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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 GPAM |
 Gene summary |
| Gene information | Gene symbol | GPAM | Gene ID | 57678 |
| Gene name | glycerol-3-phosphate acyltransferase, mitochondrial | |
| Synonyms | GPAT|GPAT1 | |
| Cytomap | 10q25.2 | |
| Type of gene | protein-coding | |
| Description | glycerol-3-phosphate acyltransferase 1, mitochondrialGPAT-1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9HCL2 | |
| Context | PubMed: GPAM [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 |
| GPAM | GO:0019432 | triglyceride biosynthetic process | 18238778 |
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Exon skipping events across known transcript of Ensembl for GPAM 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 GPAM |
| 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 GPAM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54104 | 10 | 113909636:113913424:113914386:113914445:113915621:113915766 | 113914386:113914445 | ENSG00000119927.9 | ENST00000423155.1,ENST00000348367.4 |
| exon_skip_54107 | 10 | 113920361:113920626:113921424:113921495:113923458:113923574 | 113921424:113921495 | ENSG00000119927.9 | ENST00000369425.1,ENST00000423155.1,ENST00000348367.4 |
| exon_skip_54109 | 10 | 113932727:113932824:113933456:113933603:113935357:113935471 | 113933456:113933603 | ENSG00000119927.9 | ENST00000369425.1,ENST00000423155.1,ENST00000348367.4 |
| exon_skip_54110 | 10 | 113935357:113935471:113937741:113937815:113940230:113940353 | 113937741:113937815 | ENSG00000119927.9 | ENST00000369425.1,ENST00000423155.1,ENST00000348367.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GPAM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54104 | 10 | 113909636:113913424:113914386:113914445:113915621:113915766 | 113914386:113914445 | ENSG00000119927.9 | ENST00000348367.4,ENST00000423155.1 |
| exon_skip_54107 | 10 | 113920361:113920626:113921424:113921495:113923458:113923574 | 113921424:113921495 | ENSG00000119927.9 | ENST00000348367.4,ENST00000423155.1,ENST00000369425.1 |
| exon_skip_54110 | 10 | 113935357:113935471:113937741:113937815:113940230:113940353 | 113937741:113937815 | ENSG00000119927.9 | ENST00000348367.4,ENST00000423155.1,ENST00000369425.1 |
| 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 GPAM |
| 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 |
| ENST00000348367 | 113914386 | 113914445 | Frame-shift |
| ENST00000348367 | 113921424 | 113921495 | Frame-shift |
| ENST00000348367 | 113937741 | 113937815 | Frame-shift |
| ENST00000348367 | 113933456 | 113933603 | 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 |
| ENST00000348367 | 113914386 | 113914445 | Frame-shift |
| ENST00000348367 | 113921424 | 113921495 | Frame-shift |
| ENST00000348367 | 113937741 | 113937815 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GPAM |
| 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 |
| ENST00000348367 | 6386 | 828 | 113933456 | 113933603 | 612 | 758 | 138 | 186 |
| 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 GPAM |
| - 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 |
| HNSC | TCGA-T3-A92M-01 | exon_skip_54109 | 113933457 | 113933603 | 113933538 | 113933538 | Nonsense_Mutation | G | C | p.S160* |
| STAD | TCGA-D7-A4YT-01 | exon_skip_54109 | 113933457 | 113933603 | 113933596 | 113933596 | Nonsense_Mutation | C | A | p.E141* |
| - 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 |
| PCI38_UPPER_AERODIGESTIVE_TRACT | 113933457 | 113933603 | 113933476 | 113933476 | Missense_Mutation | C | G | p.V181L |
| LC2AD_LUNG | 113933457 | 113933603 | 113933559 | 113933559 | Missense_Mutation | T | A | p.D153V |
| EN_ENDOMETRIUM | 113937742 | 113937815 | 113937757 | 113937757 | Missense_Mutation | T | C | p.N95S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GPAM |
| 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 GPAM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GPAM |
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RelatedDrugs for GPAM |
| 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 GPAM |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GPAM | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| GPAM | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| GPAM | C0025202 | melanoma | 1 | CTD_human |
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