Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 694 | 103 | 562 |
| Samples | 638 | 91 | 521 |
| Peptides | 471 | 65 | 410 |
Function
JAK1 · Janus kinase 1
This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020].
Isoforms & Proteins
1 transcript · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000342505 | P23458 | 694 | 471 |
Gene Properties
Recurrent Mutations
All 471 amino-acid changes on canonical ENST00000342505 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in JAK1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in JAK1 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Cell Non-Hodgkins Lymphoma | 4/26 15% | 0/0 0% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 30/612 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Melanoma | 6/210 3% | 50/1899 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Colorectal Carcinoma | 20/143 14% | 59/3239 2% |
| Biliary Tract Carcinoma | 0/54 0% | 23/950 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Gastric Carcinoma | 3/74 4% | 36/1809 2% |
| Hepatocellular Carcinoma | 0/46 0% | 39/2210 2% |
| Bladder Carcinoma | 2/58 3% | 15/956 2% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 22/1390 2% |
| Ovarian Carcinoma | 6/109 6% | 11/998 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 11/810 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Cervical Carcinoma | 2/35 6% | 4/422 1% |
| Other Solid Cancers | 4/94 4% | 17/1515 1% |
| B-Lymphoblastic Leukemia | 1/55 2% | 32/2640 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 20/1592 1% |
| Other Sarcomas | 0/69 0% | 9/699 1% |
| Head and Neck Carcinoma | 1/85 1% | 18/1574 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Glioma | 2/52 4% | 20/2127 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Prostate Carcinoma | 1/13 8% | 19/2105 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Neuroendocrine Tumour | 3/154 2% | 3/577 1% |
Mutation Distribution
Where JAK1 is mutated · all tissues, split by cell line vs tissue
How many mutations in JAK1 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 694 mutations in JAK1
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|