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Fusion gene ID: 37986 |
FusionGeneSummary for THOC1_GLI3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: THOC1_GLI3 | Fusion gene ID: 37986 | Hgene | Tgene | Gene symbol | THOC1 | GLI3 | Gene ID | 9984 | 2737 |
| Gene name | THO complex 1 | GLI family zinc finger 3 | |
| Synonyms | HPR1|P84|P84N5 | ACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV | |
| Cytomap | 18p11.32 | 7p14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | THO complex subunit 1hTREX84nuclear matrix protein p84tho1 | transcriptional activator GLI3GLI-Kruppel family member GLI3glioma-associated oncogene family zinc finger 3oncogene GLI3zinc finger protein GLI3 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q96FV9 | P10071 | |
| Ensembl transtripts involved in fusion gene | ENST00000261600, ENST00000582313, | ENST00000395925, ENST00000479210, ENST00000437480, | |
| Fusion gene scores | * DoF score | 4 X 5 X 3=60 | 4 X 5 X 3=60 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/60*10)=0 | |
| Context | PubMed: THOC1 [Title/Abstract] AND GLI3 [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 | THOC1 | GO:0006406 | mRNA export from nucleus | 17190602 |
| Hgene | THOC1 | GO:0006915 | apoptotic process | 10512864 |
| Hgene | THOC1 | GO:0032784 | regulation of DNA-templated transcription, elongation | 15870275 |
| Hgene | THOC1 | GO:0046784 | viral mRNA export from host cell nucleus | 18974867 |
| Tgene | GLI3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10693759|12435627|19084012 |
| Tgene | GLI3 | GO:0045892 | negative regulation of transcription, DNA-templated | 12435627|16254602|19084012 |
| Tgene | GLI3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17000779 |
| Tgene | GLI3 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 17331723 |
| 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 | SARC | TCGA-K1-A42X-02A | THOC1 | chr18 | 223440 | - | GLI3 | chr7 | 42262894 | - |
| TCGA | RV | SARC | TCGA-K1-A42X-01A | THOC1 | chr18 | 223440 | - | GLI3 | chr7 | 42262894 | - |
| * 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 |
| 5CDS-5UTR | ENST00000261600 | ENST00000395925 | THOC1 | chr18 | 223440 | - | GLI3 | chr7 | 42262894 | - |
| 5CDS-intron | ENST00000261600 | ENST00000479210 | THOC1 | chr18 | 223440 | - | GLI3 | chr7 | 42262894 | - |
| 5CDS-5UTR | ENST00000261600 | ENST00000437480 | THOC1 | chr18 | 223440 | - | GLI3 | chr7 | 42262894 | - |
| intron-5UTR | ENST00000582313 | ENST00000395925 | THOC1 | chr18 | 223440 | - | GLI3 | chr7 | 42262894 | - |
| intron-intron | ENST00000582313 | ENST00000479210 | THOC1 | chr18 | 223440 | - | GLI3 | chr7 | 42262894 | - |
| intron-5UTR | ENST00000582313 | ENST00000437480 | THOC1 | chr18 | 223440 | - | GLI3 | chr7 | 42262894 | - |
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FusionProtFeatures for THOC1_GLI3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| THOC1 | GLI3 |
| Required for efficient export of polyadenylated RNA.Acts as component of the THO subcomplex of the TREX complex whichis thought to couple mRNA transcription, processing and nuclearexport, and which specifically associates with spliced mRNA andnot with unspliced pre-mRNA. TREX is recruited to spliced mRNAs bya transcription-independent mechanism, binds to mRNA upstream ofthe exon-junction complex (EJC) and is recruited in asplicing- and cap-dependent manner to a region near the 5' end ofthe mRNA where it functions in mRNA export to the cytoplasm viathe TAP/NFX1 pathway. The TREX complex is essential for the exportof Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAsand infectious virus production. Regulates transcriptionalelongation of a subset of genes. Involved in genome stability bypreventing co-transcriptional R-loop formation. Participates in an apoptotic pathway which ischaracterized by activation of caspase-6, increases in theexpression of BAK1 and BCL2L1 and activation of NF-kappa-B. Thispathway does not require p53/TP53, nor does the presence ofp53/TP53 affect the efficiency of cell killing. Activates a G2/Mcell cycle checkpoint prior to the onset of apoptosis. Apoptosisis inhibited by association with RB1. | Has a dual function as a transcriptional activator and arepressor of the sonic hedgehog (Shh) pathway, and plays a role inlimb development. The full-length GLI3 form (GLI3FL) afterphosphorylation and nuclear translocation, acts as an activator(GLI3A) while GLI3R, its C-terminally truncated form, acts as arepressor. A proper balance between the GLI3 activator and therepressor GLI3R, rather than the repressor gradient itself or theactivator/repressor ratio gradient, specifies limb digit numberand identity. In concert with TRPS1, plays a role in regulatingthe size of the zone of distal chondrocytes, in restricting thezone of PTHLH expression in distal cells and in activatingchondrocyte proliferation. Binds to the minimal GLI-consensussequence 5'-GGGTGGTC-3'. {ECO:0000269|PubMed:10693759,ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:17764085}. |
| 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 THOC1_GLI3 |
| 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 THOC1_GLI3 |
| 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 |
| THOC1 | RB1, DDX39B, ALYREF, THOC2, THOC5, NCBP1, THOC3, THOC7, THOC6, IK, SF3B2, SF3B1, ZCCHC8, UTRN, ZC3H15, UBR7, RRP9, XPO4, VPS53, TRMT112, TPM3, TPM1, USP13, ZNF830, DHX8, THOC1, FRA10AC1, SAP30BP, WDR77, RPA3, RPA2, RPA1, RABGEF1, TRIM54, MOAP1, USHBP1, OBSL1, RNF2, LUZP4, DSCC1, KRAS, ADAR, DHX9, FMR1, GSN, PRMT1, SP110, NFKBIL1, FXR1, DUSP11, TOP3B, BCLAF1, EIF4A3, ZC3H11A, THRAP3, C17orf85, DDX39A, KIF1C, B4GALT7, ZC3H13, ZZEF1, ZC3H3, CHTOP, RBM15B, MRPS17, GTSE1, C14orf166, RBM27, BCCIP, SCAF1, ZC3H14, CAAP1, TDRD3, FYTTD1, POLDIP3, SARNP, PWWP2A, ATG4A, TARSL2, C19orf47, RBM33, ZFC3H1, C15orf52, NEDD4, MRPL12, MTNR1B, DLST, PDHA1 | GLI3 | CREBBP, SUFU, ZIC1, ZIC2, ZIC3, STK36, SAP18, MED12, BTRC, SKI, HDAC1, PRKCA, CSNK1A1, GSK3A, SOX2, FBXW11, KRAS, SMAD1, USP7, SPOP, RHOU, CELA1, THSD4, RCCD1, CEP44, KLHL7 |
| - 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 THOC1_GLI3 |
| 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 THOC1_GLI3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GLI3 | C0265306 | Greig cephalopolysyndactyly syndrome | 8 | CTD_human;ORPHANET;UNIPROT |
| Tgene | GLI3 | C0265220 | Pallister-Hall syndrome | 2 | CTD_human;ORPHANET |
| Tgene | GLI3 | C0027794 | Neural Tube Defects | 1 | CTD_human |
| Tgene | GLI3 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | GLI3 | C0152427 | Polydactyly | 1 | CTD_human |
| Tgene | GLI3 | C0162835 | Hypopigmentation disorder | 1 | CTD_human |
| Tgene | GLI3 | C3887487 | Postaxial polydactyly type A | 1 | UNIPROT |
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