Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/JAK2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/JAK2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/JAK2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/JAK2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/JAK2_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:009719310 | Cervix | CC | intrinsic apoptotic signaling pathway | 85/2311 | 288/18723 | 4.56e-15 | 6.46e-12 | 85 |
GO:004206010 | Cervix | CC | wound healing | 109/2311 | 422/18723 | 1.84e-14 | 1.57e-11 | 109 |
GO:001081010 | Cervix | CC | regulation of cell-substrate adhesion | 69/2311 | 221/18723 | 8.57e-14 | 5.69e-11 | 69 |
GO:00315898 | Cervix | CC | cell-substrate adhesion | 96/2311 | 363/18723 | 1.48e-13 | 8.85e-11 | 96 |
GO:000701510 | Cervix | CC | actin filament organization | 109/2311 | 442/18723 | 4.92e-13 | 2.45e-10 | 109 |
GO:005254710 | Cervix | CC | regulation of peptidase activity | 112/2311 | 461/18723 | 6.70e-13 | 3.08e-10 | 112 |
GO:004586210 | Cervix | CC | positive regulation of proteolysis | 95/2311 | 372/18723 | 1.84e-12 | 6.86e-10 | 95 |
GO:005254810 | Cervix | CC | regulation of endopeptidase activity | 103/2311 | 432/18723 | 1.89e-11 | 5.14e-09 | 103 |
GO:00725949 | Cervix | CC | establishment of protein localization to organelle | 99/2311 | 422/18723 | 1.23e-10 | 2.11e-08 | 99 |
GO:002240710 | Cervix | CC | regulation of cell-cell adhesion | 103/2311 | 448/18723 | 1.78e-10 | 2.87e-08 | 103 |
GO:004578510 | Cervix | CC | positive regulation of cell adhesion | 101/2311 | 437/18723 | 1.96e-10 | 3.08e-08 | 101 |
GO:000697910 | Cervix | CC | response to oxidative stress | 102/2311 | 446/18723 | 2.99e-10 | 4.36e-08 | 102 |
GO:190382910 | Cervix | CC | positive regulation of cellular protein localization | 72/2311 | 276/18723 | 3.20e-10 | 4.46e-08 | 72 |
GO:00321035 | Cervix | CC | positive regulation of response to external stimulus | 95/2311 | 427/18723 | 5.44e-09 | 5.03e-07 | 95 |
GO:001095210 | Cervix | CC | positive regulation of peptidase activity | 54/2311 | 197/18723 | 8.06e-09 | 6.99e-07 | 54 |
GO:003367410 | Cervix | CC | positive regulation of kinase activity | 101/2311 | 467/18723 | 8.66e-09 | 7.22e-07 | 101 |
GO:200011610 | Cervix | CC | regulation of cysteine-type endopeptidase activity | 61/2311 | 235/18723 | 8.69e-09 | 7.22e-07 | 61 |
GO:00071626 | Cervix | CC | negative regulation of cell adhesion | 72/2311 | 303/18723 | 2.36e-08 | 1.70e-06 | 72 |
GO:005122210 | Cervix | CC | positive regulation of protein transport | 72/2311 | 303/18723 | 2.36e-08 | 1.70e-06 | 72 |
GO:004328110 | Cervix | CC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 55/2311 | 209/18723 | 2.77e-08 | 1.95e-06 | 55 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0493313 | Cervix | CC | AGE-RAGE signaling pathway in diabetic complications | 25/1267 | 100/8465 | 5.64e-03 | 1.88e-02 | 1.11e-02 | 25 |
hsa0491711 | Cervix | CC | Prolactin signaling pathway | 18/1267 | 70/8465 | 1.29e-02 | 3.87e-02 | 2.29e-02 | 18 |
hsa05417 | Colorectum | AD | Lipid and atherosclerosis | 73/2092 | 215/8465 | 1.31e-03 | 8.27e-03 | 5.27e-03 | 73 |
hsa01521 | Colorectum | AD | EGFR tyrosine kinase inhibitor resistance | 29/2092 | 79/8465 | 1.15e-02 | 4.24e-02 | 2.71e-02 | 29 |
hsa054171 | Colorectum | AD | Lipid and atherosclerosis | 73/2092 | 215/8465 | 1.31e-03 | 8.27e-03 | 5.27e-03 | 73 |
hsa015211 | Colorectum | AD | EGFR tyrosine kinase inhibitor resistance | 29/2092 | 79/8465 | 1.15e-02 | 4.24e-02 | 2.71e-02 | 29 |
hsa04217 | Colorectum | SER | Necroptosis | 47/1580 | 159/8465 | 5.21e-04 | 4.44e-03 | 3.22e-03 | 47 |
hsa054172 | Colorectum | SER | Lipid and atherosclerosis | 55/1580 | 215/8465 | 6.83e-03 | 3.77e-02 | 2.74e-02 | 55 |
hsa042171 | Colorectum | SER | Necroptosis | 47/1580 | 159/8465 | 5.21e-04 | 4.44e-03 | 3.22e-03 | 47 |
hsa054173 | Colorectum | SER | Lipid and atherosclerosis | 55/1580 | 215/8465 | 6.83e-03 | 3.77e-02 | 2.74e-02 | 55 |
