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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 PARD3B |
 Gene summary |
| Gene information | Gene symbol | PARD3B | Gene ID | 117583 |
| Gene name | par-3 family cell polarity regulator beta | |
| Synonyms | ALS2CR19|PAR3B|PAR3L|PAR3beta | |
| Cytomap | 2q33.3 | |
| Type of gene | protein-coding | |
| Description | partitioning defective 3 homolog BPAR3-L proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 proteinpar-3 partitioning defective 3 homolog Bpartitioning | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for PARD3B |
| 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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ENSG00000116117
| 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 |
| STG | UP | ENST00000614500.3 | PARD3B-213:protein_coding:PARD3B | 2.031946e+01 | 3.213534e+00 | 1.783927e-04 | 1.546039e-02 |
| TC | UP | ENST00000406610.7 | PARD3B-204:protein_coding:PARD3B | 1.271773e+02 | 8.038886e-01 | 3.188090e-07 | 1.592956e-05 |
| TC | UP | ENST00000415947.1 | PARD3B-205:nonsense_mediated_decay:PARD3B | 2.528684e+00 | 8.758446e-01 | 1.881157e-04 | 2.664927e-03 |
| 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 PARD3B |
| 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_173742 | chr2 | 205125609:205125737:205158722:205158907:205172211:205172381 | 205158722:205158907 |
| exon_skip_180471 | chr2 | 205245778:205245822:205301464:205301701:205401013:205401123 | 205301464:205301701 |
| exon_skip_197900 | chr2 | 205245778:205245822:205300530:205300736:205301464:205301701 | 205300530:205300736 |
| exon_skip_230902 | chr2 | 205401013:205401123:205440370:205440672:205499896:205500031 | 205440370:205440672 |
| exon_skip_47525 | chr2 | 205245778:205245822:205300530:205300736:205301464:205301511 | 205300530:205300736 |
| exon_skip_51644 | chr2 | 205047581:205047690:205104426:205104514:205113491:205113577 | 205104426:205104514 |
| 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 PARD3B |
| 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 |
| ENST00000406610 | 205104426 | 205104514 | Frame-shift |
| ENST00000406610 | 205158722 | 205158907 | In-frame |
| ENST00000406610 | 205300530 | 205300736 | In-frame |
| ENST00000406610 | 205440370 | 205440672 | 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 |
| ENST00000406610 | 205158722 | 205158907 | In-frame |
| ENST00000406610 | 205440370 | 205440672 | 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 |
| ENST00000406610 | 205158722 | 205158907 | In-frame |
| ENST00000406610 | 205300530 | 205300736 | In-frame |
| ENST00000406610 | 205440370 | 205440672 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PARD3B |
p-ENSG00000116117_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 |
| ENST00000406610 | 8191 | 1205 | 205158722 | 205158907 | 1643 | 1827 | 478 | 540 |
| ENST00000406610 | 8191 | 1205 | 205300530 | 205300736 | 2394 | 2599 | 729 | 797 |
| ENST00000406610 | 8191 | 1205 | 205440370 | 205440672 | 2950 | 3251 | 914 | 1014 |
| 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 |
| ENST00000406610 | 8191 | 1205 | 205158722 | 205158907 | 1643 | 1827 | 478 | 540 |
| ENST00000406610 | 8191 | 1205 | 205440370 | 205440672 | 2950 | 3251 | 914 | 1014 |
| 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 |
| ENST00000406610 | 8191 | 1205 | 205158722 | 205158907 | 1643 | 1827 | 478 | 540 |
| ENST00000406610 | 8191 | 1205 | 205300530 | 205300736 | 2394 | 2599 | 729 | 797 |
| ENST00000406610 | 8191 | 1205 | 205440370 | 205440672 | 2950 | 3251 | 914 | 1014 |
| 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 |
| Q8TEW8 | 478 | 540 | 80 | 1205 | Alternative sequence | ID=VSP_007477;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11586298;Dbxref=PMID:11586298 |
| Q8TEW8 | 478 | 540 | 479 | 540 | Alternative sequence | ID=VSP_007478;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12234671;Dbxref=PMID:12234671 |
| Q8TEW8 | 478 | 540 | 1 | 1205 | Chain | ID=PRO_0000185072;Note=Partitioning defective 3 homolog B |
| Q8TEW8 | 478 | 540 | 498 | 585 | Domain | Note=PDZ 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q8TEW8 | 729 | 797 | 80 | 1205 | Alternative sequence | ID=VSP_007477;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11586298;Dbxref=PMID:11586298 |
