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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 GNPNAT1 |
 Gene summary |
| Gene information | Gene symbol | GNPNAT1 | Gene ID | 64841 |
| Gene name | glucosamine-phosphate N-acetyltransferase 1 | |
| Synonyms | GNA1|GNPNAT|Gpnat1 | |
| Cytomap | 14q22.1 | |
| Type of gene | protein-coding | |
| Description | glucosamine 6-phosphate N-acetyltransferasephosphoglucosamine acetylasephosphoglucosamine transacetylase | |
| Modification date | 20180523 | |
| UniProtAcc | Q96EK6 | |
| Context | PubMed: GNPNAT1 [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 GNPNAT1 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 GNPNAT1 |
| 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 GNPNAT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113374 | 14 | 53245092:53245176:53247396:53247458:53248501:53248629 | 53247396:53247458 | ENSG00000100522.4 | ENST00000557604.1,ENST00000554230.1,ENST00000216410.3 |
| exon_skip_113380 | 14 | 53251214:53251382:53254550:53254589:53258145:53258228 | 53254550:53254589 | ENSG00000100522.4 | ENST00000557604.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GNPNAT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113374 | 14 | 53245092:53245176:53247396:53247458:53248501:53248629 | 53247396:53247458 | ENSG00000100522.4 | ENST00000216410.3,ENST00000554230.1,ENST00000557604.1 |
| exon_skip_113380 | 14 | 53251214:53251382:53254550:53254589:53258145:53258228 | 53254550:53254589 | ENSG00000100522.4 | ENST00000557604.1 |
| 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 GNPNAT1 |
| 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 |
| ENST00000216410 | 53247396 | 53247458 | Frame-shift |
| 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 |
| ENST00000216410 | 53247396 | 53247458 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GNPNAT1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for GNPNAT1 |
| - 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 |
| KICH | TCGA-KL-8327-01 | exon_skip_113374 | 53247397 | 53247458 | 53247394 | 53247395 | Splice_Site | - | A | p.L136_splice |
| BRCA | TCGA-D8-A27T-01 | exon_skip_113374 | 53247397 | 53247458 | 53247396 | 53247396 | Splice_Site | C | A | e4+1 |
| - 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 |
| NCIH250_LUNG | 53247397 | 53247458 | 53247418 | 53247418 | Missense_Mutation | C | G | p.R129T |
| C33A_CERVIX | 53247397 | 53247458 | 53247454 | 53247454 | Missense_Mutation | C | T | p.G117E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GNPNAT1 |
| 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 GNPNAT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GNPNAT1 |
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RelatedDrugs for GNPNAT1 |
| 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 |
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RelatedDiseases for GNPNAT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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