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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 JAK3 |
 Gene summary |
| Gene information | Gene symbol | JAK3 | Gene ID | 3718 |
| Gene name | Janus kinase 3 | |
| Synonyms | JAK-3|JAK3_HUMAN|JAKL|L-JAK|LJAK | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | tyrosine-protein kinase JAK3Janus kinase 3 (a protein tyrosine kinase, leukocyte)leukocyte Janus kinase | |
| Modification date | 20200315 | |
| 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 |
| JAK3 | GO:0035771 | interleukin-4-mediated signaling pathway | 7538655 |
| JAK3 | GO:0070670 | response to interleukin-4 | 7538655|7594533 |
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Gene structures and expression levels for JAK3 |
| 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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ENSG00000105639
| 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 | ENST00000527031.5 | JAK3-203:retained_intron:JAK3 | 5.413355e+01 | -9.833415e-01 | 6.926267e-08 | 1.556809e-06 |
| 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 JAK3 |
| 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_10257 | chr19 | 17843380:17843491:17843777:17843900:17844234:17844430 | 17843777:17843900 |
| exon_skip_228809 | chr19 | 17838270:17838390:17839180:17839293:17839477:17839663 | 17839180:17839293 |
| exon_skip_257285 | chr19 | 17835083:17835215:17835924:17836051:17837129:17837213 | 17835924:17836051 |
| exon_skip_40324 | chr19 | 17841389:17841546:17841640:17841762:17842316:17842525 | 17841640:17841762 |
| exon_skip_9373 | chr19 | 17835924:17836051:17837129:17837213:17837932:17838063 | 17837129:17837213 |
| 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 JAK3 |
| 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 |
| ENST00000458235 | 17843777 | 17843900 | Frame-shift |
| ENST00000527670 | 17843777 | 17843900 | Frame-shift |
| ENST00000458235 | 17841640 | 17841762 | In-frame |
| ENST00000527670 | 17841640 | 17841762 | 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 |
| ENST00000458235 | 17841640 | 17841762 | In-frame |
| ENST00000527670 | 17841640 | 17841762 | 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 |
| ENST00000458235 | 17835924 | 17836051 | Frame-shift |
| ENST00000527670 | 17835924 | 17836051 | Frame-shift |
| ENST00000458235 | 17837129 | 17837213 | Frame-shift |
| ENST00000527670 | 17837129 | 17837213 | Frame-shift |
| ENST00000458235 | 17841640 | 17841762 | In-frame |
| ENST00000527670 | 17841640 | 17841762 | In-frame |
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Infer the effects of exon skipping event on protein functional features for JAK3 |
p-ENSG00000105639_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 |
| ENST00000458235 | 5449 | 1124 | 17841640 | 17841762 | 962 | 1083 | 287 | 327 |
| ENST00000527670 | 4013 | 1124 | 17841640 | 17841762 | 892 | 1013 | 287 | 327 |
| 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 |
| ENST00000458235 | 5449 | 1124 | 17841640 | 17841762 | 962 | 1083 | 287 | 327 |
| ENST00000527670 | 4013 | 1124 | 17841640 | 17841762 | 892 | 1013 | 287 | 327 |
| 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 |
| ENST00000458235 | 5449 | 1124 | 17841640 | 17841762 | 962 | 1083 | 287 | 327 |
| ENST00000527670 | 4013 | 1124 | 17841640 | 17841762 | 892 | 1013 | 287 | 327 |
| 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 |
| P52333 | 287 | 327 | 1 | 1124 | Chain | ID=PRO_0000088115;Note=Tyrosine-protein kinase JAK3 |
| P52333 | 287 | 327 | 1 | 1124 | Chain | ID=PRO_0000088115;Note=Tyrosine-protein kinase JAK3 |
| P52333 | 287 | 327 | 24 | 356 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P52333 | 287 | 327 | 24 | 356 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P52333 | 287 | 327 | 287 | 287 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P52333 | 287 | 327 | 287 | 287 | Sequence conflict | Note=Missing;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 |
| P52333 | 287 | 327 | 1 | 1124 | Chain | ID=PRO_0000088115;Note=Tyrosine-protein kinase JAK3 |
| P52333 | 287 | 327 | 1 | 1124 | Chain | ID=PRO_0000088115;Note=Tyrosine-protein kinase JAK3 |
| P52333 | 287 | 327 | 24 | 356 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P52333 | 287 | 327 | 24 | 356 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P52333 | 287 | 327 | 287 | 287 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P52333 | 287 | 327 | 287 | 287 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P52333 | 287 | 327 | 1 | 1124 | Chain | ID=PRO_0000088115;Note=Tyrosine-protein kinase JAK3 |
| P52333 | 287 | 327 | 1 | 1124 | Chain | ID=PRO_0000088115;Note=Tyrosine-protein kinase JAK3 |
| P52333 | 287 | 327 | 24 | 356 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P52333 | 287 | 327 | 24 | 356 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P52333 | 287 | 327 | 287 | 287 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P52333 | 287 | 327 | 287 | 287 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in JAK3 |
| 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 JAK3 |
| - 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 JAK3 |
| 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 JAK3 |
| 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 JAK3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for JAK3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P52333 | approved|investigational | DB08895 | Tofacitinib | small molecule | P52333 |
| P52333 | approved|investigational | DB11817 | Baricitinib | small molecule | P52333 |
| P52333 | approved|investigational | DB12010 | Fostamatinib | small molecule | P52333 |
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RelatedDiseases for JAK3 |
| 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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