR1, IP6K1, GPS1, UBE2E3, RBX1, HIST1H1A, HIST1H1C, CDKN1B, SAMHD1, EEF1A1, HSPB1, KBTBD6, KBTBD7, FBXO21, IBTK, EZH2, GATA2, GHR, MAGEC2, KDM2B, RHOB, CREB3L3, DCUN1D2, DCUN1D4, KCTD17, DTL, UBE2E2, UVRAG, FBXO7, KLHL18, AIRE, FBXO32, ERBB2IP |
| - 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 CYB5R3_RBX1 |
| 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 CYB5R3_RBX1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CYB5R3 | C0268193 | NADH cytochrome B5 reductase deficiency | 9 | CTD_human;UNIPROT |
| Hgene | CYB5R3 | C0010520 | Cyanosis | 1 | CTD_human;HPO |
| Hgene | CYB5R3 | C0025637 | Methemoglobinemia | 1 | CTD_human;HPO |
| Tgene | RBX1 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
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