Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Thyroid | | 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:0048008 | Colorectum | FAP | platelet-derived growth factor receptor signaling pathway | 16/2622 | 56/18723 | 3.40e-03 | 2.47e-02 | 16 |
GO:0046677 | Colorectum | FAP | response to antibiotic | 14/2622 | 47/18723 | 3.95e-03 | 2.75e-02 | 14 |
GO:00454282 | Colorectum | FAP | regulation of nitric oxide biosynthetic process | 17/2622 | 62/18723 | 4.12e-03 | 2.84e-02 | 17 |
GO:01061061 | Colorectum | FAP | cold-induced thermogenesis | 32/2622 | 144/18723 | 4.85e-03 | 3.25e-02 | 32 |
GO:01201611 | Colorectum | FAP | regulation of cold-induced thermogenesis | 32/2622 | 144/18723 | 4.85e-03 | 3.25e-02 | 32 |
GO:0046883 | Colorectum | FAP | regulation of hormone secretion | 50/2622 | 249/18723 | 4.97e-03 | 3.32e-02 | 50 |
GO:00109524 | Colorectum | FAP | positive regulation of peptidase activity | 41/2622 | 197/18723 | 5.49e-03 | 3.56e-02 | 41 |
GO:00486601 | Colorectum | FAP | regulation of smooth muscle cell proliferation | 38/2622 | 180/18723 | 5.73e-03 | 3.67e-02 | 38 |
GO:19908451 | Colorectum | FAP | adaptive thermogenesis | 34/2622 | 157/18723 | 5.77e-03 | 3.69e-02 | 34 |
GO:00353061 | Colorectum | FAP | positive regulation of dephosphorylation | 16/2622 | 59/18723 | 5.95e-03 | 3.75e-02 | 16 |
GO:0046879 | Colorectum | FAP | hormone secretion | 57/2622 | 295/18723 | 6.67e-03 | 4.12e-02 | 57 |
GO:01201621 | Colorectum | FAP | positive regulation of cold-induced thermogenesis | 23/2622 | 97/18723 | 6.95e-03 | 4.26e-02 | 23 |
GO:00423064 | Colorectum | FAP | regulation of protein import into nucleus | 16/2622 | 60/18723 | 7.08e-03 | 4.33e-02 | 16 |
GO:00525484 | Colorectum | FAP | regulation of endopeptidase activity | 79/2622 | 432/18723 | 7.15e-03 | 4.36e-02 | 79 |
GO:00435233 | Colorectum | FAP | regulation of neuron apoptotic process | 43/2622 | 212/18723 | 7.28e-03 | 4.38e-02 | 43 |
GO:00510901 | Colorectum | FAP | regulation of DNA-binding transcription factor activity | 80/2622 | 440/18723 | 7.90e-03 | 4.67e-02 | 80 |
GO:0060391 | Colorectum | FAP | positive regulation of SMAD protein signal transduction | 7/2622 | 18/18723 | 8.10e-03 | 4.77e-02 | 7 |
GO:00486591 | Colorectum | FAP | smooth muscle cell proliferation | 38/2622 | 184/18723 | 8.29e-03 | 4.85e-02 | 38 |
GO:00423073 | Colorectum | FAP | positive regulation of protein import into nucleus | 12/2622 | 41/18723 | 8.57e-03 | 4.96e-02 | 12 |
GO:00070155 | Colorectum | CRC | actin filament organization | 104/2078 | 442/18723 | 4.75e-14 | 7.12e-11 | 104 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0541720 | Cervix | CC | Lipid and atherosclerosis | 65/1267 | 215/8465 | 6.47e-09 | 1.10e-07 | 6.52e-08 | 65 |
hsa0516720 | Cervix | CC | Kaposi sarcoma-associated herpesvirus infection | 60/1267 | 194/8465 | 9.74e-09 | 1.58e-07 | 9.33e-08 | 60 |
hsa0514514 | Cervix | CC | Toxoplasmosis | 34/1267 | 112/8465 | 2.42e-05 | 1.82e-04 | 1.08e-04 | 34 |
hsa0516414 | Cervix | CC | Influenza A | 43/1267 | 171/8465 | 3.03e-04 | 1.64e-03 | 9.68e-04 | 43 |
hsa05152 | Cervix | CC | Tuberculosis | 42/1267 | 180/8465 | 1.78e-03 | 7.21e-03 | 4.26e-03 | 42 |
hsa046596 | Cervix | CC | Th17 cell differentiation | 28/1267 | 108/8465 | 1.99e-03 | 7.98e-03 | 4.72e-03 | 28 |
hsa04062 | Cervix | CC | Chemokine signaling pathway | 43/1267 | 192/8465 | 3.60e-03 | 1.34e-02 | 7.91e-03 | 43 |
hsa0514014 | Cervix | CC | Leishmaniasis | 21/1267 | 77/8465 | 3.65e-03 | 1.34e-02 | 7.91e-03 | 21 |
hsa04658 | Cervix | CC | Th1 and Th2 cell differentiation | 24/1267 | 92/8465 | 3.71e-03 | 1.34e-02 | 7.91e-03 | 24 |
hsa049336 | Cervix | CC | AGE-RAGE signaling pathway in diabetic complications | 25/1267 | 100/8465 | 5.64e-03 | 1.88e-02 | 1.11e-02 | 25 |
hsa049172 | Cervix | CC | Prolactin signaling pathway | 18/1267 | 70/8465 | 1.29e-02 | 3.87e-02 | 2.29e-02 | 18 |
hsa05417110 | Cervix | CC | Lipid and atherosclerosis | 65/1267 | 215/8465 | 6.47e-09 | 1.10e-07 | 6.52e-08 | 65 |
hsa05167110 | Cervix | CC | Kaposi sarcoma-associated herpesvirus infection | 60/1267 | 194/8465 | 9.74e-09 | 1.58e-07 | 9.33e-08 | 60 |
hsa0514515 | Cervix | CC | Toxoplasmosis | 34/1267 | 112/8465 | 2.42e-05 | 1.82e-04 | 1.08e-04 | 34 |
hsa0516415 | Cervix | CC | Influenza A | 43/1267 | 171/8465 | 3.03e-04 | 1.64e-03 | 9.68e-04 | 43 |
hsa051521 | Cervix | CC | Tuberculosis | 42/1267 | 180/8465 | 1.78e-03 | 7.21e-03 | 4.26e-03 | 42 |
hsa0465911 | Cervix | CC | Th17 cell differentiation | 28/1267 | 108/8465 | 1.99e-03 | 7.98e-03 | 4.72e-03 | 28 |
hsa040621 | Cervix | CC | Chemokine signaling pathway | 43/1267 | 192/8465 | 3.60e-03 | 1.34e-02 | 7.91e-03 | 43 |
hsa0514015 | Cervix | CC | Leishmaniasis | 21/1267 | 77/8465 | 3.65e-03 | 1.34e-02 | 7.91e-03 | 21 |
hsa046581 | Cervix | CC | Th1 and Th2 cell differentiation | 24/1267 | 92/8465 | 3.71e-03 | 1.34e-02 | 7.91e-03 | 24 |
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 | |