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Fusion gene ID: 41808 |
FusionGeneSummary for WDR18_H2AFX |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: WDR18_H2AFX | Fusion gene ID: 41808 | Hgene | Tgene | Gene symbol | WDR18 | H2AFX | Gene ID | 57418 | 3014 |
| Gene name | WD repeat domain 18 | H2A histone family member X | |
| Synonyms | Ipi3|R32184_1 | H2A.X|H2A/X|H2AX | |
| Cytomap | 19p13.3 | 11q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | WD repeat-containing protein 18Involved in Processing ITS2 3 homolog | histone H2AXH2AX histonehistone H2A.x | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BV38 | P16104 | |
| Ensembl transtripts involved in fusion gene | ENST00000591997, ENST00000251289, ENST00000587001, | ENST00000530167, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 1 X 2 X 1=2 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(1/2*10)=2.32192809488736 | |
| Context | PubMed: WDR18 [Title/Abstract] AND H2AFX [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 | H2AFX | GO:0000077 | DNA damage checkpoint | 17974976 |
| Tgene | H2AFX | GO:0006974 | cellular response to DNA damage stimulus | 15149599 |
| 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 | LAML | TCGA-AB-2857-03A | WDR18 | chr19 | 985975 | + | H2AFX | chr11 | 118964971 | - |
| TCGA | LD | LAML | TCGA-AB-2857-03A | WDR18 | chr19 | 985975 | + | H2AFX | chr11 | 118835681 | - |
| * 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 |
| 3UTR-3UTR | ENST00000591997 | ENST00000530167 | WDR18 | chr19 | 985975 | + | H2AFX | chr11 | 118964971 | - |
| 5CDS-3UTR | ENST00000251289 | ENST00000530167 | WDR18 | chr19 | 985975 | + | H2AFX | chr11 | 118964971 | - |
| 5CDS-3UTR | ENST00000587001 | ENST00000530167 | WDR18 | chr19 | 985975 | + | H2AFX | chr11 | 118964971 | - |
| 3UTR-intron | ENST00000591997 | ENST00000530167 | WDR18 | chr19 | 985975 | + | H2AFX | chr11 | 118835681 | - |
| 5CDS-intron | ENST00000251289 | ENST00000530167 | WDR18 | chr19 | 985975 | + | H2AFX | chr11 | 118835681 | - |
| 5CDS-intron | ENST00000587001 | ENST00000530167 | WDR18 | chr19 | 985975 | + | H2AFX | chr11 | 118835681 | - |
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FusionProtFeatures for WDR18_H2AFX |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| WDR18 | H2AFX |
| Functions as a component of the Five Friends ofMethylated CHTOP (5FMC) complex; the 5FMC complex is recruited toZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 andsubsequent transactivation of ZNF148 target genes(PubMed:22872859). Component of the PELP1 complex involved in thenucleolar steps of 28S rRNA maturation and the subsequentnucleoplasmic transit of the pre-60S ribosomal subunit(PubMed:21326211). {ECO:0000269|PubMed:21326211,ECO:0000269|PubMed:22872859}. | Variant histone H2A which replaces conventional H2A in asubset of nucleosomes. Nucleosomes wrap and compact DNA intochromatin, limiting DNA accessibility to the cellular machinerieswhich require DNA as a template. Histones thereby play a centralrole in transcription regulation, DNA repair, DNA replication andchromosomal stability. DNA accessibility is regulated via acomplex set of post-translational modifications of histones, alsocalled histone code, and nucleosome remodeling. Required forcheckpoint-mediated arrest of cell cycle progression in responseto low doses of ionizing radiation and for efficient repair of DNAdouble strand breaks (DSBs) specifically when modified by C-terminal phosphorylation. {ECO:0000269|PubMed:10959836,ECO:0000269|PubMed:12419185, ECO:0000269|PubMed:12607005,ECO:0000269|PubMed:15201865}. |
