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 |
hsa05166211 | Esophagus | ESCC | Human T-cell leukemia virus 1 infection | 164/4205 | 222/8465 | 8.13e-14 | 2.09e-12 | 1.07e-12 | 164 |
hsa05169210 | Esophagus | ESCC | Epstein-Barr virus infection | 151/4205 | 202/8465 | 1.55e-13 | 3.45e-12 | 1.77e-12 | 151 |
hsa05167211 | Esophagus | ESCC | Kaposi sarcoma-associated herpesvirus infection | 136/4205 | 194/8465 | 4.28e-09 | 4.22e-08 | 2.16e-08 | 136 |
hsa0516425 | Esophagus | ESCC | Influenza A | 122/4205 | 171/8465 | 5.01e-09 | 4.79e-08 | 2.45e-08 | 122 |
hsa0521216 | Esophagus | ESCC | Pancreatic cancer | 62/4205 | 76/8465 | 7.37e-09 | 6.85e-08 | 3.51e-08 | 62 |
hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa05171211 | Esophagus | ESCC | Coronavirus disease - COVID-19 | 156/4205 | 232/8465 | 3.18e-08 | 2.68e-07 | 1.37e-07 | 156 |
hsa0520325 | Esophagus | ESCC | Viral carcinogenesis | 137/4205 | 204/8465 | 2.47e-07 | 1.88e-06 | 9.62e-07 | 137 |
hsa05163210 | Esophagus | ESCC | Human cytomegalovirus infection | 148/4205 | 225/8465 | 5.73e-07 | 4.00e-06 | 2.05e-06 | 148 |
hsa051609 | Esophagus | ESCC | Hepatitis C | 107/4205 | 157/8465 | 1.75e-06 | 1.08e-05 | 5.55e-06 | 107 |
hsa051619 | Esophagus | ESCC | Hepatitis B | 108/4205 | 162/8465 | 7.68e-06 | 4.15e-05 | 2.12e-05 | 108 |
hsa0514525 | Esophagus | ESCC | Toxoplasmosis | 76/4205 | 112/8465 | 6.83e-05 | 2.90e-04 | 1.48e-04 | 76 |
hsa051629 | Esophagus | ESCC | Measles | 90/4205 | 139/8465 | 2.16e-04 | 7.87e-04 | 4.03e-04 | 90 |
hsa0152110 | Esophagus | ESCC | EGFR tyrosine kinase inhibitor resistance | 55/4205 | 79/8465 | 2.44e-04 | 8.78e-04 | 4.50e-04 | 55 |
hsa0462122 | Esophagus | ESCC | NOD-like receptor signaling pathway | 116/4205 | 186/8465 | 2.90e-04 | 1.03e-03 | 5.30e-04 | 116 |
hsa051527 | Esophagus | ESCC | Tuberculosis | 111/4205 | 180/8465 | 7.14e-04 | 2.32e-03 | 1.19e-03 | 111 |
hsa052356 | Esophagus | ESCC | PD-L1 expression and PD-1 checkpoint pathway in cancer | 58/4205 | 89/8465 | 2.19e-03 | 6.16e-03 | 3.16e-03 | 58 |
hsa046599 | Esophagus | ESCC | Th17 cell differentiation | 68/4205 | 108/8465 | 3.53e-03 | 9.30e-03 | 4.76e-03 | 68 |
hsa046585 | Esophagus | ESCC | Th1 and Th2 cell differentiation | 58/4205 | 92/8465 | 6.49e-03 | 1.60e-02 | 8.19e-03 | 58 |
hsa041517 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
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 | rs375956046 | c.1390N>A | p.Val464Met | p.V464M | P23458 | protein_coding | deleterious(0.03) | possibly_damaging(0.862) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JAK1 | SNV | Missense_Mutation | rs766239143 | c.322N>T | p.Arg108Trp | p.R108W | P23458 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JAK1 | SNV | Missense_Mutation | novel | c.2072A>C | p.Lys691Thr | p.K691T | P23458 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
JAK1 | SNV | Missense_Mutation | novel | c.1498A>C | p.Ile500Leu | p.I500L | P23458 | protein_coding | deleterious(0) | probably_damaging(0.952) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
JAK1 | SNV | Missense_Mutation | novel | c.650A>G | p.Tyr217Cys | p.Y217C | P23458 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
JAK1 | deletion | Frame_Shift_Del | | c.2580delA | p.Lys860AsnfsTer16 | p.K860Nfs*16 | P23458 | protein_coding | | | TCGA-A5-A0GH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
JAK1 | deletion | Frame_Shift_Del | | c.2580delN | p.Lys860AsnfsTer16 | p.K860Nfs*16 | P23458 | protein_coding | | | TCGA-A5-A0GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
JAK1 | deletion | Frame_Shift_Del | | c.2580delN | p.Lys860AsnfsTer16 | p.K860Nfs*16 | P23458 | protein_coding | | | TCGA-A5-A0GW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
JAK1 | deletion | Frame_Shift_Del | | c.2580delN | p.Lys860AsnfsTer16 | p.K860Nfs*16 | P23458 | protein_coding | | | TCGA-AJ-A2QO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JAK1 | insertion | Frame_Shift_Ins | novel | c.425dupA | p.Ile143AspfsTer9 | p.I143Dfs*9 | P23458 | protein_coding | | | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
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 | |