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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 PON1 |
 Gene summary |
| Gene information | Gene symbol | PON1 | Gene ID | 5444 |
| Gene name | paraoxonase 1 | |
| Synonyms | ESA|MVCD5|PON | |
| Cytomap | 7q21.3 | |
| Type of gene | protein-coding | |
| Description | serum paraoxonase/arylesterase 1A-esterase 1K-45PON 1aromatic esterase 1arylesterase 1arylesterase B-typeesterase Aparaoxonase B-typeserum aryldiakylphosphataseserum aryldialkylphosphatase 1 | |
| Modification date | 20180527 | |
| UniProtAcc | P27169 | |
| Context | PubMed: PON1 [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 |
| PON1 | GO:0010875 | positive regulation of cholesterol efflux | 15721011 |
| PON1 | GO:0019439 | aromatic compound catabolic process | 15772423 |
| PON1 | GO:0032411 | positive regulation of transporter activity | 15721011 |
| PON1 | GO:0034445 | negative regulation of plasma lipoprotein oxidation | 15342686 |
| PON1 | GO:0046395 | carboxylic acid catabolic process | 7638166 |
| PON1 | GO:0046434 | organophosphate catabolic process | 7638166 |
| PON1 | GO:0046470 | phosphatidylcholine metabolic process | 15721011 |
| PON1 | GO:0051099 | positive regulation of binding | 15721011 |
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Exon skipping events across known transcript of Ensembl for PON1 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 PON1 |
| 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 PON1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_477260 | 7 | 94928225:94928414:94931516:94931645:94935596:94935678 | 94931516:94931645 | ENSG00000005421.4 | ENST00000433729.1,ENST00000222381.3,ENST00000542556.1 |
| exon_skip_477261 | 7 | 94931516:94931645:94935596:94935678:94937322:94937523 | 94935596:94935678 | ENSG00000005421.4 | ENST00000433729.1,ENST00000222381.3,ENST00000542556.1 |
| exon_skip_477263 | 7 | 94946045:94946101:94947634:94947705:94953713:94953788 | 94947634:94947705 | ENSG00000005421.4 | ENST00000433729.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PON1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_477260 | 7 | 94928225:94928414:94931516:94931645:94935596:94935678 | 94931516:94931645 | ENSG00000005421.4 | ENST00000222381.3,ENST00000542556.1,ENST00000433729.1 |
| exon_skip_477263 | 7 | 94946045:94946101:94947634:94947705:94953713:94953788 | 94947634:94947705 | ENSG00000005421.4 | ENST00000433729.1 |
| 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 PON1 |
| 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 |
| ENST00000222381 | 94935596 | 94935678 | Frame-shift |
| ENST00000222381 | 94931516 | 94931645 | 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 |
| ENST00000222381 | 94931516 | 94931645 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PON1 |
| 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 |
| ENST00000222381 | 2585 | 355 | 94931516 | 94931645 | 1013 | 1141 | 260 | 303 |
| 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 |
| ENST00000222381 | 2585 | 355 | 94931516 | 94931645 | 1013 | 1141 | 260 | 303 |
| 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 |
| P27169 | 260 | 303 | 256 | 263 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 265 | 273 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 280 | 286 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 302 | 308 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 2 | 355 | Chain | ID=PRO_0000223281;Note=Serum paraoxonase/arylesterase 1 |
| P27169 | 260 | 303 | 42 | 353 | Disulfide bond | Note=In form B;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15098021,ECO:0000269|PubMed:8292612;Dbxref=PMID:15098021,PMID:8292612 |
| P27169 | 260 | 303 | 270 | 270 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P27169 | 260 | 303 | 288 | 292 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 269 | 269 | Metal binding | Note=Calcium 1%3B catalytic |
| P27169 | 260 | 303 | 270 | 270 | Metal binding | Note=Calcium 1%3B catalytic |
| P27169 | 260 | 303 | 284 | 284 | Mutagenesis | Note=No loss of activity. C->A%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7638166;Dbxref=PMID:7638166 |
| P27169 | 260 | 303 | 275 | 277 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| 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 |
| P27169 | 260 | 303 | 256 | 263 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 265 | 273 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 280 | 286 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 302 | 308 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 2 | 355 | Chain | ID=PRO_0000223281;Note=Serum paraoxonase/arylesterase 1 |
| P27169 | 260 | 303 | 42 | 353 | Disulfide bond | Note=In form B;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15098021,ECO:0000269|PubMed:8292612;Dbxref=PMID:15098021,PMID:8292612 |
| P27169 | 260 | 303 | 270 | 270 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P27169 | 260 | 303 | 288 | 292 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
| P27169 | 260 | 303 | 269 | 269 | Metal binding | Note=Calcium 1%3B catalytic |
| P27169 | 260 | 303 | 270 | 270 | Metal binding | Note=Calcium 1%3B catalytic |
| P27169 | 260 | 303 | 284 | 284 | Mutagenesis | Note=No loss of activity. C->A%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7638166;Dbxref=PMID:7638166 |
| P27169 | 260 | 303 | 275 | 277 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1V04 |
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SNVs in the skipped exons for PON1 |
| - 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 |
