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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for PILRA |
 Gene summary |
| Gene information | Gene symbol | PILRA | Gene ID | 29992 |
| Gene name | paired immunoglobin like type 2 receptor alpha | |
| Synonyms | FDF03 | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | paired immunoglobulin-like type 2 receptor alphacell surface receptor FDF03inhibitory receptor PILR-alpha | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 30388101(Paired Immunoglobulin-like Type 2 Receptor Alpha G78R variant alters ligand binding and confers protection to Alzheimer's disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PILRA | GO:0007165 | signal transduction | 10903717 |
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Gene structures and expression levels for PILRA |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000085514
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000350573.2 | PILRA-202:protein_coding:PILRA | 8.796137e+01 | -1.029188e+00 | 3.674688e-10 | 1.907668e-08 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PILRA |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_139761 | chr7 | 100374044:100374433:100397879:100397912:100399291:100399340 | 100397879:100397912 |
| exon_skip_14484 | chr7 | 100374044:100374433:100389888:100390106:100397879:100397912 | 100389888:100390106 |
| exon_skip_166278 | chr7 | 100374056:100374433:100389888:100390106:100397879:100397912 | 100389888:100390106 |
| exon_skip_274723 | chr7 | 100389888:100390106:100397879:100397912:100399291:100399302 | 100397879:100397912 |
| exon_skip_286383 | chr7 | 100374044:100374433:100397879:100397912:100399291:100399302 | 100397879:100397912 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for PILRA |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000198536 | 100397879 | 100397912 | Frame-shift |
| ENST00000198536 | 100389888 | 100390106 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000198536 | 100397879 | 100397912 | Frame-shift |
| ENST00000198536 | 100389888 | 100390106 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000198536 | 100389888 | 100390106 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PILRA |
p-ENSG00000085514_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000198536 | 1333 | 303 | 100389888 | 100390106 | 668 | 885 | 152 | 224 |
| Loci of skipped exons in MSBB 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 |
| ENST00000198536 | 1333 | 303 | 100389888 | 100390106 | 668 | 885 | 152 | 224 |
| Loci of skipped exons in Mayo 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 |
| ENST00000198536 | 1333 | 303 | 100389888 | 100390106 | 668 | 885 | 152 | 224 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q9UKJ1 | 152 | 224 | 152 | 303 | Alternative sequence | ID=VSP_017500;Note=In isoform 4. AVTTTTQRPSSMTTTWRLSSTTTTTGLRVTQGKRRSDSWHISLETAVGVAVAVTVLGIMILGLICLLRWRRRKGQQRTKATTPAREPFQNTEEPYENIRNEGQNTDPKLNPKDDGIVYASLALSSSTSPRAPPSHRPLKSPQNETLYSVLKA->GNPSKTQRSHMRISGMKDKIQIPS;Ontology_term=ECO:0000303;evidence=ECO:0000 |
| Q9UKJ1 | 152 | 224 | 152 | 224 | Alternative sequence | ID=VSP_017501;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10903717;Dbxref=PMID:10903717 |
| Q9UKJ1 | 152 | 224 | 20 | 303 | Chain | ID=PRO_0000226821;Note=Paired immunoglobulin-like type 2 receptor alpha |
| Q9UKJ1 | 152 | 224 | 20 | 197 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UKJ1 | 152 | 224 | 219 | 303 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UKJ1 | 152 | 224 | 198 | 218 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q9UKJ1 | 152 | 224 | 152 | 303 | Alternative sequence | ID=VSP_017500;Note=In isoform 4. AVTTTTQRPSSMTTTWRLSSTTTTTGLRVTQGKRRSDSWHISLETAVGVAVAVTVLGIMILGLICLLRWRRRKGQQRTKATTPAREPFQNTEEPYENIRNEGQNTDPKLNPKDDGIVYASLALSSSTSPRAPPSHRPLKSPQNETLYSVLKA->GNPSKTQRSHMRISGMKDKIQIPS;Ontology_term=ECO:0000303;evidence=ECO:0000 |
| Q9UKJ1 | 152 | 224 | 152 | 224 | Alternative sequence | ID=VSP_017501;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10903717;Dbxref=PMID:10903717 |
| Q9UKJ1 | 152 | 224 | 20 | 303 | Chain | ID=PRO_0000226821;Note=Paired immunoglobulin-like type 2 receptor alpha |
| Q9UKJ1 | 152 | 224 | 20 | 197 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UKJ1 | 152 | 224 | 219 | 303 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UKJ1 | 152 | 224 | 198 | 218 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q9UKJ1 | 152 | 224 | 152 | 303 | Alternative sequence | ID=VSP_017500;Note=In isoform 4. AVTTTTQRPSSMTTTWRLSSTTTTTGLRVTQGKRRSDSWHISLETAVGVAVAVTVLGIMILGLICLLRWRRRKGQQRTKATTPAREPFQNTEEPYENIRNEGQNTDPKLNPKDDGIVYASLALSSSTSPRAPPSHRPLKSPQNETLYSVLKA->GNPSKTQRSHMRISGMKDKIQIPS;Ontology_term=ECO:0000303;evidence=ECO:0000 |
| Q9UKJ1 | 152 | 224 | 152 | 224 | Alternative sequence | ID=VSP_017501;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10903717;Dbxref=PMID:10903717 |
| Q9UKJ1 | 152 | 224 | 20 | 303 | Chain | ID=PRO_0000226821;Note=Paired immunoglobulin-like type 2 receptor alpha |
| Q9UKJ1 | 152 | 224 | 20 | 197 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UKJ1 | 152 | 224 | 219 | 303 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UKJ1 | 152 | 224 | 198 | 218 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PILRA |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for PILRA |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for PILRA |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PILRA |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PILRA |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PILRA |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PILRA |
| 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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