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Fusion gene ID: 37631 |
FusionGeneSummary for TCOF1_GPX3 |
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Fusion gene information | Fusion gene name: TCOF1_GPX3 | Fusion gene ID: 37631 | Hgene | Tgene | Gene symbol | TCOF1 | GPX3 | Gene ID | 6949 | 2878 |
Gene name | treacle ribosome biogenesis factor 1 | glutathione peroxidase 3 | |
Synonyms | MFD1|TCS|TCS1|treacle | GPx-P|GSHPx-3|GSHPx-P | |
Cytomap | 5q32-q33.1 | 5q33.1 | |
Type of gene | protein-coding | protein-coding | |
Description | treacle proteinTreacher Collins syndrome proteinTreacher Collins-Franceschetti syndrome 1nucleolar trafficking phosphoprotein | glutathione peroxidase 3GPx-3extracellular glutathione peroxidaseglutathione peroxidase 3 (plasma)plasma glutathione peroxidase | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q13428 | P22352 | |
Ensembl transtripts involved in fusion gene | ENST00000451292, ENST00000377797, ENST00000445265, ENST00000323668, ENST00000439160, ENST00000394269, ENST00000504761, ENST00000513346, ENST00000506063, | ENST00000388825, ENST00000521722, ENST00000517973, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 5 X 9 X 2=90 |
# samples | 4 | 10 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/90*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TCOF1 [Title/Abstract] AND GPX3 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | GPX3 | GO:0051289 | protein homotetramerization | 3693360 |
![]() (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 | STAD | TCGA-BR-8289-01A | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000451292 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-3UTR | ENST00000451292 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-intron | ENST00000451292 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
Frame-shift | ENST00000377797 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-3UTR | ENST00000377797 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-intron | ENST00000377797 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
Frame-shift | ENST00000445265 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-3UTR | ENST00000445265 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-intron | ENST00000445265 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
Frame-shift | ENST00000323668 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-3UTR | ENST00000323668 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-intron | ENST00000323668 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
Frame-shift | ENST00000439160 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-3UTR | ENST00000439160 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-intron | ENST00000439160 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
Frame-shift | ENST00000394269 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-3UTR | ENST00000394269 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-intron | ENST00000394269 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
Frame-shift | ENST00000504761 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-3UTR | ENST00000504761 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-intron | ENST00000504761 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
Frame-shift | ENST00000513346 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-3UTR | ENST00000513346 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
5CDS-intron | ENST00000513346 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
intron-3CDS | ENST00000506063 | ENST00000388825 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
intron-3UTR | ENST00000506063 | ENST00000521722 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
intron-intron | ENST00000506063 | ENST00000517973 | TCOF1 | chr5 | 149740774 | + | GPX3 | chr5 | 150404901 | + |
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FusionProtFeatures for TCOF1_GPX3 |
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Hgene | Tgene |
TCOF1 | GPX3 |
Nucleolar protein that acts as a regulator of RNApolymerase I by connecting RNA polymerase I with enzymesresponsible for ribosomal processing and modification(PubMed:12777385, PubMed:26399832). Required for neural crestspecification: following monoubiquitination by the BCR(KBTBD8)complex, associates with NOLC1 and acts as a platform to connectRNA polymerase I with enzymes responsible for ribosomal processingand modification, leading to remodel the translational program ofdifferentiating cells in favor of neural crest specification(PubMed:26399832). {ECO:0000269|PubMed:12777385,ECO:0000269|PubMed:26399832}. | Protects cells and enzymes from oxidative damage, bycatalyzing the reduction of hydrogen peroxide, lipid peroxides andorganic hydroperoxide, by glutathione. |
![]() * 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 TCOF1_GPX3 |
![]() (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 TCOF1_GPX3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TCOF1 | ARRB2, ARRB1, USP44, WDR48, GPN1, TERF2, NOP56, TOP1, SIRT7, CAND1, GRK5, NDUFV1, OXCT1, SEC22B, S100A16, HPDL, SEPT11, SIX4, PPT1, SRSF10, NPTX1, ESR1, ECT2, PNKP, PAN2, IGSF8, ICAM1, TM9SF1, SRPK2, RPA1, RPA2, RPA3, LGR4, CSNK2A2, CDK2, LIN28A, PRKRA, TARBP2, CUL7, OBSL1, EED, SIRT6, ZBTB38, DENND2D, RASSF9, NTRK1, OFD1, XPO1, HIST1H3E, AKT1, SORT1, BECN1, RASSF8, L1TD1, BAG6, KBTBD8, NOLC1, POLR1A, POLR1B, DKC1, NHP2, NOP58, CSNK2A1, EGFR, CAMKV, PIP4K2A, UBC, ZNHIT2, TRIM25, BRCA1 | GPX3 | GPX3, UBQLN1, TP53I3 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TCOF1_GPX3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | GPX3 | P22352 | DB00143 | Glutathione | Glutathione peroxidase 3 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for TCOF1_GPX3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TCOF1 | C0242387 | Mandibulofacial Dysostosis | 2 | CTD_human;ORPHANET;UNIPROT |
Hgene | TCOF1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | GPX3 | C0014175 | Endometriosis | 2 | CTD_human |
Tgene | GPX3 | C0024121 | Lung Neoplasms | 2 | CTD_human |
Tgene | GPX3 | C0028754 | Obesity | 2 | CTD_human |
Tgene | GPX3 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | GPX3 | C0015624 | Fanconi Syndrome | 1 | CTD_human |
Tgene | GPX3 | C0021655 | Insulin Resistance | 1 | CTD_human |
Tgene | GPX3 | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | GPX3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | GPX3 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |