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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 PTER |
 Gene summary |
| Gene information | Gene symbol | PTER | Gene ID | 9317 |
| Gene name | phosphotriesterase related | |
| Synonyms | HPHRP|RPR-1 | |
| Cytomap | 10p13 | |
| Type of gene | protein-coding | |
| Description | phosphotriesterase-related proteinparathion hydrolase-related proteinresiniferatoxin-binding, phosphotriesterase-related | |
| Modification date | 20180523 | |
| UniProtAcc | Q96BW5 | |
| Context | PubMed: PTER [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 PTER 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 PTER |
| 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 PTER |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39875 | 10 | 16478982:16479046:16479355:16479489:16526335:16526815 | 16479355:16479489 | ENSG00000165983.10 | ENST00000378000.1 |
| exon_skip_39893 | 10 | 16478982:16479046:16526335:16526815:16528350:16528616 | 16526335:16526815 | ENSG00000165983.10 | ENST00000423462.2 |
| exon_skip_39899 | 10 | 16479361:16479489:16526335:16526815:16528350:16528616 | 16526335:16526815 | ENSG00000165983.10 | ENST00000378000.1 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENSG00000165983.10 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTER |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39875 | 10 | 16478982:16479046:16479355:16479489:16526335:16526815 | 16479355:16479489 | ENSG00000165983.10 | ENST00000378000.1 |
| exon_skip_39893 | 10 | 16478982:16479046:16526335:16526815:16528350:16528616 | 16526335:16526815 | ENSG00000165983.10 | ENST00000423462.2 |
| exon_skip_39899 | 10 | 16479361:16479489:16526335:16526815:16528350:16528616 | 16526335:16526815 | ENSG00000165983.10 | ENST00000378000.1 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENSG00000165983.10 | ENST00000535784.2,ENST00000378000.1,ENST00000298942.3 |
| 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 PTER |
| 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 |
| ENST00000378000 | 16526335 | 16526815 | 5CDS-5UTR |
| ENST00000378000 | 16479355 | 16479489 | 5UTR-5UTR |
| ENST00000378000 | 16547018 | 16547159 | In-frame |
| ENST00000535784 | 16547018 | 16547159 | 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 |
| ENST00000378000 | 16526335 | 16526815 | 5CDS-5UTR |
| ENST00000378000 | 16479355 | 16479489 | 5UTR-5UTR |
| ENST00000378000 | 16547018 | 16547159 | In-frame |
| ENST00000535784 | 16547018 | 16547159 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PTER |
| 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 |
| ENST00000378000 | 3794 | 349 | 16547018 | 16547159 | 945 | 1085 | 233 | 279 |
| ENST00000535784 | 1220 | 349 | 16547018 | 16547159 | 852 | 992 | 233 | 279 |
| 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 |
| ENST00000378000 | 3794 | 349 | 16547018 | 16547159 | 945 | 1085 | 233 | 279 |
| ENST00000535784 | 1220 | 349 | 16547018 | 16547159 | 852 | 992 | 233 | 279 |
| 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 |
| Q96BW5 | 233 | 279 | 234 | 280 | Alternative sequence | ID=VSP_038342;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 234 | 280 | Alternative sequence | ID=VSP_038342;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 1 | 349 | Chain | ID=PRO_0000205364;Note=Phosphotriesterase-related protein |
| Q96BW5 | 233 | 279 | 1 | 349 | Chain | ID=PRO_0000205364;Note=Phosphotriesterase-related protein |
| Q96BW5 | 233 | 279 | 234 | 234 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 234 | 234 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 259 | 259 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 259 | 259 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q96BW5 | 233 | 279 | 234 | 280 | Alternative sequence | ID=VSP_038342;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 234 | 280 | Alternative sequence | ID=VSP_038342;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 1 | 349 | Chain | ID=PRO_0000205364;Note=Phosphotriesterase-related protein |
| Q96BW5 | 233 | 279 | 1 | 349 | Chain | ID=PRO_0000205364;Note=Phosphotriesterase-related protein |
| Q96BW5 | 233 | 279 | 234 | 234 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 234 | 234 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 259 | 259 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96BW5 | 233 | 279 | 259 | 259 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for PTER |
| - 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_39899 exon_skip_39893 | 16526336 | 16526815 | 16526415 | 16526415 | Frame_Shift_Del | T | - | p.V11fs |
| STAD | TCGA-BR-4362-01 | exon_skip_39899 exon_skip_39893 | 16526336 | 16526815 | 16526546 | 16526546 | Frame_Shift_Del | A | - | p.M54fs |
