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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 PNPLA1 |
 Gene summary |
| Gene information | Gene symbol | PNPLA1 | Gene ID | 285848 |
| Gene name | patatin like phospholipase domain containing 1 | |
| Synonyms | ARCI10|dJ50J22.1 | |
| Cytomap | 6p21.31 | |
| Type of gene | protein-coding | |
| Description | patatin-like phospholipase domain-containing protein 1 | |
| Modification date | 20180527 | |
| UniProtAcc | Q8N8W4 | |
| Context | PubMed: PNPLA1 [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 PNPLA1 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 PNPLA1 |
| 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 PNPLA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_451150 | 6 | 36263140:36263201:36269637:36270246:36274068:36274153 | 36269637:36270246 | ENSG00000180316.7 | ENST00000388715.3,ENST00000394571.2,ENST00000312917.5,ENST00000457797.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PNPLA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_451150 | 6 | 36263140:36263201:36269637:36270246:36274068:36274153 | 36269637:36270246 | ENSG00000180316.7 | ENST00000312917.5,ENST00000388715.3,ENST00000457797.1,ENST00000394571.2 |
| 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 PNPLA1 |
| 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 |
| ENST00000394571 | 36269637 | 36270246 | 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 |
| ENST00000394571 | 36269637 | 36270246 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PNPLA1 |
| 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 |
| ENST00000394571 | 2495 | 532 | 36269637 | 36270246 | 776 | 1384 | 258 | 461 |
| 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 |
| ENST00000394571 | 2495 | 532 | 36269637 | 36270246 | 776 | 1384 | 258 | 461 |
| 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 |
| Q8N8W4 | 258 | 461 | 1 | 532 | Chain | ID=PRO_0000292019;Note=Patatin-like phospholipase domain-containing protein 1 |
| Q8N8W4 | 258 | 461 | 326 | 451 | Compositional bias | Note=Pro-rich |
| Q8N8W4 | 258 | 461 | 423 | 423 | Natural variant | ID=VAR_032929;Note=P->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs12199580,PMID:14702039,PMID:15489334 |
| 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 |
| Q8N8W4 | 258 | 461 | 1 | 532 | Chain | ID=PRO_0000292019;Note=Patatin-like phospholipase domain-containing protein 1 |
| Q8N8W4 | 258 | 461 | 326 | 451 | Compositional bias | Note=Pro-rich |
| Q8N8W4 | 258 | 461 | 423 | 423 | Natural variant | ID=VAR_032929;Note=P->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs12199580,PMID:14702039,PMID:15489334 |
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SNVs in the skipped exons for PNPLA1 |
| - 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-DD-A39Y-01 | exon_skip_451150 | 36269638 | 36270246 | 36269803 | 36269803 | Frame_Shift_Del | G | - | p.W314fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_451150 | 36269638 | 36270246 | 36269803 | 36269803 | Frame_Shift_Del | G | - | p.W314fs |
| CESC | TCGA-EK-A3GN-01 | exon_skip_451150 | 36269638 | 36270246 | 36270034 | 36270034 | Frame_Shift_Del | C | - | p.P393fs |
| LIHC | TCGA-DD-AACK-01 | exon_skip_451150 | 36269638 | 36270246 | 36269664 | 36269664 | Nonsense_Mutation | A | T | p.K268X |
| HNSC | TCGA-BB-A5HU-01 | exon_skip_451150 | 36269638 | 36270246 | 36270066 | 36270066 | Nonsense_Mutation | C | T | p.Q402* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_451150 | 36269638 | 36270246 | 36270114 | 36270114 | Nonsense_Mutation | C | T | p.Q418* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_451150 | 36269638 | 36270246 | 36270114 | 36270114 | Nonsense_Mutation | C | T | p.Q418X |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_451150 | 36269638 | 36270246 | 36270234 | 36270234 | Nonsense_Mutation | G | T | p.E372* |
| LIHC | TCGA-EP-A2KB-01 | exon_skip_451150 | 36269638 | 36270246 | 36270243 | 36270243 | Nonsense_Mutation | C | T | p.Q461X |
| SKCM | TCGA-EB-A5UN-06 | exon_skip_451150 | 36269638 | 36270246 | 36270247 | 36270247 | Splice_Site | G | A | . |
| PRAD | TCGA-HC-7077-01 | exon_skip_451150 | 36269638 | 36270246 | 36270248 | 36270248 | Splice_Site | T | C | . |
| - 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 |
| SNU410_PANCREAS | 36269638 | 36270246 | 36269841 | 36269852 | In_Frame_Del | CCTGTGTCCCAA | - | p.PVSQ327del |
| HCC202_BREAST | 36269638 | 36270246 | 36269682 | 36269682 | Missense_Mutation | C | T | p.R274W |
| KMBC2_URINARY_TRACT | 36269638 | 36270246 | 36269724 | 36269724 | Missense_Mutation | G | C | p.E288Q |
| HT3_CERVIX | 36269638 | 36270246 | 36269793 | 36269793 | Missense_Mutation | C | A | p.H311N |
| HOP62_LUNG | 36269638 | 36270246 | 36269821 | 36269821 | Missense_Mutation | G | A | p.G320E |
| FLO1_OESOPHAGUS | 36269638 | 36270246 | 36269833 | 36269833 | Missense_Mutation | A | G | p.H324R |
| JAR_PLACENTA | 36269638 | 36270246 | 36269839 | 36269839 | Missense_Mutation | C | T | p.P326L |
| SW48_LARGE_INTESTINE | 36269638 | 36270246 | 36269925 | 36269925 | Missense_Mutation | G | T | p.A355S |
| TE11_OESOPHAGUS | 36269638 | 36270246 | 36269976 | 36269976 | Missense_Mutation | G | A | p.V372I |
| WM2664_SKIN | 36269638 | 36270246 | 36269989 | 36269989 | Missense_Mutation | C | T | p.A376V |
| WM115_SKIN | 36269638 | 36270246 | 36269989 | 36269989 | Missense_Mutation | C | T | p.A376V |
| LOXIMVI_SKIN | 36269638 | 36270246 | 36270025 | 36270025 | Missense_Mutation | C | T | p.S388L |
| PLCPRF5_LIVER | 36269638 | 36270246 | 36270039 | 36270039 | Missense_Mutation | C | A | p.P393T |
| EW22_BONE | 36269638 | 36270246 | 36270117 | 36270117 | Missense_Mutation | G | A | p.A419T |
| SW684_SOFT_TISSUE | 36269638 | 36270246 | 36270139 | 36270140 | Missense_Mutation | CC | TT | p.S426F |
| SW684_SOFT_TISSUE | 36269638 | 36270246 | 36270201 | 36270201 | Missense_Mutation | C | T | p.P447S |
| SW982_SOFT_TISSUE | 36269638 | 36270246 | 36270219 | 36270219 | Missense_Mutation | G | A | p.E453K |
| NCIH2126_LUNG | 36269638 | 36270246 | 36270022 | 36270022 | Nonsense_Mutation | C | A | p.S387* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PNPLA1 |
| 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 PNPLA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PNPLA1 |
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RelatedDrugs for PNPLA1 |
| 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 PNPLA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PNPLA1 | C0020757 | Ichthyoses | 1 | CTD_human |
| PNPLA1 | C3554355 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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