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:00017016 | Lung | IAC | in utero embryonic development | 68/2061 | 367/18723 | 1.12e-05 | 3.45e-04 | 68 |
GO:00018906 | Lung | IAC | placenta development | 33/2061 | 144/18723 | 3.14e-05 | 8.00e-04 | 33 |
GO:00018926 | Lung | IAC | embryonic placenta development | 22/2061 | 82/18723 | 5.36e-05 | 1.21e-03 | 22 |
GO:20010207 | Lung | IAC | regulation of response to DNA damage stimulus | 44/2061 | 219/18723 | 5.50e-05 | 1.22e-03 | 44 |
GO:0032239 | Lung | IAC | regulation of nucleobase-containing compound transport | 8/2061 | 15/18723 | 6.70e-05 | 1.44e-03 | 8 |
GO:00323867 | Lung | IAC | regulation of intracellular transport | 60/2061 | 337/18723 | 1.16e-04 | 2.22e-03 | 60 |
GO:00017634 | Lung | IAC | morphogenesis of a branching structure | 39/2061 | 196/18723 | 1.75e-04 | 3.10e-03 | 39 |
GO:00063256 | Lung | IAC | chromatin organization | 69/2061 | 409/18723 | 2.01e-04 | 3.53e-03 | 69 |
GO:00018416 | Lung | IAC | neural tube formation | 24/2061 | 102/18723 | 2.35e-04 | 4.04e-03 | 24 |
GO:00512367 | Lung | IAC | establishment of RNA localization | 34/2061 | 166/18723 | 2.52e-04 | 4.24e-03 | 34 |
GO:00315032 | Lung | IAC | protein-containing complex localization | 42/2061 | 220/18723 | 2.60e-04 | 4.32e-03 | 42 |
GO:00510283 | Lung | IAC | mRNA transport | 28/2061 | 130/18723 | 3.64e-04 | 5.66e-03 | 28 |
GO:00506577 | Lung | IAC | nucleic acid transport | 33/2061 | 163/18723 | 3.85e-04 | 5.87e-03 | 33 |
GO:00506587 | Lung | IAC | RNA transport | 33/2061 | 163/18723 | 3.85e-04 | 5.87e-03 | 33 |
GO:00140205 | Lung | IAC | primary neural tube formation | 22/2061 | 94/18723 | 4.55e-04 | 6.70e-03 | 22 |
GO:00349684 | Lung | IAC | histone lysine methylation | 25/2061 | 115/18723 | 6.35e-04 | 8.68e-03 | 25 |
GO:00096156 | Lung | IAC | response to virus | 61/2061 | 367/18723 | 6.75e-04 | 9.12e-03 | 61 |
GO:00182053 | Lung | IAC | peptidyl-lysine modification | 62/2061 | 376/18723 | 7.55e-04 | 9.82e-03 | 62 |
GO:00180223 | Lung | IAC | peptidyl-lysine methylation | 27/2061 | 131/18723 | 9.41e-04 | 1.14e-02 | 27 |
GO:00488633 | Lung | IAC | stem cell differentiation | 38/2061 | 206/18723 | 9.79e-04 | 1.18e-02 | 38 |
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.7469G>A | p.Arg2490Gln | p.R2490Q | Q9BYW2 | protein_coding | deleterious(0.02) | possibly_damaging(0.785) | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
SETD2 | SNV | Missense_Mutation | novel | c.6355N>A | p.Glu2119Lys | p.E2119K | Q9BYW2 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
SETD2 | SNV | Missense_Mutation | | c.6071N>A | p.Arg2024Gln | p.R2024Q | Q9BYW2 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SETD2 | SNV | Missense_Mutation | novel | c.3713N>A | p.Ser1238Tyr | p.S1238Y | Q9BYW2 | protein_coding | tolerated_low_confidence(0.08) | benign(0.125) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SETD2 | SNV | Missense_Mutation | | c.1736N>G | p.Asn579Ser | p.N579S | Q9BYW2 | protein_coding | tolerated_low_confidence(0.48) | benign(0) | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SETD2 | SNV | Missense_Mutation | novel | c.5004C>G | p.Phe1668Leu | p.F1668L | Q9BYW2 | protein_coding | deleterious(0.02) | probably_damaging(0.985) | TCGA-BH-A0GZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
SETD2 | SNV | Missense_Mutation | | c.1012G>C | p.Asp338His | p.D338H | Q9BYW2 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.956) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
SETD2 | SNV | Missense_Mutation | | c.6604C>T | p.Pro2202Ser | p.P2202S | Q9BYW2 | protein_coding | tolerated(0.49) | benign(0.001) | TCGA-C8-A131-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
SETD2 | SNV | Missense_Mutation | | c.4874N>T | p.Arg1625Leu | p.R1625L | Q9BYW2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C8-A274-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
SETD2 | SNV | Missense_Mutation | | c.1760N>G | p.Ser587Cys | p.S587C | Q9BYW2 | protein_coding | tolerated_low_confidence(0.12) | benign(0.014) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
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 | | |