| STAD | TCGA-HU-A4GU-01 | exon_skip_39899 exon_skip_39893 | 16526336 | 16526815 | 16526567 | 16526567 | Frame_Shift_Del | A | - | p.Q61fs |
| COAD | TCGA-CM-4743-01 | exon_skip_39899 exon_skip_39893 | 16526336 | 16526815 | 16526700 | 16526701 | Frame_Shift_Del | AC | - | p.106_106del |
| STAD | TCGA-CG-5728-01 | exon_skip_39909 | 16547019 | 16547159 | 16547037 | 16547038 | Frame_Shift_Del | AG | - | p.239_239del |
| STAD | TCGA-CG-5728-01 | exon_skip_39909 | 16547019 | 16547159 | 16547037 | 16547038 | Frame_Shift_Del | AG | - | p.K239fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_39899 exon_skip_39893 | 16526336 | 16526815 | 16526545 | 16526546 | Frame_Shift_Ins | - | A | p.IK54fs |
| CESC | TCGA-FU-A3NI-01 | exon_skip_39899 exon_skip_39893 | 16526336 | 16526815 | 16526606 | 16526606 | Nonsense_Mutation | C | T | p.Q75* |
| LUAD | TCGA-55-1595-01 | exon_skip_39899 exon_skip_39893 | 16526336 | 16526815 | 16526805 | 16526805 | Nonsense_Mutation | C | G | p.S141* |
| - 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 |
| LS180_LARGE_INTESTINE | 16526336 | 16526815 | 16526448 | 16526448 | Missense_Mutation | G | A | p.R22H |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16526336 | 16526815 | 16526481 | 16526481 | Missense_Mutation | T | C | p.F33S |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16526336 | 16526815 | 16526526 | 16526526 | Missense_Mutation | C | A | p.S48Y |
| M00921_SKIN | 16526336 | 16526815 | 16526531 | 16526531 | Missense_Mutation | G | C | p.E50Q |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16526336 | 16526815 | 16526549 | 16526549 | Missense_Mutation | A | C | p.N56H |
| MFE296_ENDOMETRIUM | 16526336 | 16526815 | 16526577 | 16526577 | Missense_Mutation | A | C | p.Y65S |
| SNU81_LARGE_INTESTINE | 16526336 | 16526815 | 16526591 | 16526591 | Missense_Mutation | A | C | p.N70H |
| SARC9371_BONE | 16526336 | 16526815 | 16526619 | 16526619 | Missense_Mutation | C | T | p.A79V |
| NCIH2286_LUNG | 16526336 | 16526815 | 16526688 | 16526688 | Missense_Mutation | G | C | p.G102A |
| RT112_URINARY_TRACT | 16526336 | 16526815 | 16526709 | 16526709 | Missense_Mutation | C | T | p.T109M |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16526336 | 16526815 | 16526738 | 16526738 | Missense_Mutation | G | A | p.V119I |
| HEC1B_ENDOMETRIUM | 16526336 | 16526815 | 16526793 | 16526793 | Missense_Mutation | C | T | p.T137I |
| EKVX_LUNG | 16526336 | 16526815 | 16526797 | 16526797 | Missense_Mutation | G | T | p.R138S |
| PK1_PANCREAS | 16547019 | 16547159 | 16547031 | 16547031 | Missense_Mutation | T | G | p.D237E |
| SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16547019 | 16547159 | 16547069 | 16547069 | Missense_Mutation | A | G | p.Y250C |
| CAL51_BREAST | 16547019 | 16547159 | 16547126 | 16547126 | Missense_Mutation | T | C | p.I269T |
| HCC2998_LARGE_INTESTINE | 16526336 | 16526815 | 16526531 | 16526531 | Nonsense_Mutation | G | T | p.E50* |
| NCIH513_PLEURA | 16547019 | 16547159 | 16547032 | 16547032 | Nonsense_Mutation | A | T | p.K238* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTER |
| 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 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | COAD | rs7904014 | chr10:16547058 | A/G | 1.99e-03 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | HNSC | rs7904014 | chr10:16547058 | A/G | 6.78e-04 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | BRCA | rs7904014 | chr10:16547058 | A/G | 1.25e-11 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | BRCA | rs7904014 | chr10:16547058 | A/G | 2.44e-05 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | KIRC | rs7904014 | chr10:16547058 | A/G | 1.88e-04 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | LIHC | rs7904014 | chr10:16547058 | A/G | 1.32e-06 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | LUSC | rs7904014 | chr10:16547058 | A/G | 1.24e-04 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | PRAD | rs7904014 | chr10:16547058 | A/G | 5.17e-05 |
| exon_skip_39909 | 10 | 16528350:16528616:16547018:16547159:16553044:16553133 | 16547018:16547159 | ENST00000378000.1,ENST00000298942.3,ENST00000535784.2 | THCA | rs7904014 | chr10:16547058 | A/G | 3.76e-06 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTER |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTER |
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RelatedDrugs for PTER |
| 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 PTER |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PTER | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| PTER | C0023903 | Liver neoplasms | 1 | CTD_human |
| PTER | C0025202 | melanoma | 1 | CTD_human |
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