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Fusion gene ID: 4688 |
FusionGeneSummary for C12orf66_NXF3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C12orf66_NXF3 | Fusion gene ID: 4688 | Hgene | Tgene | Gene symbol | C12orf66 | NXF3 | Gene ID | 144577 | 56000 |
| Gene name | chromosome 12 open reading frame 66 | nuclear RNA export factor 3 | |
| Synonyms | - | - | |
| Cytomap | 12q14.2 | Xq22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | KICSTOR complex protein C12orf66UPF0536 protein C12orf66 | nuclear RNA export factor 3TAP-like protein 3TAPL-3 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96MD2 | Q9H4D5 | |
| Ensembl transtripts involved in fusion gene | ENST00000311915, ENST00000544871, ENST00000398055, ENST00000540673, | ENST00000395065, ENST00000425644, ENST00000425463, | |
| Fusion gene scores | * DoF score | 4 X 2 X 2=16 | 4 X 2 X 2=16 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: C12orf66 [Title/Abstract] AND NXF3 [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 | NXF3 | GO:0006406 | mRNA export from nucleus | 11545741 |
| 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-HB-A3YV-01A | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| * 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 |
| Frame-shift | ENST00000311915 | ENST00000395065 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| 5CDS-5UTR | ENST00000311915 | ENST00000425644 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| 5CDS-intron | ENST00000311915 | ENST00000425463 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| Frame-shift | ENST00000544871 | ENST00000395065 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| 5CDS-5UTR | ENST00000544871 | ENST00000425644 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| 5CDS-intron | ENST00000544871 | ENST00000425463 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| Frame-shift | ENST00000398055 | ENST00000395065 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| 5CDS-5UTR | ENST00000398055 | ENST00000425644 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| 5CDS-intron | ENST00000398055 | ENST00000425463 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| intron-3CDS | ENST00000540673 | ENST00000395065 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| intron-5UTR | ENST00000540673 | ENST00000425644 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
| intron-intron | ENST00000540673 | ENST00000425463 | C12orf66 | chr12 | 64609458 | - | NXF3 | chrX | 102339811 | - |
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FusionProtFeatures for C12orf66_NXF3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C12orf66 | NXF3 |
| As part of the KICSTOR complex functions in the aminoacid-sensing branch of the TORC1 signaling pathway. Recruits, inan amino acid-independent manner, the GATOR1 complex to thelysosomal membranes and allows its interaction with GATOR2 and theRAG GTPases. Functions upstream of the RAG GTPases and is requiredto negatively regulate mTORC1 signaling in absence of amino acids.In absence of the KICSTOR complex mTORC1 is constitutivelylocalized to the lysosome and activated. The KICSTOR complex isalso probably involved in the regulation of mTORC1 by glucose.{ECO:0000269|PubMed:28199306}. | May function as a tissue-specific nuclear mRNA exportfactor. |
| 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 C12orf66_NXF3 |
| 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 C12orf66_NXF3 |
| 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 |
| C12orf66 | KPTN, KRAS, ITFG2, C7orf60, DEPDC5 | NXF3 | XPO1, NXT1, NXT2, NXF1, SKIL |
| - 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 C12orf66_NXF3 |
| 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 C12orf66_NXF3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | C12orf66 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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