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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 PAX8 |
 Gene summary |
| Gene information | Gene symbol | PAX8 | Gene ID | 7849 |
| Gene name | paired box 8 | |
| Synonyms | - | |
| Cytomap | 2q14.1 | |
| Type of gene | protein-coding | |
| Description | paired box protein Pax-8paired domain gene 8 | |
| 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 |
| PAX8 | GO:0006351 | transcription, DNA-templated | 9590296 |
| PAX8 | GO:0045893 | positive regulation of transcription, DNA-templated | 9388203|15356023|15961562 |
| PAX8 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9388203 |
| PAX8 | GO:0071371 | cellular response to gonadotropin stimulus | 15961562 |
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Gene structures and expression levels for PAX8 |
| 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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ENSG00000125618
| 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 |
| PG | UP | ENST00000669027.1 | PAX8-AS1-230:lncRNA:PAX8 | 2.506087e+00 | 3.828705e+00 | 1.318093e-03 | 1.777600e-02 |
| TC | UP | ENST00000663248.1 | PAX8-AS1-226:lncRNA:PAX8 | 1.600963e+01 | 8.044683e-01 | 1.227053e-03 | 1.156007e-02 |
| 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 PAX8 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_182626 | chr2 | 113227155:113227256:113235394:113235582:113236601:113236721 | 113235394:113235582 |
| 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 PAX8 |
| 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 |
| ENST00000263334 | 113235394 | 113235582 | In-frame |
| ENST00000429538 | 113235394 | 113235582 | 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PAX8 |
p-ENSG00000125618_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 |
| ENST00000263334 | 4169 | 450 | 113235394 | 113235582 | 1162 | 1349 | 299 | 362 |
| ENST00000429538 | 4101 | 450 | 113235394 | 113235582 | 1094 | 1281 | 299 | 362 |
| 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 |
| 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 |
| 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 |
| Q06710 | 299 | 362 | 260 | 450 | Alternative sequence | ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS |
| Q06710 | 299 | 362 | 260 | 450 | Alternative sequence | ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS |
| Q06710 | 299 | 362 | 260 | 450 | Alternative sequence | ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC; |
| Q06710 | 299 | 362 | 260 | 450 | Alternative sequence | ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC; |
| Q06710 | 299 | 362 | 300 | 450 | Alternative sequence | ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW |
| Q06710 | 299 | 362 | 300 | 450 | Alternative sequence | ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW |
| Q06710 | 299 | 362 | 300 | 362 | Alternative sequence | ID=VSP_002372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1337742;Dbxref=PMID:1337742 |
| Q06710 | 299 | 362 | 300 | 362 | Alternative sequence | ID=VSP_002372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1337742;Dbxref=PMID:1337742 |
| Q06710 | 299 | 362 | 1 | 450 | Chain | ID=PRO_0000050197;Note=Paired box protein Pax-8 |
| Q06710 | 299 | 362 | 1 | 450 | Chain | ID=PRO_0000050197;Note=Paired box protein Pax-8 |
| Q06710 | 299 | 362 | 315 | 327 | Compositional bias | Note=Ser-rich |
| Q06710 | 299 | 362 | 315 | 327 | Compositional bias | Note=Ser-rich |
| Q06710 | 299 | 362 | 303 | 303 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q00288 |
| Q06710 | 299 | 362 | 303 | 303 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q00288 |
| Q06710 | 299 | 362 | 329 | 329 | Natural variant | ID=VAR_012773;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1337742;Dbxref=dbSNP:rs3188996,PMID:1337742 |
| Q06710 | 299 | 362 | 329 | 329 | Natural variant | ID=VAR_012773;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1337742;Dbxref=dbSNP:rs3188996,PMID:1337742 |
| Q06710 | 299 | 362 | 305 | 305 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q06710 | 299 | 362 | 305 | 305 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q06710 | 299 | 362 | 322 | 322 | Sequence conflict | Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q06710 | 299 | 362 | 322 | 322 | Sequence conflict | Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PAX8 |
| 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 PAX8 |
| - 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 PAX8 |
| 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 PAX8 |
| 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 PAX8 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PAX8 |
| 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 PAX8 |
| 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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