hsa054174 | Colorectum | MSS | Lipid and atherosclerosis | 70/1875 | 215/8465 | 2.38e-04 | 1.81e-03 | 1.11e-03 | 70 |
hsa04935 | Colorectum | MSS | Growth hormone synthesis, secretion and action | 42/1875 | 120/8465 | 8.17e-04 | 5.16e-03 | 3.16e-03 | 42 |
hsa05167 | Colorectum | MSS | Kaposi sarcoma-associated herpesvirus infection | 60/1875 | 194/8465 | 2.59e-03 | 1.27e-02 | 7.81e-03 | 60 |
hsa04725 | Colorectum | MSS | Cholinergic synapse | 36/1875 | 113/8465 | 1.05e-02 | 3.69e-02 | 2.26e-02 | 36 |
hsa05161 | Colorectum | MSS | Hepatitis B | 48/1875 | 162/8465 | 1.53e-02 | 4.93e-02 | 3.02e-02 | 48 |
hsa054175 | Colorectum | MSS | Lipid and atherosclerosis | 70/1875 | 215/8465 | 2.38e-04 | 1.81e-03 | 1.11e-03 | 70 |
hsa049351 | Colorectum | MSS | Growth hormone synthesis, secretion and action | 42/1875 | 120/8465 | 8.17e-04 | 5.16e-03 | 3.16e-03 | 42 |
hsa051671 | Colorectum | MSS | Kaposi sarcoma-associated herpesvirus infection | 60/1875 | 194/8465 | 2.59e-03 | 1.27e-02 | 7.81e-03 | 60 |
hsa047251 | Colorectum | MSS | Cholinergic synapse | 36/1875 | 113/8465 | 1.05e-02 | 3.69e-02 | 2.26e-02 | 36 |
hsa051611 | Colorectum | MSS | Hepatitis B | 48/1875 | 162/8465 | 1.53e-02 | 4.93e-02 | 3.02e-02 | 48 |
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 |
JAK2 | SNV | Missense_Mutation | | c.398N>C | p.Arg133Pro | p.R133P | O60674 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
JAK2 | SNV | Missense_Mutation | | c.164T>C | p.Leu55Pro | p.L55P | O60674 | protein_coding | deleterious(0) | probably_damaging(0.936) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
JAK2 | SNV | Missense_Mutation | | c.344G>T | p.Arg115Ile | p.R115I | O60674 | protein_coding | deleterious(0) | possibly_damaging(0.883) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
JAK2 | SNV | Missense_Mutation | rs777208458 | c.413G>C | p.Arg138Pro | p.R138P | O60674 | protein_coding | deleterious(0) | possibly_damaging(0.615) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JAK2 | SNV | Missense_Mutation | | c.224N>T | p.Cys75Phe | p.C75F | O60674 | protein_coding | deleterious(0) | possibly_damaging(0.691) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
JAK2 | insertion | Frame_Shift_Ins | novel | c.2221_2222insC | p.Thr742HisfsTer11 | p.T742Hfs*11 | O60674 | protein_coding | | | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JAK2 | deletion | Frame_Shift_Del | novel | c.352delN | p.Tyr119ThrfsTer48 | p.Y119Tfs*48 | O60674 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
JAK2 | SNV | Missense_Mutation | novel | c.3296N>G | p.Tyr1099Cys | p.Y1099C | O60674 | protein_coding | deleterious(0.03) | possibly_damaging(0.893) | TCGA-4J-AA1J-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
JAK2 | SNV | Missense_Mutation | | c.2173G>A | p.Glu725Lys | p.E725K | O60674 | protein_coding | tolerated(0.44) | benign(0.006) | TCGA-C5-A1MN-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
JAK2 | SNV | Missense_Mutation | | c.2653C>A | p.Gln885Lys | p.Q885K | O60674 | protein_coding | tolerated(0.35) | possibly_damaging(0.614) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | inhibitor | RUXOLITINIB | RUXOLITINIB | |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | | Pembrolizumab | PEMBROLIZUMAB | 27433843 |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | | A-1155463 | | 25787766 |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | | BMS-911543 | BMS-911543 | |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | | TGX-221 | | 24251790 |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | | Tricyclic compound 11 | | |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | inhibitor | CHEMBL1944698 | ZOTIRACICLIB | |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | | SB-1578 | CT-1578 | |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | inhibitor | 381118857 | | |
3717 | JAK2 | CLINICALLY ACTIONABLE, KINASE, TYROSINE KINASE, DRUGGABLE GENOME, DRUG RESISTANCE, ENZYME | | WHI-P154 | CHEMBL473773 | |