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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 PTTG1IP |
 Gene summary |
| Gene information | Gene symbol | PTTG1IP | Gene ID | 754 |
| Gene name | PTTG1 interacting protein | |
| Synonyms | C21orf1|C21orf3|PBF | |
| Cytomap | 21q22.3 | |
| Type of gene | protein-coding | |
| Description | pituitary tumor-transforming gene 1 protein-interacting proteinPTTG-binding factorpituitary tumor-transforming 1 interacting proteinpituitary tumor-transforming gene protein-binding factor | |
| Modification date | 20180523 | |
| UniProtAcc | P53801 | |
| Context | PubMed: PTTG1IP [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 |
| PTTG1IP | GO:0006606 | protein import into nucleus | 10781616 |
| PTTG1IP | GO:0031398 | positive regulation of protein ubiquitination | 24506068 |
| PTTG1IP | GO:1903364 | positive regulation of cellular protein catabolic process | 24506068 |
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Exon skipping events across known transcript of Ensembl for PTTG1IP 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 PTTG1IP |
| 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 PTTG1IP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_362654 | 21 | 46271321:46271542:46275124:46275171:46276107:46276191 | 46275124:46275171 | ENSG00000183255.7 | ENST00000330938.3,ENST00000397886.3 |
| exon_skip_362664 | 21 | 46271321:46271542:46281077:46281186:46285309:46285362 | 46281077:46281186 | ENSG00000183255.7 | ENST00000397887.3 |
| exon_skip_362667 | 21 | 46271321:46271542:46285309:46285362:46293416:46293583 | 46285309:46285362 | ENSG00000183255.7 | ENST00000445724.2 |
| exon_skip_362674 | 21 | 46276268:46276279:46281077:46281186:46285309:46285362 | 46281077:46281186 | ENSG00000183255.7 | ENST00000330938.3,ENST00000494690.1 |
| exon_skip_362680 | 21 | 46281088:46281186:46285309:46285362:46293416:46293583 | 46285309:46285362 | ENSG00000183255.7 | ENST00000330938.3 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENSG00000183255.7 | ENST00000494690.1 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENSG00000183255.7 | ENST00000480234.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTTG1IP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_362654 | 21 | 46271321:46271542:46275124:46275171:46276107:46276191 | 46275124:46275171 | ENSG00000183255.7 | ENST00000330938.3,ENST00000397886.3 |
| exon_skip_362664 | 21 | 46271321:46271542:46281077:46281186:46285309:46285362 | 46281077:46281186 | ENSG00000183255.7 | ENST00000397887.3 |
| exon_skip_362667 | 21 | 46271321:46271542:46285309:46285362:46293416:46293583 | 46285309:46285362 | ENSG00000183255.7 | ENST00000445724.2 |
| exon_skip_362674 | 21 | 46276268:46276279:46281077:46281186:46285309:46285362 | 46281077:46281186 | ENSG00000183255.7 | ENST00000330938.3,ENST00000494690.1 |
| exon_skip_362680 | 21 | 46281088:46281186:46285309:46285362:46293416:46293583 | 46285309:46285362 | ENSG00000183255.7 | ENST00000330938.3 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENSG00000183255.7 | ENST00000494690.1 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENSG00000183255.7 | ENST00000480234.1 |
| 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 PTTG1IP |
| 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 |
| ENST00000330938 | 46275124 | 46275171 | Frame-shift |
| ENST00000330938 | 46281077 | 46281186 | Frame-shift |
| ENST00000330938 | 46285309 | 46285362 | 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 |
| ENST00000330938 | 46275124 | 46275171 | Frame-shift |
| ENST00000330938 | 46281077 | 46281186 | Frame-shift |
| ENST00000330938 | 46285309 | 46285362 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PTTG1IP |
| 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 PTTG1IP |
| - 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-G3-A3CJ-01 | exon_skip_362654 | 46275125 | 46275171 | 46275129 | 46275129 | Frame_Shift_Del | T | - | p.K164fs |
| STAD | TCGA-BR-8382-01 | exon_skip_362654 | 46275125 | 46275171 | 46275129 | 46275129 | Frame_Shift_Del | T | - | p.Y165fs |
| LIHC | TCGA-CC-5258-01 | exon_skip_362674 exon_skip_362664 | 46281078 | 46281186 | 46281119 | 46281120 | Frame_Shift_Ins | - | A | p.S79fs |
| BLCA | TCGA-CF-A47X-01 | exon_skip_362680 exon_skip_362667 | 46285310 | 46285362 | 46285354 | 46285354 | Nonsense_Mutation | G | A | p.Q42* |
| - 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 | 46275125 | 46275171 | 46275129 | 46275129 | Frame_Shift_Del | T | - | p.K164fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46275125 | 46275171 | 46275160 | 46275160 | Missense_Mutation | A | G | p.M154T |
| JHH2_LIVER | 46281078 | 46281186 | 46281171 | 46281171 | Missense_Mutation | T | C | p.T62A |
| HEC59_ENDOMETRIUM | 46285310 | 46285362 | 46285323 | 46285323 | Missense_Mutation | A | G | p.L52P |
| MEWO_SKIN | 46285310 | 46285362 | 46285333 | 46285333 | Missense_Mutation | C | T | p.E49K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTTG1IP |
| 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_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENST00000480234.1 | BLCA | rs235282 | chr21:46285561 | C/T | 1.06e-04 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENST00000480234.1 | BLCA | rs235282 | chr21:46285561 | C/T | 1.36e-03 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENST00000480234.1 | HNSC | rs235282 | chr21:46285561 | C/T | 4.24e-05 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENST00000480234.1 | HNSC | rs235282 | chr21:46285561 | C/T | 8.05e-05 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENST00000480234.1 | LIHC | rs235282 | chr21:46285561 | C/T | 4.28e-07 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENST00000480234.1 | LIHC | rs235282 | chr21:46285561 | C/T | 9.05e-07 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENST00000480234.1 | THCA | rs235282 | chr21:46285561 | C/T | 2.19e-04 |
| exon_skip_362686 | 21 | 46285309:46285362:46285485:46285565:46293416:46293583 | 46285485:46285565 | ENST00000480234.1 | THCA | rs235282 | chr21:46285561 | C/T | 2.19e-04 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENST00000494690.1 | BLCA | rs235282 | chr21:46285561 | C/T | 1.06e-04 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENST00000494690.1 | BLCA | rs235282 | chr21:46285561 | C/T | 1.36e-03 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENST00000494690.1 | HNSC | rs235282 | chr21:46285561 | C/T | 4.24e-05 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENST00000494690.1 | HNSC | rs235282 | chr21:46285561 | C/T | 8.05e-05 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENST00000494690.1 | LIHC | rs235282 | chr21:46285561 | C/T | 4.28e-07 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENST00000494690.1 | LIHC | rs235282 | chr21:46285561 | C/T | 9.05e-07 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENST00000494690.1 | THCA | rs235282 | chr21:46285561 | C/T | 2.19e-04 |
| exon_skip_362685 | 21 | 46285309:46285362:46285485:46285565:46292768:46292947 | 46285485:46285565 | ENST00000494690.1 | THCA | rs235282 | chr21:46285561 | C/T | 2.19e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTTG1IP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTTG1IP |
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RelatedDrugs for PTTG1IP |
| 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 PTTG1IP |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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