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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 JAK2 |
 Gene summary |
| Gene information | Gene symbol | JAK2 | Gene ID | 3717 |
| Gene name | Janus kinase 2 | |
| Synonyms | JTK10|THCYT3 | |
| Cytomap | 9p24.1 | |
| Type of gene | protein-coding | |
| Description | tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase) | |
| Modification date | 20200329 | |
| 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 |
| JAK2 | GO:0010811 | positive regulation of cell-substrate adhesion | 10925297 |
| JAK2 | GO:0019221 | cytokine-mediated signaling pathway | 8609418 |
| JAK2 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 8609418 |
| JAK2 | GO:0034612 | response to tumor necrosis factor | 8609418 |
| JAK2 | GO:0035409 | histone H3-Y41 phosphorylation | 19783980 |
| JAK2 | GO:0035722 | interleukin-12-mediated signaling pathway | 7528775 |
| JAK2 | GO:0046677 | response to antibiotic | 16280321 |
| JAK2 | GO:0050727 | regulation of inflammatory response | 10925297 |
| JAK2 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
| JAK2 | GO:0070671 | response to interleukin-12 | 7528775 |
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Gene structures and expression levels for JAK2 |
| 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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ENSG00000096968
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 JAK2 |
| 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_120899 | chr9 | 5072492:5072626:5073698:5073785:5077453:5077580 | 5073698:5073785 |
| exon_skip_291207 | chr9 | 5123004:5123121:5126333:5126446:5126684:5126974 | 5126333:5126446 |
| exon_skip_39517 | chr9 | 4985245:4985630:4985940:4986022:5021963:5022065 | 4985940:4986022 |
| exon_skip_77794 | chr9 | 5080229:5080380:5080533:5080683:5081725:5081861 | 5080533:5080683 |
| exon_skip_87148 | chr9 | 5073698:5073785:5077453:5077580:5078306:5078444 | 5077453:5077580 |
| 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 JAK2 |
| 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 |
| ENST00000381652 | 4985940 | 4986022 | 5UTR-5UTR |
| ENST00000381652 | 5073698 | 5073785 | Frame-shift |
| 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 |
| ENST00000381652 | 4985940 | 4986022 | 5UTR-5UTR |
| ENST00000381652 | 5077453 | 5077580 | Frame-shift |
| ENST00000381652 | 5080533 | 5080683 | Frame-shift |
| ENST00000381652 | 5126333 | 5126446 | In-frame |
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Infer the effects of exon skipping event on protein functional features for JAK2 |
p-ENSG00000096968_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 |
| 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 |
| ENST00000381652 | 5302 | 1132 | 5126333 | 5126446 | 3673 | 3785 | 1059 | 1097 |
| 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 |
| 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 |
| O60674 | 1059 | 1097 | 1069 | 1071 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HEZ |
| O60674 | 1059 | 1097 | 1 | 1132 | Chain | ID=PRO_0000088112;Note=Tyrosine-protein kinase JAK2 |
| O60674 | 1059 | 1097 | 849 | 1124 | Domain | Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O60674 | 1059 | 1097 | 1057 | 1065 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UGC |
| O60674 | 1059 | 1097 | 1072 | 1083 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UGC |
| O60674 | 1059 | 1097 | 1096 | 1105 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UGC |
| O60674 | 1059 | 1097 | 1063 | 1063 | Natural variant | ID=VAR_041721;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs41316003,PMID:17344846 |
| O60674 | 1059 | 1097 | 1084 | 1086 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HEZ |
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3'-UTR located exon skipping events that lost miRNA binding sites in JAK2 |
| 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 JAK2 |
| - 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 JAK2 |
| 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 JAK2 |
| 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 JAK2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for JAK2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| O60674 | approved | DB08877 | Ruxolitinib | small molecule | O60674 |
| O60674 | approved|investigational | DB08895 | Tofacitinib | small molecule | O60674 |
| O60674 | approved|investigational | DB11817 | Baricitinib | small molecule | O60674 |
| O60674 | approved|investigational | DB12010 | Fostamatinib | small molecule | O60674 |
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RelatedDiseases for JAK2 |
| 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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