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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 PIWIL1 |
 Gene summary |
| Gene information | Gene symbol | PIWIL1 | Gene ID | 9271 |
| Gene name | piwi like RNA-mediated gene silencing 1 | |
| Synonyms | CT80.1|HIWI|MIWI|PIWI | |
| Cytomap | 12q24.33 | |
| Type of gene | protein-coding | |
| Description | piwi-like protein 1piwi homolog | |
| Modification date | 20180519 | |
| UniProtAcc | Q96J94 | |
| Context | PubMed: PIWIL1 [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 PIWIL1 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 PIWIL1 |
| 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 PIWIL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_88518 | 12 | 130839432:130839550:130840097:130840212:130841462:130841650 | 130840097:130840212 | ENSG00000125207.3 | ENST00000245255.3 |
| exon_skip_88521 | 12 | 130840097:130840212:130841462:130841650:130842025:130842098 | 130841462:130841650 | ENSG00000125207.3 | ENST00000245255.3 |
| exon_skip_88522 | 12 | 130842025:130842098:130845724:130845925:130846042:130846146 | 130845724:130845925 | ENSG00000125207.3 | ENST00000245255.3 |
| exon_skip_88525 | 12 | 130846042:130846146:130847310:130847381:130847535:130847689 | 130847310:130847381 | ENSG00000125207.3 | ENST00000245255.3 |
| exon_skip_88528 | 12 | 130847535:130847689:130851677:130851803:130855720:130855868 | 130851677:130851803 | ENSG00000125207.3 | ENST00000245255.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PIWIL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_88518 | 12 | 130839432:130839550:130840097:130840212:130841462:130841650 | 130840097:130840212 | ENSG00000125207.3 | ENST00000245255.3 |
| exon_skip_88521 | 12 | 130840097:130840212:130841462:130841650:130842025:130842098 | 130841462:130841650 | ENSG00000125207.3 | ENST00000245255.3 |
| exon_skip_88525 | 12 | 130846042:130846146:130847310:130847381:130847535:130847689 | 130847310:130847381 | ENSG00000125207.3 | ENST00000245255.3 |
| exon_skip_88528 | 12 | 130847535:130847689:130851677:130851803:130855720:130855868 | 130851677:130851803 | ENSG00000125207.3 | ENST00000245255.3 |
| 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 PIWIL1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PIWIL1 |
| 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 PIWIL1 |
| - 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_88522 | 130845725 | 130845925 | 130845773 | 130845773 | Frame_Shift_Del | A | - | p.K573fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_88522 | 130845725 | 130845925 | 130845773 | 130845773 | Frame_Shift_Del | A | - | p.K573fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_88522 | 130845725 | 130845925 | 130845801 | 130845801 | Frame_Shift_Del | C | - | p.T581fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_88522 | 130845725 | 130845925 | 130845801 | 130845801 | Frame_Shift_Del | C | - | p.T581fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_88528 | 130851678 | 130851803 | 130851724 | 130851724 | Frame_Shift_Del | T | - | p.F749fs |
| LUSC | TCGA-66-2786-01 | exon_skip_88518 | 130840098 | 130840212 | 130840130 | 130840130 | Nonsense_Mutation | G | A | p.W441* |
| SKCM | TCGA-GF-A6C9-06 | exon_skip_88518 | 130840098 | 130840212 | 130840207 | 130840207 | Nonsense_Mutation | A | T | p.K467* |
| STAD | TCGA-D7-6519-01 | exon_skip_88521 | 130841463 | 130841650 | 130841471 | 130841471 | Nonsense_Mutation | C | A | p.Y471* |
| STAD | TCGA-D7-6519-01 | exon_skip_88521 | 130841463 | 130841650 | 130841471 | 130841471 | Nonsense_Mutation | C | A | p.Y471X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_88521 | 130841463 | 130841650 | 130841499 | 130841499 | Nonsense_Mutation | G | T | p.E481* |
| HNSC | TCGA-UF-A71D-01 | exon_skip_88521 | 130841463 | 130841650 | 130841546 | 130841546 | Nonsense_Mutation | G | A | p.W496* |
| LUAD | TCGA-55-A4DF-01 | exon_skip_88521 | 130841463 | 130841650 | 130841562 | 130841562 | Nonsense_Mutation | C | T | p.R502* |
| THYM | TCGA-3G-AB0Q-01 | exon_skip_88522 | 130845725 | 130845925 | 130845896 | 130845896 | Nonsense_Mutation | G | T | p.G613X |
| BLCA | TCGA-XF-A9T0-01 | exon_skip_88528 | 130851678 | 130851803 | 130851733 | 130851733 | Nonsense_Mutation | C | T | p.Q751* |
| COAD | TCGA-CA-5796-01 | exon_skip_88522 | 130845725 | 130845925 | 130845926 | 130845926 | Splice_Site | G | A | . |
| - 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 |
| DV90_LUNG | 130845725 | 130845925 | 130845773 | 130845773 | Frame_Shift_Del | A | - | p.K573fs |
| KM12_LARGE_INTESTINE | 130845725 | 130845925 | 130845773 | 130845773 | Frame_Shift_Del | A | - | p.K573fs |
| HS746T_STOMACH | 130840098 | 130840212 | 130840135 | 130840135 | Missense_Mutation | T | A | p.L443M |
| MFE319_ENDOMETRIUM | 130840098 | 130840212 | 130840187 | 130840187 | Missense_Mutation | A | G | p.E460G |
| NCIH650_LUNG | 130841463 | 130841650 | 130841485 | 130841485 | Missense_Mutation | C | A | p.A476E |
| CW2_LARGE_INTESTINE | 130841463 | 130841650 | 130841506 | 130841506 | Missense_Mutation | G | T | p.R483I |
| SJSA1_BONE | 130841463 | 130841650 | 130841574 | 130841574 | Missense_Mutation | G | A | p.E506K |
| NCIH196_LUNG | 130845725 | 130845925 | 130845731 | 130845731 | Missense_Mutation | T | C | p.C558R |
| HEC265_ENDOMETRIUM | 130845725 | 130845925 | 130845813 | 130845813 | Missense_Mutation | G | A | p.C585Y |
| NCIH446_LUNG | 130845725 | 130845925 | 130845872 | 130845872 | Missense_Mutation | G | T | p.A605S |
| EFO27_OVARY | 130847311 | 130847381 | 130847373 | 130847373 | Missense_Mutation | G | A | p.C678Y |
| HCC461_LUNG | 130851678 | 130851803 | 130851689 | 130851689 | Missense_Mutation | C | T | p.T736M |
| HT115_LARGE_INTESTINE | 130840098 | 130840212 | 130840123 | 130840123 | Nonsense_Mutation | C | T | p.R439* |
| MDAMB415_BREAST | 130845725 | 130845925 | 130845925 | 130845925 | Splice_Site | C | T | p.P622P |
| MCIXC_AUTONOMIC_GANGLIA | 130847311 | 130847381 | 130847381 | 130847381 | Splice_Site | G | A | p.A681T |
| CW2_LARGE_INTESTINE | 130851678 | 130851803 | 130851678 | 130851678 | Splice_Site | C | T | p.N732N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIWIL1 |
| 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 PIWIL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIWIL1 |
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RelatedDrugs for PIWIL1 |
| 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 PIWIL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PIWIL1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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