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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 PTTG1 |
 Gene summary |
| Gene information | Gene symbol | PTTG1 | Gene ID | 9232 |
| Gene name | pituitary tumor-transforming 1 | |
| Synonyms | EAP1|HPTTG|PTTG|TUTR1 | |
| Cytomap | 5q33.3 | |
| Type of gene | protein-coding | |
| Description | securinESP1-associated protein 1pituitary tumor-transforming gene 1 proteintumor-transforming protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | O95997 | |
| Context | PubMed: PTTG1 [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 PTTG1 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 PTTG1 |
| 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 PTTG1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439294 | 5 | 159849213:159849243:159849346:159849410:159849715:159849900 | 159849346:159849410 | ENSG00000164611.8 | ENST00000519287.1 |
| exon_skip_439299 | 5 | 159849346:159849410:159849715:159849900:159851243:159851301 | 159849715:159849900 | ENSG00000164611.8 | ENST00000393964.1,ENST00000523659.1,ENST00000519287.1,ENST00000520452.1,ENST00000352433.5 |
| exon_skip_439302 | 5 | 159849715:159849900:159851243:159851337:159854721:159854880 | 159851243:159851337 | ENSG00000164611.8 | ENST00000393964.1,ENST00000519287.1,ENST00000520452.1,ENST00000352433.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTTG1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439294 | 5 | 159849213:159849243:159849346:159849410:159849715:159849900 | 159849346:159849410 | ENSG00000164611.8 | ENST00000519287.1 |
| exon_skip_439299 | 5 | 159849346:159849410:159849715:159849900:159851243:159851301 | 159849715:159849900 | ENSG00000164611.8 | ENST00000352433.5,ENST00000523659.1,ENST00000520452.1,ENST00000393964.1,ENST00000519287.1 |
| exon_skip_439302 | 5 | 159849715:159849900:159851243:159851337:159854721:159854880 | 159851243:159851337 | ENSG00000164611.8 | ENST00000352433.5,ENST00000520452.1,ENST00000393964.1,ENST00000519287.1 |
| 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 PTTG1 |
| 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 |
| ENST00000352433 | 159849715 | 159849900 | Frame-shift |
| ENST00000393964 | 159849715 | 159849900 | Frame-shift |
| ENST00000520452 | 159849715 | 159849900 | Frame-shift |
| ENST00000352433 | 159851243 | 159851337 | Frame-shift |
| ENST00000393964 | 159851243 | 159851337 | Frame-shift |
| ENST00000520452 | 159851243 | 159851337 | 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 |
| ENST00000352433 | 159849715 | 159849900 | Frame-shift |
| ENST00000393964 | 159849715 | 159849900 | Frame-shift |
| ENST00000520452 | 159849715 | 159849900 | Frame-shift |
| ENST00000352433 | 159851243 | 159851337 | Frame-shift |
| ENST00000393964 | 159851243 | 159851337 | Frame-shift |
| ENST00000520452 | 159851243 | 159851337 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PTTG1 |
| 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 |
| 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 |
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SNVs in the skipped exons for PTTG1 |
| - 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 |
| COAD | TCGA-CM-5861-01 | exon_skip_439294 | 159849347 | 159849410 | 159849397 | 159849397 | Frame_Shift_Del | G | - | p.L26fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_439299 | 159849716 | 159849900 | 159849839 | 159849839 | Frame_Shift_Del | A | - | p.E72fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_439302 | 159851244 | 159851337 | 159851311 | 159851311 | Frame_Shift_Del | A | - | p.E115fs |
| BLCA | TCGA-G2-A2ES-01 | exon_skip_439299 | 159849716 | 159849900 | 159849713 | 159849715 | Splice_Site | CAG | - | p.S31_splice |
| - 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 |
| HEC1A_ENDOMETRIUM | 159849716 | 159849900 | 159849740 | 159849740 | Missense_Mutation | C | A | p.S39Y |
| HEC1_ENDOMETRIUM | 159849716 | 159849900 | 159849740 | 159849740 | Missense_Mutation | C | A | p.S39Y |
| HEC1B_ENDOMETRIUM | 159849716 | 159849900 | 159849740 | 159849740 | Missense_Mutation | C | A | p.S39Y |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 159849716 | 159849900 | 159849772 | 159849772 | Missense_Mutation | T | A | p.F50I |
| MUTZ3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 159849716 | 159849900 | 159849863 | 159849863 | Missense_Mutation | C | T | p.P80L |
| MCC13_SKIN | 159851244 | 159851337 | 159851323 | 159851323 | Missense_Mutation | C | T | p.P119L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTTG1 |
| 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 PTTG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTTG1 |
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RelatedDrugs for PTTG1 |
| 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 PTTG1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PTTG1 | C0033860 | Psoriasis | 1 | CTD_human |
| PTTG1 | C1527336 | Sjogren's Syndrome | 1 | CTD_human |
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