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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | P52333 | |
| Context | PubMed: JAK3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for JAK3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for JAK3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for JAK3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_316356 | 19 | 17945891:17946024:17946732:17946860:17947937:17948022 | 17946732:17946860 | ENSG00000105639.14 | ENST00000534444.1,ENST00000458235.1,ENST00000527670.1 |
| exon_skip_316363 | 19 | 17949078:17949199:17949988:17950102:17950285:17950472 | 17949988:17950102 | ENSG00000105639.14 | ENST00000526008.1 |
| exon_skip_316365 | 19 | 17949078:17949199:17950285:17950472:17951038:17951150 | 17950285:17950472 | ENSG00000105639.14 | ENST00000527031.1,ENST00000534444.1,ENST00000458235.1,ENST00000527670.1 |
| exon_skip_316367 | 19 | 17954188:17954300:17954585:17954709:17955042:17955187 | 17954585:17954709 | ENSG00000105639.14 | ENST00000527031.1,ENST00000534444.1,ENST00000458235.1,ENST00000526008.1,ENST00000527670.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for JAK3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_316356 | 19 | 17945891:17946024:17946732:17946860:17947937:17948022 | 17946732:17946860 | ENSG00000105639.14 | ENST00000458235.1,ENST00000527670.1,ENST00000534444.1 |
| exon_skip_316363 | 19 | 17949078:17949199:17949988:17950102:17950285:17950472 | 17949988:17950102 | ENSG00000105639.14 | ENST00000526008.1 |
| exon_skip_316365 | 19 | 17949078:17949199:17950285:17950472:17951038:17951150 | 17950285:17950472 | ENSG00000105639.14 | ENST00000527031.1,ENST00000458235.1,ENST00000527670.1,ENST00000534444.1 |
| exon_skip_316367 | 19 | 17954188:17954300:17954585:17954709:17955042:17955187 | 17954585:17954709 | ENSG00000105639.14 | ENST00000527031.1,ENST00000458235.1,ENST00000527670.1,ENST00000534444.1,ENST00000526008.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000458235 | 17946732 | 17946860 | Frame-shift |
| ENST00000527670 | 17946732 | 17946860 | Frame-shift |
| ENST00000458235 | 17950285 | 17950472 | Frame-shift |
| ENST00000527670 | 17950285 | 17950472 | Frame-shift |
| ENST00000458235 | 17954585 | 17954709 | Frame-shift |
| ENST00000527670 | 17954585 | 17954709 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000458235 | 17946732 | 17946860 | Frame-shift |
| ENST00000527670 | 17946732 | 17946860 | Frame-shift |
| ENST00000458235 | 17950285 | 17950472 | Frame-shift |
| ENST00000527670 | 17950285 | 17950472 | Frame-shift |
| ENST00000458235 | 17954585 | 17954709 | Frame-shift |
| ENST00000527670 | 17954585 | 17954709 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for JAK3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for JAK3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-CK-5913-01 | exon_skip_316367 | 17954586 | 17954709 | 17954643 | 17954643 | Frame_Shift_Del | G | - | p.P84fs |
| HNSC | TCGA-BA-5556-01 | exon_skip_316367 | 17954586 | 17954709 | 17954641 | 17954642 | Frame_Shift_Ins | - | C | p.P85fs |
| HNSC | TCGA-BA-5557-01 | exon_skip_316367 | 17954586 | 17954709 | 17954641 | 17954642 | Frame_Shift_Ins | - | C | p.P85fs |
| LIHC | TCGA-BC-A10T-01 | exon_skip_316367 | 17954586 | 17954709 | 17954641 | 17954642 | Frame_Shift_Ins | - | C | p.P85fs |
| UCEC | TCGA-AX-A0IS-01 | exon_skip_316367 | 17954586 | 17954709 | 17954641 | 17954642 | Frame_Shift_Ins | - | CC | p.P84fs |
| OV | TCGA-13-1404-01 | exon_skip_316356 | 17946733 | 17946860 | 17946849 | 17946849 | Nonsense_Mutation | G | A | p.Q600* |
| HNSC | TCGA-CV-7568-01 | exon_skip_316365 | 17950286 | 17950472 | 17950353 | 17950353 | Nonsense_Mutation | C | T | p.W458* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| LS411N_LARGE_INTESTINE | 17946733 | 17946860 | 17946834 | 17946834 | Missense_Mutation | G | T | p.L605M |
| SISO_CERVIX | 17946733 | 17946860 | 17946854 | 17946854 | Missense_Mutation | A | G | p.M598T |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17946733 | 17946860 | 17946854 | 17946854 | Missense_Mutation | A | G | p.M598T |
| NCIH1573_LUNG | 17950286 | 17950472 | 17950316 | 17950316 | Missense_Mutation | G | A | p.L471F |
| KYSE140_OESOPHAGUS | 17950286 | 17950472 | 17950322 | 17950322 | Missense_Mutation | C | G | p.V469L |
| SW684_SOFT_TISSUE | 17950286 | 17950472 | 17950459 | 17950459 | Missense_Mutation | G | A | p.P423L |
| HCC1569_BREAST | 17954586 | 17954709 | 17954683 | 17954683 | Missense_Mutation | A | G | p.F71L |
| MCC13_SKIN | 17950286 | 17950472 | 17950353 | 17950353 | Nonsense_Mutation | C | T | p.W458* |
| MM426_SKIN | 17946733 | 17946860 | 17946733 | 17946733 | Splice_Site | C | T | p.L638L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for JAK3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for JAK3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for JAK3 |
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RelatedDrugs for JAK3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P52333 | DB08895 | Tofacitinib | Tyrosine-protein kinase JAK3 | small molecule | approved|investigational | |
| P52333 | DB11817 | Baricitinib | Tyrosine-protein kinase JAK3 | small molecule | approved|investigational | |
| P52333 | DB12010 | Fostamatinib | Tyrosine-protein kinase JAK3 | small molecule | approved|investigational |
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RelatedDiseases for JAK3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| JAK3 | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human |
| JAK3 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
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