|
Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for PIWIL2 |
Gene summary |
Gene information | Gene symbol | PIWIL2 | Gene ID | 55124 |
Gene name | piwi like RNA-mediated gene silencing 2 | |
Synonyms | CT80|HILI|PIWIL1L|mili | |
Cytomap | 8p21.3 | |
Type of gene | protein-coding | |
Description | piwi-like protein 280kDa PIWIL2 short isoformcancer/testis antigen 80piwi-like 2piwil2-like proteintesticular tissue protein Li 141 | |
Modification date | 20180519 | |
UniProtAcc | Q8TC59 | |
Context | PubMed: PIWIL2 [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 |
Top |
Exon skipping events across known transcript of Ensembl for PIWIL2 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. |
Top |
Gene isoform structures and expression levels for PIWIL2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for PIWIL2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_482069 | 8 | 22210471:22210725:22211783:22211891:22212861:22213029 | 22211783:22211891 | ENSG00000197181.7 | ENST00000454009.2,ENST00000356766.6,ENST00000519884.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for PIWIL2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_482069 | 8 | 22210471:22210725:22211783:22211891:22212861:22213029 | 22211783:22211891 | ENSG00000197181.7 | ENST00000356766.6,ENST00000454009.2,ENST00000519884.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PIWIL2 |
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 |
ENST00000356766 | 22211783 | 22211891 | In-frame |
ENST00000454009 | 22211783 | 22211891 | 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 |
ENST00000356766 | 22211783 | 22211891 | In-frame |
ENST00000454009 | 22211783 | 22211891 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PIWIL2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000356766 | 5145 | 973 | 22211783 | 22211891 | 2806 | 2913 | 886 | 921 |
ENST00000454009 | 3459 | 973 | 22211783 | 22211891 | 3167 | 3274 | 886 | 921 |
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 |
ENST00000356766 | 5145 | 973 | 22211783 | 22211891 | 2806 | 2913 | 886 | 921 |
ENST00000454009 | 3459 | 973 | 22211783 | 22211891 | 3167 | 3274 | 886 | 921 |
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 |
Top |
SNVs in the skipped exons for PIWIL2 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
- 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 |
SNU685_ENDOMETRIUM | 22211784 | 22211891 | 22211809 | 22211809 | Missense_Mutation | C | A | p.H895N |
LOVO_LARGE_INTESTINE | 22211784 | 22211891 | 22211886 | 22211886 | Missense_Mutation | G | A | p.M920I |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIWIL2 |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIWIL2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIWIL2 |
Top |
RelatedDrugs for PIWIL2 |
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 |
Top |
RelatedDiseases for PIWIL2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |