Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/JAK1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/JAK1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/JAK1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/JAK1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Prostate/JAK1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/JAK1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/JAK1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003434013 | Esophagus | ESCC | response to type I interferon | 48/8552 | 58/18723 | 6.18e-09 | 1.26e-07 | 48 |
GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
GO:00603375 | Esophagus | ESCC | type I interferon signaling pathway | 41/8552 | 50/18723 | 1.35e-07 | 2.17e-06 | 41 |
GO:00713575 | Esophagus | ESCC | cellular response to type I interferon | 42/8552 | 52/18723 | 2.15e-07 | 3.30e-06 | 42 |
GO:00603336 | Esophagus | ESCC | interferon-gamma-mediated signaling pathway | 22/8552 | 27/18723 | 1.49e-04 | 9.92e-04 | 22 |
GO:00343418 | Esophagus | ESCC | response to interferon-gamma | 86/8552 | 141/18723 | 1.74e-04 | 1.14e-03 | 86 |
GO:00466774 | Esophagus | ESCC | response to antibiotic | 34/8552 | 47/18723 | 1.91e-04 | 1.21e-03 | 34 |
GO:002240720 | Esophagus | ESCC | regulation of cell-cell adhesion | 239/8552 | 448/18723 | 5.88e-04 | 3.19e-03 | 239 |
GO:00182124 | Esophagus | ESCC | peptidyl-tyrosine modification | 202/8552 | 378/18723 | 1.34e-03 | 6.39e-03 | 202 |
GO:002240919 | Esophagus | ESCC | positive regulation of cell-cell adhesion | 155/8552 | 284/18723 | 1.50e-03 | 7.06e-03 | 155 |
GO:00181084 | Esophagus | ESCC | peptidyl-tyrosine phosphorylation | 200/8552 | 375/18723 | 1.60e-03 | 7.45e-03 | 200 |
GO:00713466 | Esophagus | ESCC | cellular response to interferon-gamma | 69/8552 | 118/18723 | 3.44e-03 | 1.41e-02 | 69 |
GO:003410920 | Esophagus | ESCC | homotypic cell-cell adhesion | 54/8552 | 90/18723 | 4.33e-03 | 1.72e-02 | 54 |
GO:015010510 | Esophagus | ESCC | protein localization to cell-cell junction | 16/8552 | 21/18723 | 4.47e-03 | 1.76e-02 | 16 |
GO:00343413 | Liver | Cirrhotic | response to interferon-gamma | 60/4634 | 141/18723 | 2.57e-06 | 4.63e-05 | 60 |
GO:00343404 | Liver | Cirrhotic | response to type I interferon | 29/4634 | 58/18723 | 2.87e-05 | 3.64e-04 | 29 |
GO:0071346 | Liver | Cirrhotic | cellular response to interferon-gamma | 49/4634 | 118/18723 | 4.43e-05 | 5.22e-04 | 49 |
GO:00341097 | Liver | Cirrhotic | homotypic cell-cell adhesion | 39/4634 | 90/18723 | 8.57e-05 | 9.25e-04 | 39 |
GO:00603332 | Liver | Cirrhotic | interferon-gamma-mediated signaling pathway | 16/4634 | 27/18723 | 1.41e-04 | 1.36e-03 | 16 |
GO:00457857 | Liver | Cirrhotic | positive regulation of cell adhesion | 141/4634 | 437/18723 | 2.05e-04 | 1.89e-03 | 141 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516541 | Oral cavity | EOLP | Human papillomavirus infection | 79/1218 | 331/8465 | 1.96e-06 | 1.63e-05 | 9.60e-06 | 79 |
hsa0465821 | Oral cavity | EOLP | Th1 and Th2 cell differentiation | 31/1218 | 92/8465 | 2.27e-06 | 1.79e-05 | 1.05e-05 | 31 |
hsa0521241 | Oral cavity | EOLP | Pancreatic cancer | 27/1218 | 76/8465 | 3.23e-06 | 2.32e-05 | 1.37e-05 | 27 |
hsa0515241 | Oral cavity | EOLP | Tuberculosis | 47/1218 | 180/8465 | 2.19e-05 | 1.18e-04 | 6.96e-05 | 47 |
hsa046214 | Oral cavity | EOLP | NOD-like receptor signaling pathway | 48/1218 | 186/8465 | 2.51e-05 | 1.31e-04 | 7.70e-05 | 48 |
hsa0152124 | Oral cavity | EOLP | EGFR tyrosine kinase inhibitor resistance | 25/1218 | 79/8465 | 7.03e-05 | 3.25e-04 | 1.91e-04 | 25 |
hsa0415123 | Oral cavity | EOLP | PI3K-Akt signaling pathway | 73/1218 | 354/8465 | 7.03e-04 | 2.69e-03 | 1.59e-03 | 73 |
hsa0421722 | Oral cavity | EOLP | Necroptosis | 37/1218 | 159/8465 | 1.70e-03 | 5.83e-03 | 3.44e-03 | 37 |
hsa0514018 | Oral cavity | EOLP | Leishmaniasis | 21/1218 | 77/8465 | 2.25e-03 | 7.41e-03 | 4.37e-03 | 21 |
hsa04630 | Oral cavity | EOLP | JAK-STAT signaling pathway | 35/1218 | 166/8465 | 1.15e-02 | 3.07e-02 | 1.81e-02 | 35 |
