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/SETD2_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/SETD2_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/SETD2_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/SETD2_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/SETD2_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/SETD2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/SETD2_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/SETD2_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/SETD2_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:000189020 | Skin | AK | placenta development | 33/1910 | 144/18723 | 6.49e-06 | 1.47e-04 | 33 |
GO:00182058 | Skin | AK | peptidyl-lysine modification | 66/1910 | 376/18723 | 7.80e-06 | 1.72e-04 | 66 |
GO:00309006 | Skin | AK | forebrain development | 66/1910 | 379/18723 | 1.02e-05 | 2.17e-04 | 66 |
GO:00063688 | Skin | AK | transcription elongation from RNA polymerase II promoter | 20/1910 | 69/18723 | 1.14e-05 | 2.37e-04 | 20 |
GO:00064799 | Skin | AK | protein methylation | 38/1910 | 181/18723 | 1.21e-05 | 2.46e-04 | 38 |
GO:00082139 | Skin | AK | protein alkylation | 38/1910 | 181/18723 | 1.21e-05 | 2.46e-04 | 38 |
GO:000189220 | Skin | AK | embryonic placenta development | 22/1910 | 82/18723 | 1.65e-05 | 3.16e-04 | 22 |
GO:00074927 | Skin | AK | endoderm development | 21/1910 | 77/18723 | 1.95e-05 | 3.64e-04 | 21 |
GO:000091017 | Skin | AK | cytokinesis | 36/1910 | 173/18723 | 2.48e-05 | 4.47e-04 | 36 |
GO:000961519 | Skin | AK | response to virus | 63/1910 | 367/18723 | 2.53e-05 | 4.54e-04 | 63 |
GO:00163317 | Skin | AK | morphogenesis of embryonic epithelium | 32/1910 | 147/18723 | 2.69e-05 | 4.76e-04 | 32 |
GO:00349689 | Skin | AK | histone lysine methylation | 27/1910 | 115/18723 | 2.75e-05 | 4.81e-04 | 27 |
GO:00165719 | Skin | AK | histone methylation | 31/1910 | 141/18723 | 2.92e-05 | 5.02e-04 | 31 |
GO:003514816 | Skin | AK | tube formation | 32/1910 | 148/18723 | 3.11e-05 | 5.26e-04 | 32 |
GO:00017065 | Skin | AK | endoderm formation | 16/1910 | 54/18723 | 6.27e-05 | 9.23e-04 | 16 |
GO:000183810 | Skin | AK | embryonic epithelial tube formation | 27/1910 | 121/18723 | 7.10e-05 | 1.02e-03 | 27 |
GO:005105216 | Skin | AK | regulation of DNA metabolic process | 60/1910 | 359/18723 | 8.56e-05 | 1.17e-03 | 60 |
GO:00488639 | Skin | AK | stem cell differentiation | 39/1910 | 206/18723 | 1.06e-04 | 1.38e-03 | 39 |
GO:006056216 | Skin | AK | epithelial tube morphogenesis | 55/1910 | 325/18723 | 1.19e-04 | 1.50e-03 | 55 |
GO:007217510 | Skin | AK | epithelial tube formation | 28/1910 | 132/18723 | 1.34e-04 | 1.66e-03 | 28 |
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 | | |