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:00322593 | Skin | cSCC | methylation | 120/4864 | 364/18723 | 1.61e-03 | 9.93e-03 | 120 |
GO:00324654 | Skin | cSCC | regulation of cytokinesis | 37/4864 | 92/18723 | 1.94e-03 | 1.17e-02 | 37 |
GO:001657114 | Skin | cSCC | histone methylation | 52/4864 | 141/18723 | 2.74e-03 | 1.54e-02 | 52 |
GO:003514822 | Skin | cSCC | tube formation | 54/4864 | 148/18723 | 3.00e-03 | 1.66e-02 | 54 |
GO:007217521 | Skin | cSCC | epithelial tube formation | 49/4864 | 132/18723 | 3.06e-03 | 1.68e-02 | 49 |
GO:004683114 | Skin | cSCC | regulation of RNA export from nucleus | 8/4864 | 12/18723 | 3.61e-03 | 1.94e-02 | 8 |
GO:00062827 | Skin | cSCC | regulation of DNA repair | 47/4864 | 130/18723 | 6.52e-03 | 3.17e-02 | 47 |
GO:00324795 | Skin | cSCC | regulation of type I interferon production | 36/4864 | 95/18723 | 6.99e-03 | 3.38e-02 | 36 |
GO:00326065 | Skin | cSCC | type I interferon production | 36/4864 | 95/18723 | 6.99e-03 | 3.38e-02 | 36 |
GO:00513026 | Skin | cSCC | regulation of cell division | 61/4864 | 177/18723 | 7.34e-03 | 3.47e-02 | 61 |
GO:004886317 | Skin | cSCC | stem cell differentiation | 69/4864 | 206/18723 | 9.56e-03 | 4.30e-02 | 69 |
GO:0032386111 | Thyroid | PTC | regulation of intracellular transport | 202/5968 | 337/18723 | 1.12e-26 | 3.93e-24 | 202 |
GO:0006913112 | Thyroid | PTC | nucleocytoplasmic transport | 181/5968 | 301/18723 | 2.93e-24 | 7.69e-22 | 181 |
GO:0051169112 | Thyroid | PTC | nuclear transport | 181/5968 | 301/18723 | 2.93e-24 | 7.69e-22 | 181 |
GO:0006403112 | Thyroid | PTC | RNA localization | 130/5968 | 201/18723 | 9.23e-22 | 1.94e-19 | 130 |
GO:0051168112 | Thyroid | PTC | nuclear export | 102/5968 | 154/18723 | 1.78e-18 | 2.01e-16 | 102 |
GO:001657010 | Thyroid | PTC | histone modification | 235/5968 | 463/18723 | 1.17e-17 | 1.15e-15 | 235 |
GO:004682223 | Thyroid | PTC | regulation of nucleocytoplasmic transport | 76/5968 | 106/18723 | 4.11e-17 | 3.70e-15 | 76 |
GO:0051236110 | Thyroid | PTC | establishment of RNA localization | 100/5968 | 166/18723 | 4.26e-14 | 2.58e-12 | 100 |
GO:0050657110 | Thyroid | PTC | nucleic acid transport | 98/5968 | 163/18723 | 9.08e-14 | 4.90e-12 | 98 |
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 | | |