|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for AGPAT1 |
 Gene summary |
| Gene information | Gene symbol | AGPAT1 | Gene ID | 10554 |
| Gene name | 1-acylglycerol-3-phosphate O-acyltransferase 1 | |
| Synonyms | 1-AGPAT1|G15|LPAAT-alpha|LPAATA | |
| Cytomap | 6p21.32 | |
| Type of gene | protein-coding | |
| Description | 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha1-AGP acyltransferase 11-AGPAT 11-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase)1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, | |
| Modification date | 20180523 | |
| UniProtAcc | Q99943 | |
| Context | PubMed: AGPAT1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for AGPAT1 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. |
 |
Top |
Gene isoform structures and expression levels for AGPAT1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for AGPAT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_458063 | 6 | 32137941:32138037:32138201:32138377:32139073:32139282 | 32138201:32138377 | ENSG00000204310.6 | ENST00000412465.2 |
| exon_skip_458067 | 6 | 32138201:32138377:32138713:32138847:32139026:32139282 | 32138713:32138847 | ENSG00000204310.6 | ENST00000476663.1 |
| exon_skip_458068 | 6 | 32138201:32138377:32138713:32138847:32139073:32139282 | 32138713:32138847 | ENSG00000204310.6 | ENST00000336984.6,ENST00000395499.1,ENST00000395497.1,ENST00000395496.1,ENST00000375107.3,ENST00000375104.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for AGPAT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_458063 | 6 | 32137941:32138037:32138201:32138377:32139073:32139282 | 32138201:32138377 | ENSG00000204310.6 | ENST00000412465.2 |
| exon_skip_458067 | 6 | 32138201:32138377:32138713:32138847:32139026:32139282 | 32138713:32138847 | ENSG00000204310.6 | ENST00000476663.1 |
| exon_skip_458068 | 6 | 32138201:32138377:32138713:32138847:32139073:32139282 | 32138713:32138847 | ENSG00000204310.6 | ENST00000395496.1,ENST00000375107.3,ENST00000395499.1,ENST00000375104.2,ENST00000395497.1,ENST00000336984.6 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for AGPAT1 |
| 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 |
| ENST00000336984 | 32138713 | 32138847 | Frame-shift |
| ENST00000375104 | 32138713 | 32138847 | Frame-shift |
| ENST00000375107 | 32138713 | 32138847 | Frame-shift |
| ENST00000395496 | 32138713 | 32138847 | Frame-shift |
| ENST00000395497 | 32138713 | 32138847 | Frame-shift |
| ENST00000395499 | 32138713 | 32138847 | 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 |
| ENST00000336984 | 32138713 | 32138847 | Frame-shift |
| ENST00000375104 | 32138713 | 32138847 | Frame-shift |
| ENST00000375107 | 32138713 | 32138847 | Frame-shift |
| ENST00000395496 | 32138713 | 32138847 | Frame-shift |
| ENST00000395497 | 32138713 | 32138847 | Frame-shift |
| ENST00000395499 | 32138713 | 32138847 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for AGPAT1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
Top |
SNVs in the skipped exons for AGPAT1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| BLCA | TCGA-G2-AA3B-01 | exon_skip_458067 exon_skip_458068 | 32138714 | 32138847 | 32138789 | 32138789 | Nonsense_Mutation | G | A | p.R87* |
| BRCA | TCGA-A7-A0CJ-01 | exon_skip_458063 | 32138202 | 32138377 | 32138201 | 32138201 | Splice_Site | C | T | e3+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 |
| NCIH1838_LUNG | 32138714 | 32138847 | 32138789 | 32138789 | Missense_Mutation | G | C | p.R87G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 32138714 | 32138847 | 32138822 | 32138822 | Missense_Mutation | T | C | p.I76V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 32138714 | 32138847 | 32138834 | 32138834 | Missense_Mutation | T | G | p.M72L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AGPAT1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGPAT1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGPAT1 |
Top |
RelatedDrugs for AGPAT1 |
| 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 |
Top |
RelatedDiseases for AGPAT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|