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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for JAK1 |
Gene summary |
Gene information | Gene symbol | JAK1 | Gene ID | 3716 |
Gene name | Janus kinase 1 | |
Synonyms | JAK1A|JAK1B|JTK3 | |
Cytomap | 1p31.3 | |
Type of gene | protein-coding | |
Description | tyrosine-protein kinase JAK1 | |
Modification date | 20200327 | |
UniProtAcc | A0A0A0N0M2, A0A5F9ZH07, A0A5F9ZH32, A0A5F9ZH73, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
JAK1 | GO:0038110 | interleukin-2-mediated signaling pathway | 11909529 |
JAK1 | GO:0046677 | response to antibiotic | 16280321 |
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Gene structures and expression levels for JAK1 |
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. |
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 |
STG | UP | ENST00000673046.1 | JAK1-216:protein_coding:JAK1 | 2.833043e+01 | 2.411459e+01 | 1.578951e-32 | 5.884105e-29 |
CB | UP | ENST00000673314.1 | JAK1-220:retained_intron:JAK1 | 8.464892e+02 | 8.156607e-01 | 4.562542e-07 | 7.697566e-06 |
CB | UP | ENST00000471473.1 | JAK1-203:retained_intron:JAK1 | 2.953258e+00 | 1.014826e+00 | 5.071784e-06 | 5.930906e-05 |
CB | UP | ENST00000673254.1 | JAK1-219:protein_coding:JAK1 | 1.183820e+02 | 9.444162e-01 | 5.085543e-05 | 4.172298e-04 |
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 JAK1 |
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_126772 | chr1 | 64886259:64886341:64956934:64957017:64966333:64966448 | 64956934:64957017 |
exon_skip_154001 | chr1 | 64855509:64855698:64857656:64857779:64860105:64860262 | 64857656:64857779 |
exon_skip_164770 | chr1 | 64835396:64835506:64836098:64836215:64837932:64838104 | 64836098:64836215 |
exon_skip_192554 | chr1 | 64886259:64886341:64956934:64957017:64966333:64966359 | 64956934:64957017 |
exon_skip_193948 | chr1 | 64869311:64869474:64873370:64876473:64879025:64879148 | 64873370:64876473 |
exon_skip_223521 | chr1 | 64841245:64841339:64841556:64841601:64844064:64844215 | 64841556:64841601 |
exon_skip_233854 | chr1 | 64864928:64864972:64866866:64867076:64869311:64869474 | 64866866:64867076 |
exon_skip_254619 | chr1 | 64841245:64841339:64841451:64841601:64844064:64844215 | 64841451:64841601 |
exon_skip_277899 | chr1 | 64886259:64886341:64956934:64957017:64966333:64966361 | 64956934:64957017 |
exon_skip_292232 | chr1 | 64869311:64869474:64873370:64873523:64879025:64879148 | 64873370:64873523 |
exon_skip_57023 | chr1 | 64864928:64864972:64866866:64867079:64869311:64869474 | 64866866:64867079 |
exon_skip_57290 | chr1 | 64879025:64879148:64882892:64883063:64883277:64883475 | 64882892:64883063 |
exon_skip_79882 | chr1 | 64864928:64864972:64866866:64867208:64869311:64869474 | 64866866:64867208 |
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 JAK1 |
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 |
ENST00000342505 | 64841451 | 64841601 | 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 |
ENST00000342505 | 64841451 | 64841601 | Frame-shift |
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 |
ENST00000342505 | 64836098 | 64836215 | Frame-shift |
ENST00000342505 | 64841451 | 64841601 | Frame-shift |
ENST00000342505 | 64857656 | 64857779 | Frame-shift |
ENST00000342505 | 64866866 | 64867208 | Frame-shift |
ENST00000342505 | 64873370 | 64873523 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for JAK1 |
p-ENSG00000162434_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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in JAK1 |
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 JAK1 |
- 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 JAK1 |
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 JAK1 |
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 JAK1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM6 | exon_skip_254619 | -5.005021e-01 | 3.321915e-11 |
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RelatedDrugs for JAK1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
P23458 | approved | DB08877 | Ruxolitinib | small molecule | P23458 |
P23458 | approved|investigational | DB08895 | Tofacitinib | small molecule | P23458 |
P23458 | approved|investigational | DB11817 | Baricitinib | small molecule | P23458 |
P23458 | approved|investigational | DB12010 | Fostamatinib | small molecule | P23458 |
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RelatedDiseases for JAK1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |