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 |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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:00069139 | Cervix | CC | nucleocytoplasmic transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00511699 | Cervix | CC | nuclear transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00018908 | Cervix | CC | placenta development | 40/2311 | 144/18723 | 4.59e-07 | 1.77e-05 | 40 |
GO:00018197 | Cervix | CC | positive regulation of cytokine production | 95/2311 | 467/18723 | 4.88e-07 | 1.85e-05 | 95 |
GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
GO:00468229 | Cervix | CC | regulation of nucleocytoplasmic transport | 31/2311 | 106/18723 | 2.68e-06 | 7.87e-05 | 31 |
GO:00323868 | Cervix | CC | regulation of intracellular transport | 71/2311 | 337/18723 | 3.70e-06 | 9.74e-05 | 71 |
GO:00511689 | Cervix | CC | nuclear export | 38/2311 | 154/18723 | 1.86e-05 | 3.46e-04 | 38 |
GO:00096158 | Cervix | CC | response to virus | 73/2311 | 367/18723 | 2.22e-05 | 3.95e-04 | 73 |
GO:00488634 | Cervix | CC | stem cell differentiation | 46/2311 | 206/18723 | 4.11e-05 | 6.36e-04 | 46 |
GO:00512368 | Cervix | CC | establishment of RNA localization | 39/2311 | 166/18723 | 4.76e-05 | 7.25e-04 | 39 |
GO:00063257 | Cervix | CC | chromatin organization | 78/2311 | 409/18723 | 5.40e-05 | 8.02e-04 | 78 |
GO:00073695 | Cervix | CC | gastrulation | 42/2311 | 185/18723 | 5.83e-05 | 8.46e-04 | 42 |
GO:00506578 | Cervix | CC | nucleic acid transport | 38/2311 | 163/18723 | 7.06e-05 | 9.85e-04 | 38 |
GO:00506588 | Cervix | CC | RNA transport | 38/2311 | 163/18723 | 7.06e-05 | 9.85e-04 | 38 |
GO:00017018 | Cervix | CC | in utero embryonic development | 71/2311 | 367/18723 | 7.21e-05 | 1.00e-03 | 71 |
GO:00104525 | Cervix | CC | histone H3-K36 methylation | 8/2311 | 15/18723 | 1.53e-04 | 1.85e-03 | 8 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:20010209 | Cervix | CC | regulation of response to DNA damage stimulus | 46/2311 | 219/18723 | 1.92e-04 | 2.23e-03 | 46 |
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 |
SETD2 | SNV | Missense_Mutation | | c.5209N>G | p.Ser1737Gly | p.S1737G | Q9BYW2 | protein_coding | deleterious(0.01) | probably_damaging(0.97) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
SETD2 | SNV | Missense_Mutation | | c.310N>T | p.Pro104Ser | p.P104S | Q9BYW2 | protein_coding | tolerated(0.25) | benign(0.007) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SETD2 | SNV | Missense_Mutation | | c.4501N>C | p.Cys1501Arg | p.C1501R | Q9BYW2 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-E2-A14V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SETD2 | SNV | Missense_Mutation | | c.1214C>G | p.Ser405Cys | p.S405C | Q9BYW2 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SETD2 | SNV | Missense_Mutation | | c.4118G>T | p.Ser1373Ile | p.S1373I | Q9BYW2 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-E9-A1NC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
SETD2 | SNV | Missense_Mutation | | c.1570N>C | p.Asn524His | p.N524H | Q9BYW2 | protein_coding | tolerated_low_confidence(0.11) | benign(0) | TCGA-E9-A244-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SETD2 | SNV | Missense_Mutation | | c.4526G>C | p.Arg1509Thr | p.R1509T | Q9BYW2 | protein_coding | deleterious(0.02) | probably_damaging(0.994) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SETD2 | SNV | Missense_Mutation | novel | c.3331N>A | p.His1111Asn | p.H1111N | Q9BYW2 | protein_coding | tolerated_low_confidence(0.31) | benign(0.034) | TCGA-LL-A73Z-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
SETD2 | insertion | Frame_Shift_Ins | novel | c.6474_6475insCAGGTACTTAAGAGCAAGAACTCTATGTGTCCTCGCCCACTCA | p.Ala2159GlnfsTer39 | p.A2159Qfs*39 | Q9BYW2 | protein_coding | | | TCGA-A2-A0D2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SETD2 | insertion | In_Frame_Ins | novel | c.3497_3498insAAATGCAGAACAGTATGG | p.Asp1166delinsGluAsnAlaGluGlnTyrGly | p.D1166delinsENAEQYG | Q9BYW2 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | Cyclic octapeptide derivative 1 | | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | 2,2-dimethylbenzopyran derivative 1 | | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | HIF-1alpha | | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | PMID26882240-Compound-32 | | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | PX-478 | PX-478 | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | Pyrrolidine carboxamide derivative 1 | | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | PMID26882240-Compound-2 | | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | 2,2-dimethylbenzopyran derivative 2 | | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | Imidazo [1,2-a]pyridine compound 1 | | |
29072 | SETD2 | CLINICALLY ACTIONABLE, ENZYME, METHYL TRANSFERASE | | PMID26882240-Compound-14 | | |