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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 AGPAT2 |
 Gene summary |
| Gene information | Gene symbol | AGPAT2 | Gene ID | 10555 |
| Gene name | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| Synonyms | 1-AGPAT2|BSCL|BSCL1|LPAAB|LPAAT-beta | |
| Cytomap | 9q34.3 | |
| Type of gene | protein-coding | |
| Description | 1-acyl-sn-glycerol-3-phosphate acyltransferase beta1-AGP acyltransferase 21-AGPAT 21-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)lysophosphatidic acid acyltransferase-betatesticular tissue protein Li 143 | |
| Modification date | 20180523 | |
| UniProtAcc | O15120 | |
| Context | PubMed: AGPAT2 [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 AGPAT2 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 AGPAT2 |
| 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 AGPAT2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_508359 | 9 | 139568160:139568379:139569186:139569259:139571036:139571132 | 139569186:139569259 | ENSG00000169692.8 | ENST00000538402.1,ENST00000472820.1,ENST00000371696.2 |
| exon_skip_508362 | 9 | 139569186:139569259:139571036:139571132:139571412:139571587 | 139571036:139571132 | ENSG00000169692.8 | ENST00000538402.1,ENST00000472820.1,ENST00000371696.2 |
| exon_skip_508368 | 9 | 139569186:139569259:139571412:139571588:139571874:139572008 | 139571412:139571588 | ENSG00000169692.8 | ENST00000371694.3 |
| exon_skip_508374 | 9 | 139571036:139571132:139571412:139571588:139571874:139572008 | 139571412:139571588 | ENSG00000169692.8 | ENST00000538402.1,ENST00000371696.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AGPAT2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_508359 | 9 | 139568160:139568379:139569186:139569259:139571036:139571132 | 139569186:139569259 | ENSG00000169692.8 | ENST00000371696.2,ENST00000538402.1,ENST00000472820.1 |
| exon_skip_508362 | 9 | 139569186:139569259:139571036:139571132:139571412:139571587 | 139571036:139571132 | ENSG00000169692.8 | ENST00000371696.2,ENST00000538402.1,ENST00000472820.1 |
| exon_skip_508368 | 9 | 139569186:139569259:139571412:139571588:139571874:139572008 | 139571412:139571588 | ENSG00000169692.8 | ENST00000371694.3 |
| exon_skip_508374 | 9 | 139571036:139571132:139571412:139571588:139571874:139572008 | 139571412:139571588 | ENSG00000169692.8 | ENST00000371696.2,ENST00000538402.1 |
| 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 AGPAT2 |
| 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 |
| ENST00000371696 | 139569186 | 139569259 | Frame-shift |
| ENST00000538402 | 139569186 | 139569259 | Frame-shift |
| ENST00000371696 | 139571412 | 139571588 | Frame-shift |
| ENST00000538402 | 139571412 | 139571588 | Frame-shift |
| ENST00000371696 | 139571036 | 139571132 | In-frame |
| ENST00000538402 | 139571036 | 139571132 | 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 |
| ENST00000371696 | 139569186 | 139569259 | Frame-shift |
| ENST00000538402 | 139569186 | 139569259 | Frame-shift |
| ENST00000371696 | 139571412 | 139571588 | Frame-shift |
| ENST00000538402 | 139571412 | 139571588 | Frame-shift |
| ENST00000371696 | 139571036 | 139571132 | In-frame |
| ENST00000538402 | 139571036 | 139571132 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AGPAT2 |
| 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 |
| ENST00000371696 | 1529 | 278 | 139571036 | 139571132 | 559 | 654 | 164 | 196 |
| ENST00000538402 | 1374 | 278 | 139571036 | 139571132 | 532 | 627 | 164 | 196 |
| 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 |
| ENST00000371696 | 1529 | 278 | 139571036 | 139571132 | 559 | 654 | 164 | 196 |
| ENST00000538402 | 1374 | 278 | 139571036 | 139571132 | 532 | 627 | 164 | 196 |
| 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 |
| O15120 | 164 | 196 | 165 | 196 | Alternative sequence | ID=VSP_005071;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15120 | 164 | 196 | 165 | 196 | Alternative sequence | ID=VSP_005071;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15120 | 164 | 196 | 24 | 278 | Chain | ID=PRO_0000208192;Note=1-acyl-sn-glycerol-3-phosphate acyltransferase beta |
| O15120 | 164 | 196 | 24 | 278 | Chain | ID=PRO_0000208192;Note=1-acyl-sn-glycerol-3-phosphate acyltransferase beta |
| O15120 | 164 | 196 | 172 | 175 | Motif | Note=EGTR motif |
| O15120 | 164 | 196 | 172 | 175 | Motif | Note=EGTR motif |
| O15120 | 164 | 196 | 187 | 207 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15120 | 164 | 196 | 187 | 207 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O15120 | 164 | 196 | 165 | 196 | Alternative sequence | ID=VSP_005071;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15120 | 164 | 196 | 165 | 196 | Alternative sequence | ID=VSP_005071;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15120 | 164 | 196 | 24 | 278 | Chain | ID=PRO_0000208192;Note=1-acyl-sn-glycerol-3-phosphate acyltransferase beta |
| O15120 | 164 | 196 | 24 | 278 | Chain | ID=PRO_0000208192;Note=1-acyl-sn-glycerol-3-phosphate acyltransferase beta |
| O15120 | 164 | 196 | 172 | 175 | Motif | Note=EGTR motif |
| O15120 | 164 | 196 | 172 | 175 | Motif | Note=EGTR motif |
| O15120 | 164 | 196 | 187 | 207 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15120 | 164 | 196 | 187 | 207 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for AGPAT2 |
| - 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 |
| LUAD | TCGA-38-4628-01 | exon_skip_508362 | 139571037 | 139571132 | 139571073 | 139571073 | Frame_Shift_Del | A | - | p.F184fs |
| BLCA | TCGA-GC-A3I6-01 | exon_skip_508374 exon_skip_508368 | 139571413 | 139571588 | 139571568 | 139571568 | Nonsense_Mutation | C | A | p.E113* |
| - 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 |
| SNU1040_LARGE_INTESTINE | 139569187 | 139569259 | 139569210 | 139569210 | Missense_Mutation | G | A | p.T213I |
| OC316_OVARY | 139571413 | 139571588 | 139571432 | 139571432 | Missense_Mutation | T | G | p.E158A |
| OC314_OVARY | 139571413 | 139571588 | 139571432 | 139571432 | Missense_Mutation | T | G | p.E158A |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139571413 | 139571588 | 139571445 | 139571445 | Missense_Mutation | C | T | p.A154T |
| LOVO_LARGE_INTESTINE | 139571413 | 139571588 | 139571544 | 139571544 | Missense_Mutation | G | A | p.R121W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139571413 | 139571588 | 139571550 | 139571550 | Missense_Mutation | C | T | p.A119T |
| FTC133_THYROID | 139571413 | 139571588 | 139571564 | 139571564 | Missense_Mutation | C | T | p.R114H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AGPAT2 |
| 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 AGPAT2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGPAT2 |
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RelatedDrugs for AGPAT2 |
| 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 AGPAT2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AGPAT2 | C1720862 | Congenital Generalized Lipodystrophy Type 1 | 1 | UNIPROT |
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