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Fusion gene ID: 13227 |
FusionGeneSummary for FBXW7_TMEM126B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FBXW7_TMEM126B | Fusion gene ID: 13227 | Hgene | Tgene | Gene symbol | FBXW7 | TMEM126B | Gene ID | 55294 | 55863 |
| Gene name | F-box and WD repeat domain containing 7 | transmembrane protein 126B | |
| Synonyms | AGO|CDC4|FBW6|FBW7|FBX30|FBXO30|FBXW6|SEL-10|SEL10|hAgo|hCdc4 | HT007 | |
| Cytomap | 4q31.3 | 11q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | F-box/WD repeat-containing protein 7F-box and WD repeat domain containing 7, E3 ubiquitin protein ligaseF-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)F-box protein FBW7F-box protein FBX30F-box protein SEL-10archipelagohomolog of | complex I assembly factor TMEM126B, mitochondrial | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q969H0 | Q8IUX1 | |
| Ensembl transtripts involved in fusion gene | ENST00000281708, ENST00000603548, ENST00000604872, ENST00000296555, ENST00000263981, ENST00000393956, ENST00000603841, ENST00000604095, | ENST00000358867, ENST00000534341, ENST00000393375, | |
| Fusion gene scores | * DoF score | 9 X 5 X 7=315 | 1 X 1 X 1=1 |
| # samples | 10 | 1 | |
| ** MAII score | log2(10/315*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: FBXW7 [Title/Abstract] AND TMEM126B [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 |
| Hgene | FBXW7 | GO:0016567 | protein ubiquitination | 12354302|15103331 |
| Hgene | FBXW7 | GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 15103331|17434132 |
| Hgene | FBXW7 | GO:0031398 | positive regulation of protein ubiquitination | 12628165 |
| Hgene | FBXW7 | GO:0045741 | positive regulation of epidermal growth factor-activated receptor activity | 20208556 |
| Hgene | FBXW7 | GO:0050821 | protein stabilization | 20208556 |
| Hgene | FBXW7 | GO:0051443 | positive regulation of ubiquitin-protein transferase activity | 12628165 |
| Hgene | FBXW7 | GO:1901800 | positive regulation of proteasomal protein catabolic process | 23858059 |
| Hgene | FBXW7 | GO:1903378 | positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 23858059 |
| Hgene | FBXW7 | GO:2000060 | positive regulation of ubiquitin-dependent protein catabolic process | 20208556 |
| 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 | RV | LGG | TCGA-CS-6666-01A | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| * 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 |
| 5UTR-3CDS | ENST00000281708 | ENST00000358867 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000281708 | ENST00000534341 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000281708 | ENST00000393375 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000603548 | ENST00000358867 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000603548 | ENST00000534341 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000603548 | ENST00000393375 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000604872 | ENST00000358867 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000604872 | ENST00000534341 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000604872 | ENST00000393375 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000296555 | ENST00000358867 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000296555 | ENST00000534341 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000296555 | ENST00000393375 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000263981 | ENST00000358867 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000263981 | ENST00000534341 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000263981 | ENST00000393375 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000393956 | ENST00000358867 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000393956 | ENST00000534341 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000393956 | ENST00000393375 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000603841 | ENST00000358867 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000603841 | ENST00000534341 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| intron-3CDS | ENST00000603841 | ENST00000393375 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000604095 | ENST00000358867 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000604095 | ENST00000534341 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
| 5UTR-3CDS | ENST00000604095 | ENST00000393375 | FBXW7 | chr4 | 153456093 | - | TMEM126B | chr11 | 85345130 | + |
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FusionProtFeatures for FBXW7_TMEM126B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FBXW7 | TMEM126B |
| Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediatesthe ubiquitination and subsequent proteasomal degradation oftarget proteins. Recognizes and binds phosphorylatedsites/phosphodegrons within target proteins and thereafter bringthem to the SCF complex for ubiquitination (PubMed:17434132).Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC,NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1,and probably PSEN1 (PubMed:11565034, PubMed:12354302,PubMed:11585921, PubMed:15103331, PubMed:14739463,PubMed:17558397, PubMed:17873522, PubMed:22608923,PubMed:29149593, PubMed:25775507, PubMed:28007894). Acts as anegative regulator of JNK signaling by binding to phosphorylatedJUN and promoting its ubiquitination and subsequent degradation(PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitinationand subsequent degradation of NFE2L1 (By similarity). Involved inbone homeostasis and negative regulation of osteoclastdifferentiation (PubMed:29149593). {ECO:0000250|UniProtKB:Q8VBV4,ECO:0000269|PubMed:11565034, ECO:0000269|PubMed:11585921,ECO:0000269|PubMed:14739463, ECO:0000269|PubMed:15103331,ECO:0000269|PubMed:17434132, ECO:0000269|PubMed:17558397,ECO:0000269|PubMed:17873522, ECO:0000269|PubMed:22608923,ECO:0000269|PubMed:25775507, ECO:0000269|PubMed:28007894,ECO:0000269|PubMed:29149593, ECO:0000305|PubMed:12354302}. | Chaperone protein involved in the assembly of themitochondrial NADH:ubiquinone oxidoreductase complex (complex I).Participates in constructing the membrane arm of complex I.{ECO:0000269|PubMed:24191001}. |
| 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 FBXW7_TMEM126B |
| 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 FBXW7_TMEM126B |
| 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 |
| FBXW7 | NFKB2, CCNE1, PARK2, SKP1, MMS22L, LINGO1, KIAA1875, SUMF2, ARL6IP1, SHPRH, CUL1, PSEN1, NOTCH1, MTOR, MYB, HIPK2, PPARGC1A, MYC, SREBF1, KLF5, GNB2L1, CCNE2, MYCN, AURKA, DCLRE1C, HIF1A, EIF3E, FBXW7, NFE2L1, PIN1, TP63, RBX1, EBNA1BP2, USP28, TOP2A, PSMA2, REST, GSK3B, RICTOR, GLMN, JAG1, BTG1, CDC34, AURKB, MED12, MED1, MED13, MED13L, MED14, MED23, MED16, MED15, MED4, MED8, MED24, MED20, MED22, MED27, MED10, MED9, MED17, MED11, MED19, MED21, MED28, MED29, MED30, MED31, MED6, CCNC, CCDC6, STOML1, CDK2, HSP90AA1, KLF2, PTEN, NCOA3, CSF3R, UBE2QL1, MAP4K1, EYA1, YAP1, DAB2IP, MCL1, MOV10, NXF1, USP36, SNCA, CRY2, GATA3, CUL7, BUB1B, FANCD2, RAB4B, RAG1, RFWD3, KRAS, MAPK3, ANGPTL4, BCAS3, BEX1, IL24, SCGB3A1, TRIM25, GATA2, NFE2L3, RUNX2, FAM83D, RND3, MYCBP2, FBXO45, HECTD1, CCT3, HSF1, FKBP5, DDX39A, YBX1, SERBP1, RAE1, FMR1, RPL29, SF3A3, TSEN34, BCAS2, RPL10L, CPSF3, NMT1, RBM28, SPRYD3, IPO4, CDK8, DDX17, EP400, NAA10, ARID4B, FAM60A, GTF3C2, MAX, TAF9, RCOR1, HIST1H2AD, HIST1H1E, CREB3L2, MORF4L2, CEBPZ, SIN3A, SSRP1, RIOK1, PPP1CB, ACLY, CSNK1A1L, SMU1, GFPT2, ATG16L2, DPM1, HADHA, TUBBP2, TUBA1C, TMOD3, ACTR2, PRPH, MAP7D1, MAGEF1, AP3D1, CLASP1, SNX8, PSMA4, MYO5A, MAGEC2, ENO1, FGA, RERE, GAK, CPSF1, OSGIN2, SPAG11B, MS4A1, CDH19, HERC2P2, PVRL3, SUPT6H, MPPED1, GAMTP1, SSBP1, TXLNGY, SSH2, CYBB, CYLD, PUF60, CMIP, RSBN1L, C6orf136, EPOR, GRM3, NAPG, TBX4, GGCT, MASTL, DDO, KATNAL1, RSPRY1, MOCS1, NDUFB9, NELFE, NCOR1, TRAT1, EXOSC4, TMEM126B, C8orf44, ACTR5, C5orf64, SOX7, GMDS, MEP1A, PTPRN2, CTDP1, UBAC1, NAT8B, RNPC3, VPS16, MTFMT, ZC3H18, SPRED1, SNRNP70, LETM2, EBF3, SPTBN1, PHF20L1, CINP, EIF4E3, COL1A2, SLC35A1, DIDO1, TNFRSF19, TMEM65, LINC00173, AP2A1, EIF4A3, TUBA1B, ZCCHC3, EFHC1, DNAJC21, MMAA, C5orf51, LRRTM1, LCE1B, COPS6, FAM32A, TBCB, ITGAV, POLR2K, SNRPB2, BARX2, CTIF, DUSP16, OR51V1, COL12A1, CDK18, PTGDS, SLC17A1, COPS3, TRIM58, ZFR, SRBD1, SHROOM4, RALYL, NUDT4P1, GRIK3, DLC1, RBMX, PALM2-AKAP2, CDR2, LPA, SPDL1, H2AFY2, C5orf15, SENP7, ALKBH8, ZNF563, PRPSAP1, SNRPF, TJP2, RERG, B3GALNT2, BRAF, JUN, SOX10, DEPTOR, FOXM1, C1orf86, STAT3, PLK1, CDX2, CTNNB1, SOX9, PA2G4, EGLN2, STYX, FBXW2, PRR36, CREB3L1, TRAF2, TP53, MAGEA1, ARHGDIA, EXT1, TSC22D4, PLK2, NONO, HNRNPK, BLM, DISC1 | TMEM126B | APP, DHX15, DHX9, SUGP2, NDUFS1, MRFAP1L1, NDUFS3, TIMMDC1, SPACA1, CACNG4, ECSIT, NDUFAF1, NDUFC2, ACAD9, NDUFA13, FBXW7, APLNR, C1orf85, PDCD1, NDUFB11 |
| - 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 FBXW7_TMEM126B |
| 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 FBXW7_TMEM126B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FBXW7 | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 2 | CTD_human |
| Hgene | FBXW7 | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Hgene | FBXW7 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | FBXW7 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | FBXW7 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | FBXW7 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | FBXW7 | C0919532 | Genomic Instability | 1 | CTD_human |
| Hgene | FBXW7 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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