hsa0517156 | Oral cavity | EOLP | Coronavirus disease - COVID-19 | 108/1218 | 232/8465 | 8.08e-33 | 2.61e-30 | 1.54e-30 | 108 |
hsa0516754 | Oral cavity | EOLP | Kaposi sarcoma-associated herpesvirus infection | 68/1218 | 194/8465 | 2.59e-13 | 2.09e-11 | 1.24e-11 | 68 |
hsa0516953 | Oral cavity | EOLP | Epstein-Barr virus infection | 66/1218 | 202/8465 | 2.23e-11 | 1.20e-09 | 7.08e-10 | 66 |
hsa0516452 | Oral cavity | EOLP | Influenza A | 58/1218 | 171/8465 | 7.01e-11 | 3.23e-09 | 1.91e-09 | 58 |
hsa0516355 | Oral cavity | EOLP | Human cytomegalovirus infection | 68/1218 | 225/8465 | 5.29e-10 | 1.90e-08 | 1.12e-08 | 68 |
hsa0465933 | Oral cavity | EOLP | Th17 cell differentiation | 41/1218 | 108/8465 | 9.84e-10 | 3.18e-08 | 1.87e-08 | 41 |
hsa0516051 | Oral cavity | EOLP | Hepatitis C | 52/1218 | 157/8465 | 1.79e-09 | 4.81e-08 | 2.84e-08 | 52 |
hsa0514552 | Oral cavity | EOLP | Toxoplasmosis | 41/1218 | 112/8465 | 3.50e-09 | 6.74e-08 | 3.98e-08 | 41 |
hsa043803 | Oral cavity | EOLP | Osteoclast differentiation | 44/1218 | 128/8465 | 8.92e-09 | 1.37e-07 | 8.10e-08 | 44 |
hsa0516654 | Oral cavity | EOLP | Human T-cell leukemia virus 1 infection | 64/1218 | 222/8465 | 1.37e-08 | 1.83e-07 | 1.08e-07 | 64 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
JAK1 | SNV | Missense_Mutation | novel | c.3299N>A | p.Thr1100Lys | p.T1100K | P23458 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A7-A13E-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | bevacizumab | PD |
JAK1 | SNV | Missense_Mutation | | c.3268N>C | p.Lys1090Gln | p.K1090Q | P23458 | protein_coding | deleterious(0.03) | benign(0.115) | TCGA-A8-A08T-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
JAK1 | SNV | Missense_Mutation | | c.1798G>T | p.Gly600Trp | p.G600W | P23458 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
JAK1 | SNV | Missense_Mutation | | c.3392N>A | p.Cys1131Tyr | p.C1131Y | P23458 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JAK1 | SNV | Missense_Mutation | | c.1406N>A | p.Cys469Tyr | p.C469Y | P23458 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
JAK1 | SNV | Missense_Mutation | | c.566N>A | p.Cys189Tyr | p.C189Y | P23458 | protein_coding | tolerated(0.09) | probably_damaging(0.996) | TCGA-E9-A1R7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | fareston | SD |
JAK1 | insertion | In_Frame_Ins | novel | c.1997_1998insTCCTTCATT | p.Val666_Glu667insProSerLeu | p.V666_E667insPSL | P23458 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JAK1 | insertion | Nonsense_Mutation | novel | c.1995_1996insTTTGGGCACACTGCTTGAAGTA | p.Val666PhefsTer6 | p.V666Ffs*6 | P23458 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JAK1 | insertion | Nonsense_Mutation | novel | c.2052_2053insAGTATTATTTATCTGAGATTTTAA | p.Asp684_Val685insSerIleIleTyrLeuArgPheTer | p.D684_V685insSIIYLRF* | P23458 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
JAK1 | insertion | Frame_Shift_Ins | novel | c.1035_1036insA | p.Leu346ThrfsTer4 | p.L346Tfs*4 | P23458 | protein_coding | | | TCGA-D8-A145-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | | PEMBROLIZUMAB | PEMBROLIZUMAB | 27903500,27433843 |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | | PMID27774824-Compound-Figure9Example2up | | |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | | Aminotriazolopyridine derivative 1 | | |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | | Pyrazolo[4,3-c]pyridine derivative 2 | | |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | inhibitor | 381118867 | | |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | | Tricyclic heterocycle derivative 1 | | |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | inhibitor | 348353655 | OCLACITINIB | |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | | Five-and-six-membered heterocyclic compound 1 | | |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | | Bipyrazole derivative 1 | | |
3716 | JAK1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE, DRUGGABLE GENOME, KINASE, TYROSINE KINASE, ENZYME | inhibitor | 385612219 | BREPOCITINIB | |