| SKCM | TCGA-BF-AAP2-01 | exon_skip_477260 | 94931517 | 94931645 | 94931583 | 94931583 | Nonsense_Mutation | C | T | p.W281* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_477261 | 94935597 | 94935678 | 94935616 | 94935616 | Nonsense_Mutation | C | T | p.W254* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_477261 | 94935597 | 94935678 | 94935616 | 94935616 | Nonsense_Mutation | C | T | p.W254X |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_477263 | 94947635 | 94947705 | 94947668 | 94947668 | Nonsense_Mutation | C | A | p.E38* |
| BLCA | TCGA-KQ-A41P-01 | exon_skip_477263 | 94947635 | 94947705 | 94947686 | 94947686 | Nonsense_Mutation | G | A | p.R32* |
| BLCA | TCGA-XF-A9ST-01 | exon_skip_477263 | 94947635 | 94947705 | 94947686 | 94947686 | Nonsense_Mutation | G | A | p.R32* |
| COAD | TCGA-CM-6162-01 | exon_skip_477263 | 94947635 | 94947705 | 94947701 | 94947701 | Nonsense_Mutation | G | A | p.R27X |
| LGG | TCGA-DU-7006-01 | exon_skip_477263 | 94947635 | 94947705 | 94947701 | 94947701 | Nonsense_Mutation | G | A | p.R27* |
| LUSC | TCGA-66-2777-01 | exon_skip_477263 | 94947635 | 94947705 | 94947701 | 94947701 | Nonsense_Mutation | G | A | p.R27* |
| - 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 |
| LN229_CENTRAL_NERVOUS_SYSTEM | 94931517 | 94931645 | 94931546 | 94931548 | In_Frame_Del | AGA | - | p.F293del |
| NCIH69_LUNG | 94931517 | 94931645 | 94931530 | 94931530 | Missense_Mutation | G | A | p.P299L |
| HS936T_SKIN | 94931517 | 94931645 | 94931578 | 94931578 | Missense_Mutation | C | T | p.G283E |
| ME180_CERVIX | 94935597 | 94935678 | 94935650 | 94935650 | Missense_Mutation | G | T | p.H243N |
| LOVO_LARGE_INTESTINE | 94947635 | 94947705 | 94947670 | 94947670 | Missense_Mutation | A | G | p.V37A |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94947635 | 94947705 | 94947701 | 94947701 | Nonsense_Mutation | G | A | p.R27* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PON1 |
| 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 PON1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PON1 |
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RelatedDrugs for PON1 |
| 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 |
| P27169 | DB01327 | Cefazolin | Serum paraoxonase/arylesterase 1 {ECO:0000303|PubMed:7916578} | small molecule | approved | |
| P27169 | DB01593 | Zinc | Serum paraoxonase/arylesterase 1 {ECO:0000303|PubMed:7916578} | small molecule | approved|investigational | |
| P27169 | DB14487 | Zinc acetate | Serum paraoxonase/arylesterase 1 {ECO:0000303|PubMed:7916578} | small molecule | approved|investigational | |
| P27169 | DB14533 | Zinc chloride | Serum paraoxonase/arylesterase 1 {ECO:0000303|PubMed:7916578} | small molecule | approved|investigational |
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RelatedDiseases for PON1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PON1 | C0004153 | Atherosclerosis | 6 | CTD_human |
| PON1 | C0700359 | Organophosphate poisoning | 4 | CTD_human |
| PON1 | C0004352 | Autistic Disorder | 3 | CTD_human |
| PON1 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| PON1 | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
| PON1 | C1956346 | Coronary Artery Disease | 3 | CTD_human |
| PON1 | C0007222 | Cardiovascular Diseases | 2 | CTD_human |
| PON1 | C0010068 | Coronary heart disease | 2 | CTD_human |
| PON1 | C0011849 | Diabetes Mellitus | 2 | CTD_human |
| PON1 | C0011884 | Diabetic Retinopathy | 2 | CTD_human |
| PON1 | C0020445 | Hypercholesterolemia, Familial | 2 | CTD_human |
| PON1 | C0021364 | Male infertility | 2 | CTD_human |
| PON1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| PON1 | C0598608 | Hyperhomocysteinemia | 2 | CTD_human |
| PON1 | C0687132 | heavy drinking | 2 | PSYGENET |
| PON1 | C0001828 | Agricultural Workers' Diseases | 1 | CTD_human |
| PON1 | C0001969 | Alcoholic Intoxication | 1 | PSYGENET |
| PON1 | C0003860 | Arteritis | 1 | CTD_human |
| PON1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| PON1 | C0005612 | Birth Weight | 1 | CTD_human |
| PON1 | C0006118 | Brain Neoplasms | 1 | CTD_human |
| PON1 | C0009806 | Constipation | 1 | CTD_human |
| PON1 | C0010073 | Coronary Artery Vasospasm | 1 | CTD_human |
| PON1 | C0011581 | Depressive disorder | 1 | CTD_human;HPO |
| PON1 | C0015695 | Fatty Liver | 1 | CTD_human |
| PON1 | C0017662 | Glomerulonephritis, Membranoproliferative | 1 | CTD_human |
| PON1 | C0018801 | Heart failure | 1 | CTD_human |
| PON1 | C0019112 | Hemorrhoids | 1 | CTD_human |
| PON1 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
| PON1 | C0020476 | Hyperlipoproteinemias | 1 | CTD_human |
| PON1 | C0020550 | Hyperthyroidism | 1 | CTD_human |
| PON1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| PON1 | C0024299 | Lymphoma | 1 | CTD_human |
| PON1 | C0028797 | Occupational Diseases | 1 | CTD_human |
| PON1 | C0030569 | Secondary Parkinson Disease | 1 | CTD_human |
| PON1 | C0080178 | Spina Bifida | 1 | CTD_human |
| PON1 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
| PON1 | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
| PON1 | C0282550 | Persian Gulf Syndrome | 1 | CTD_human |
| PON1 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
| PON1 | C0524620 | Metabolic Syndrome X | 1 | CTD_human |
| PON1 | C0853193 | Bipolar I disorder | 1 | PSYGENET |
| PON1 | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| PON1 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
| PON1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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