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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for NAGS |
 Gene summary |
| Gene information | Gene symbol | NAGS | Gene ID | 162417 |
| Gene name | N-acetylglutamate synthase | |
| Synonyms | AGAS|ARGA | |
| Cytomap | 17q21.31 | |
| Type of gene | protein-coding | |
| Description | N-acetylglutamate synthase, mitochondrialamino-acid acetyltransferase | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N159 | |
| Context | PubMed: NAGS [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for NAGS from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for NAGS |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NAGS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_153038 | 17 | 42083415:42083605:42083896:42084077:42084690:42084862 | 42083896:42084077 | ENSG00000161653.6 | ENST00000589767.1,ENST00000293404.3 |
| exon_skip_153039 | 17 | 42084690:42084862:42084934:42085141:42085815:42086428 | 42084934:42085141 | ENSG00000161653.6 | ENST00000589767.1 |
| exon_skip_153041 | 17 | 42084690:42084862:42084958:42085141:42085815:42086428 | 42084958:42085141 | ENSG00000161653.6 | ENST00000592915.1,ENST00000293404.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NAGS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_153038 | 17 | 42083415:42083605:42083896:42084077:42084690:42084862 | 42083896:42084077 | ENSG00000161653.6 | ENST00000293404.3,ENST00000589767.1 |
| exon_skip_153039 | 17 | 42084690:42084862:42084934:42085141:42085815:42086428 | 42084934:42085141 | ENSG00000161653.6 | ENST00000589767.1 |
| exon_skip_153041 | 17 | 42084690:42084862:42084958:42085141:42085815:42086428 | 42084958:42085141 | ENSG00000161653.6 | ENST00000293404.3,ENST00000592915.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NAGS |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000293404 | 42083896 | 42084077 | Frame-shift |
| ENST00000293404 | 42084958 | 42085141 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000293404 | 42083896 | 42084077 | Frame-shift |
| ENST00000293404 | 42084958 | 42085141 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NAGS |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000293404 | 2199 | 534 | 42084958 | 42085141 | 1387 | 1569 | 423 | 483 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000293404 | 2199 | 534 | 42084958 | 42085141 | 1387 | 1569 | 423 | 483 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q8N159 | 423 | 483 | 424 | 435 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 438 | 447 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 471 | 476 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 444 | 444 | Binding site | Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4K30,ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 |
| Q8N159 | 423 | 483 | 19 | 534 | Chain | ID=PRO_0000041930;Note=N-acetylglutamate synthase long form;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N159 | 423 | 483 | 51 | 534 | Chain | ID=PRO_0000041931;Note=N-acetylglutamate synthase short form;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8N159 | 423 | 483 | 92 | 534 | Chain | ID=PRO_0000041932;Note=N-acetylglutamate synthase conserved domain form;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8N159 | 423 | 483 | 375 | 526 | Domain | Note=N-acetyltransferase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00532 |
| Q8N159 | 423 | 483 | 451 | 467 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 482 | 487 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 441 | 441 | Mutagenesis | Note=15%25 reduction in catalytic activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 |
| Q8N159 | 423 | 483 | 479 | 479 | Mutagenesis | Note=7-fold reduction in catalytic activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 |
| Q8N159 | 423 | 483 | 430 | 430 | Natural variant | ID=VAR_023508;Note=In NAGSD%3B markedly decreases activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754705,ECO:0000269|PubMed:15878741;Dbxref=dbSNP:rs104894605,PMID:12754705,PMID:15878741 |
| Q8N159 | 423 | 483 | 457 | 457 | Natural variant | ID=VAR_077335;Note=In NAGSD%3B unknown pathological significance. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=PMID:27037498 |
| Q8N159 | 423 | 483 | 474 | 479 | Region | Note=Substrate binding;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4K30,ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q8N159 | 423 | 483 | 424 | 435 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 438 | 447 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 471 | 476 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 444 | 444 | Binding site | Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4K30,ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 |