| Q8TEW8 | 729 | 797 | 729 | 797 | Alternative sequence | ID=VSP_054048;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEW8 | 729 | 797 | 730 | 798 | Alternative sequence | ID=VSP_007479;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12234671;Dbxref=PMID:12234671 |
| Q8TEW8 | 729 | 797 | 1 | 1205 | Chain | ID=PRO_0000185072;Note=Partitioning defective 3 homolog B |
| Q8TEW8 | 729 | 797 | 730 | 730 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CSB4 |
| Q8TEW8 | 729 | 797 | 746 | 746 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 |
| Q8TEW8 | 729 | 797 | 749 | 749 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CSB4 |
| Q8TEW8 | 914 | 1014 | 80 | 1205 | Alternative sequence | ID=VSP_007477;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11586298;Dbxref=PMID:11586298 |
| Q8TEW8 | 914 | 1014 | 914 | 1014 | Alternative sequence | ID=VSP_007543;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12459187;Dbxref=PMID:12459187 |
| Q8TEW8 | 914 | 1014 | 1 | 1205 | Chain | ID=PRO_0000185072;Note=Partitioning defective 3 homolog B |
| 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 |
| Q8TEW8 | 478 | 540 | 80 | 1205 | Alternative sequence | ID=VSP_007477;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11586298;Dbxref=PMID:11586298 |
| Q8TEW8 | 478 | 540 | 479 | 540 | Alternative sequence | ID=VSP_007478;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12234671;Dbxref=PMID:12234671 |
| Q8TEW8 | 478 | 540 | 1 | 1205 | Chain | ID=PRO_0000185072;Note=Partitioning defective 3 homolog B |
| Q8TEW8 | 478 | 540 | 498 | 585 | Domain | Note=PDZ 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q8TEW8 | 914 | 1014 | 80 | 1205 | Alternative sequence | ID=VSP_007477;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11586298;Dbxref=PMID:11586298 |
| Q8TEW8 | 914 | 1014 | 914 | 1014 | Alternative sequence | ID=VSP_007543;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12459187;Dbxref=PMID:12459187 |
| Q8TEW8 | 914 | 1014 | 1 | 1205 | Chain | ID=PRO_0000185072;Note=Partitioning defective 3 homolog B |
| 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 |
| Q8TEW8 | 478 | 540 | 80 | 1205 | Alternative sequence | ID=VSP_007477;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11586298;Dbxref=PMID:11586298 |
| Q8TEW8 | 478 | 540 | 479 | 540 | Alternative sequence | ID=VSP_007478;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12234671;Dbxref=PMID:12234671 |
| Q8TEW8 | 478 | 540 | 1 | 1205 | Chain | ID=PRO_0000185072;Note=Partitioning defective 3 homolog B |
| Q8TEW8 | 478 | 540 | 498 | 585 | Domain | Note=PDZ 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q8TEW8 | 729 | 797 | 80 | 1205 | Alternative sequence | ID=VSP_007477;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11586298;Dbxref=PMID:11586298 |
| Q8TEW8 | 729 | 797 | 729 | 797 | Alternative sequence | ID=VSP_054048;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEW8 | 729 | 797 | 730 | 798 | Alternative sequence | ID=VSP_007479;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12234671;Dbxref=PMID:12234671 |
| Q8TEW8 | 729 | 797 | 1 | 1205 | Chain | ID=PRO_0000185072;Note=Partitioning defective 3 homolog B |
| Q8TEW8 | 729 | 797 | 730 | 730 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CSB4 |
| Q8TEW8 | 729 | 797 | 746 | 746 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 |
| Q8TEW8 | 729 | 797 | 749 | 749 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CSB4 |
| Q8TEW8 | 914 | 1014 | 80 | 1205 | Alternative sequence | ID=VSP_007477;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11586298;Dbxref=PMID:11586298 |
| Q8TEW8 | 914 | 1014 | 914 | 1014 | Alternative sequence | ID=VSP_007543;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12459187;Dbxref=PMID:12459187 |
| Q8TEW8 | 914 | 1014 | 1 | 1205 | Chain | ID=PRO_0000185072;Note=Partitioning defective 3 homolog B |
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3'-UTR located exon skipping events that lost miRNA binding sites in PARD3B |
| 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 PARD3B |
| - 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 PARD3B |
| 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 PARD3B |
| 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 PARD3B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PARD3B |
| 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 PARD3B |
| 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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