| 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 WDR18_H2AFX |
| 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 WDR18_H2AFX |
| 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 |
| WDR18 | USP42, CSNK2B, TK1, SMN1, ANXA7, SMARCAD1, SIRT7, CUL3, SF3B3, HNRNPU, EIF4A3, HNRNPC, CDC5L, SAP18, LMNA, UTP14A, NHP2L1, SF3B6, NCSTN, VTN, IK, RFC1, SRSF1, ESR1, MDC1, PAXIP1, LAS1L, PELP1, MOK, GPRASP2, SHMT2, MOV10, CUL7, OBSL1, SENP3, ISCA1, NOL9, TEX10, ACOT2, CHD8, IFI16, NPM1, KIF2C, EXOSC4, FOXQ1, FOXS1, SNW1, DUSP22 | H2AFX | BARD1, BRCA1, BLM, TP53BP1, RAD50, RAD51, MDC1, NBN, ATR, XPC, PPM1D, EYA1, EYA3, PBK, MAPK8, DMAP1, CHD1L, RNF168, SMARCA4, SMARCA2, HIST2H2BE, HIST1H4A, CALM1, CALR, NPM1, HSPA5, SSRP1, SUPT16H, HNRNPR, SSB, EIF3L, PABPC1, PARP1, DHX30, HIST1H2BM, HIST1H2BC, PAPPA, PTCD3, PRKDC, TP53, PPP2R4, TSSK6, WRN, POLR2A, DHX9, XRCC6, BRCA2, XRCC5, KAT5, EEF1A1, PPM1G, FOXO3, ATM, RAD17, HIST4H4, RUVBL1, MRE11A, FANCD2, BIRC5, RPS6KA3, HIST1H3A, HIST2H2AC, BRD1, KAT2A, KAT8, KAT2B, HAT1, TP53I3, STK4, CFL1, CLU, HSP90B1, HSPA1A, ANXA4, ANXA5, PDCD6, TMX1, SLC25A6, TOR1B, HSP90AA1, HSPA1L, TRAP1, PRDX6, PLOD1, SOD2, AIFM1, NONO, YWHAZ, YWHAE, TOR1A, HYOU1, SSBP1, PGK1, MSN, EIF4A1, RPS10, CPS1, ILF2, ANXA2, ANXA2P2, CALM2, S100A4, PEF1, ANXA6, YWHAB, MATR3, ALDOA, PKM, ENO1, POFUT1, LDHB, ELAVL1, HNRNPD, HNRNPDL, HNRNPH3, HNRNPAB, PCBP2, BTF3, MSI2, ALYREF, SYNCRIP, HNRNPA1, HNRNPA2B1, HNRNPC, VPS35, ERP29, VAT1, LMNA, P3H1, PDIA4, RAB11B, NACA, EIF2S2, EEF1B2, PDIA6, CCT5, CTSD, ERO1L, P4HB, PRDX4, PPIA, PSMB3, RPLP2, PSMB4, FKBP10, SUMF2, P4HA2, RPN2, TXNDC12, PTGES2, HSD17B10, TKT, GANAB, GLB1, CMBL, PRKCSH, LGALS3BP, HEXA, ABHD10, APOA1BP, CFAP45, RMDN1, HSPA9, PRDX3, HIBCH, YWHAQ, OTUB1, QARS, TAF1C, A2M, ACTB, TAF5L, NGFR, MASP1, TIAM2, COPG1, BMI1, CBX2, MCPH1, ATF2, ARRB1, ARRB2, SIRT7, CSNK2A1, PAXIP1, EGFR, TRIM28, PML, HIST2H3C, CBX5, RNF2, TERF2, TOPORS, CENPA, HIST1H3B, ESR1, NCL, DDX21, RNF8, USP17L2, UBC, PAK1, STK11, SURF2, RPS2, PAIP1, C5orf64, WRAP53, ENY2, MLLT1, DIS3L, BANP, USP11, BAZ1A, MCM2, MCM5, HUWE1, HIST1H2BO, HIST1H2BD, GON4L, TONSL, HIST1H1C, PHF14, MMS22L, HIST1H1T, IPO9, HIST2H3PS2, CRAMP1L, PARP2, MIER1, YBX2, SS18L2, HIST2H2AB, MIER3, MACROD1, MAGEB10, LIG3, C16orf87, ZC3HAV1, NPAT, RPS27A, CETN2, GAN, MCM4, RPL26L1, TIMELESS, PABPC4L, RPS3, SUPT6H, RPS15, FGF8, CCDC86, NAP1L1, HIST2H4A, CTCF, CYP19A1, FGF3, H2AFY, YBX1, CETN1, GINS2, ANKHD1, RPS16, ZNF420, MCM6, KRR1, CXXC1, ZCCHC9, GINS3, RPS3A, ZBTB24, LARP1B, UPF1, RPS18, RBM19, ZNF22, RPS6, ELAVL2, GINS4, RPS28, DKC1, RPL8, ZSCAN25, RPS9, YBX3, RPL23A, RPS5, MRPS35, RPL19, ZNF574, HIF1A, TRAF6, FOXA1, RNF115 |
| - 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 WDR18_H2AFX |
| 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 WDR18_H2AFX |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | H2AFX | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Tgene | H2AFX | C0017636 | Glioblastoma | 1 | CTD_human |
| Tgene | H2AFX | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
| Tgene | H2AFX | C0032578 | Polyploidy | 1 | CTD_human |
| Tgene | H2AFX | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | H2AFX | C0376628 | Chromosome Breakage | 1 | CTD_human |
| Tgene | H2AFX | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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