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Fusion gene ID: 23374 |
FusionGeneSummary for NAGS_LIN54 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NAGS_LIN54 | Fusion gene ID: 23374 | Hgene | Tgene | Gene symbol | NAGS | LIN54 | Gene ID | 162417 | 132660 |
| Gene name | N-acetylglutamate synthase | lin-54 DREAM MuvB core complex component | |
| Synonyms | AGAS|ARGA | CXCDC1|JC8.6|MIP120|TCX1 | |
| Cytomap | 17q21.31 | 4q21.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | N-acetylglutamate synthase, mitochondrialamino-acid acetyltransferase | protein lin-54 homologCXC domain-containing protein 1lin-54 homolog | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8N159 | Q6MZP7 | |
| Ensembl transtripts involved in fusion gene | ENST00000293404, | ENST00000395282, ENST00000395283, ENST00000340417, ENST00000442461, ENST00000446851, ENST00000510557, ENST00000506560, ENST00000505397, ENST00000505905, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: NAGS [Title/Abstract] AND LIN54 [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 |
| 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 |
| ChiTaRS3.1 | R97030 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| * 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-intron | ENST00000293404 | ENST00000395282 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| 3UTR-intron | ENST00000293404 | ENST00000395283 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| 3UTR-intron | ENST00000293404 | ENST00000340417 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| 3UTR-intron | ENST00000293404 | ENST00000442461 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| 3UTR-intron | ENST00000293404 | ENST00000446851 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| 3UTR-intron | ENST00000293404 | ENST00000510557 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| 3UTR-intron | ENST00000293404 | ENST00000506560 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| 3UTR-intron | ENST00000293404 | ENST00000505397 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
| 3UTR-intron | ENST00000293404 | ENST00000505905 | NAGS | chr17 | 42086332 | - | LIN54 | chr4 | 83869103 | - |
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FusionProtFeatures for NAGS_LIN54 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NAGS | LIN54 |
| Plays a role in the regulation of ureagenesis byproducing the essential cofactor N-acetylglutamate (NAG), thusmodulating carbamoylphosphate synthase I (CPSI) activity. | Component of the DREAM complex, a multiprotein complexthat can both act as a transcription activator or repressordepending on the context (PubMed:17671431, PubMed:17531812). In G0phase, the complex binds to more than 800 promoters and isrequired for repression of E2F target genes (PubMed:17671431,PubMed:17531812). In S phase, the complex selectively binds to thepromoters of G2/M genes whose products are required for mitosisand participates in their cell cycle dependent activation(PubMed:17671431, PubMed:17531812). In the complex, acts as a DNA-binding protein that binds the promoter of CDK1 in a sequence-specific manner (PubMed:19725879). Specifically recognizes theconsensus motif 5'-TTYRAA-3' in target DNA (PubMed:27465258).{ECO:0000269|PubMed:17531812, ECO:0000269|PubMed:17671431,ECO:0000269|PubMed:19725879, ECO:0000269|PubMed:27465258}. |
| 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 NAGS_LIN54 |
| 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 NAGS_LIN54 |
| 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 |
| - 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 NAGS_LIN54 |
| 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 |
| Hgene | NAGS | Q8N159 | DB00142 | Glutamic Acid | N-acetylglutamate synthase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for NAGS_LIN54 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NAGS | C0220994 | Hyperammonemia | 3 | CTD_human |
| Hgene | NAGS | C0268543 | Hyperammonemia, type III | 3 | CTD_human;ORPHANET;UNIPROT |
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