| Q8N159 | 423 | 483 | 19 | 534 | Chain | ID=PRO_0000041930;Note=N-acetylglutamate synthase long form;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N159 | 423 | 483 | 51 | 534 | Chain | ID=PRO_0000041931;Note=N-acetylglutamate synthase short form;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8N159 | 423 | 483 | 92 | 534 | Chain | ID=PRO_0000041932;Note=N-acetylglutamate synthase conserved domain form;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8N159 | 423 | 483 | 375 | 526 | Domain | Note=N-acetyltransferase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00532 |
| Q8N159 | 423 | 483 | 451 | 467 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 482 | 487 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K30 |
| Q8N159 | 423 | 483 | 441 | 441 | Mutagenesis | Note=15%25 reduction in catalytic activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 |
| Q8N159 | 423 | 483 | 479 | 479 | Mutagenesis | Note=7-fold reduction in catalytic activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 |
| Q8N159 | 423 | 483 | 430 | 430 | Natural variant | ID=VAR_023508;Note=In NAGSD%3B markedly decreases activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754705,ECO:0000269|PubMed:15878741;Dbxref=dbSNP:rs104894605,PMID:12754705,PMID:15878741 |
| Q8N159 | 423 | 483 | 457 | 457 | Natural variant | ID=VAR_077335;Note=In NAGSD%3B unknown pathological significance. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=PMID:27037498 |
| Q8N159 | 423 | 483 | 474 | 479 | Region | Note=Substrate binding;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4K30,ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 |
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SNVs in the skipped exons for NAGS |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_153041 exon_skip_153039 | 42084935 | 42085141 | 42084998 | 42084998 | Frame_Shift_Del | G | - | p.L436fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_153041 exon_skip_153039 | 42084959 | 42085141 | 42084998 | 42084998 | Frame_Shift_Del | G | - | p.L436fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_153041 exon_skip_153039 | 42084935 | 42085141 | 42085006 | 42085006 | Frame_Shift_Del | C | - | p.T439fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_153041 exon_skip_153039 | 42084959 | 42085141 | 42085006 | 42085006 | Frame_Shift_Del | C | - | p.T439fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_153041 exon_skip_153039 | 42084935 | 42085141 | 42085023 | 42085023 | Frame_Shift_Del | T | - | p.F445fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_153041 exon_skip_153039 | 42084959 | 42085141 | 42085023 | 42085023 | Frame_Shift_Del | T | - | p.F445fs |
| CESC | TCGA-EA-A5ZF-01 | exon_skip_153038 | 42083897 | 42084077 | 42084059 | 42084059 | Nonsense_Mutation | G | T | p.E360* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| RKO_LARGE_INTESTINE | 42084959 | 42085141 | 42084998 | 42084998 | Frame_Shift_Del | G | - | p.L436fs |
| RKO_LARGE_INTESTINE | 42084935 | 42085141 | 42084998 | 42084998 | Frame_Shift_Del | G | - | p.L436fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42084959 | 42085141 | 42084997 | 42084998 | Frame_Shift_Ins | - | G | p.LG436fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42084935 | 42085141 | 42084997 | 42084998 | Frame_Shift_Ins | - | G | p.LG436fs |
| SKRC20_KIDNEY | 42083897 | 42084077 | 42083945 | 42083945 | Missense_Mutation | G | A | p.A322T |
| MFE319_ENDOMETRIUM | 42083897 | 42084077 | 42084069 | 42084069 | Missense_Mutation | G | A | p.S363N |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42084959 | 42085141 | 42085086 | 42085086 | Missense_Mutation | C | T | p.R466W |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42084935 | 42085141 | 42085086 | 42085086 | Missense_Mutation | C | T | p.R466W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NAGS |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAGS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAGS |
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RelatedDrugs for NAGS |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q8N159 | DB00142 | Glutamic Acid | N-acetylglutamate synthase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for NAGS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NAGS | C0220994 | Hyperammonemia | 3 | CTD_human |
| NAGS | C0268543 | Hyperammonemia, type III | 3 | CTD_human;ORPHANET;UNIPROT |
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