Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/ESR1_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/ESR1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | ![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/Endometrium/ESR1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/ESR1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00485459 | Breast | Precancer | response to steroid hormone | 53/1080 | 339/18723 | 3.07e-11 | 3.66e-09 | 53 |
GO:00432549 | Breast | Precancer | regulation of protein-containing complex assembly | 50/1080 | 428/18723 | 1.63e-06 | 5.97e-05 | 50 |
GO:00075653 | Breast | Precancer | female pregnancy | 29/1080 | 193/18723 | 2.07e-06 | 7.31e-05 | 29 |
GO:00313349 | Breast | Precancer | positive regulation of protein-containing complex assembly | 33/1080 | 237/18723 | 2.39e-06 | 8.21e-05 | 33 |
GO:00447063 | Breast | Precancer | multi-multicellular organism process | 31/1080 | 220/18723 | 3.73e-06 | 1.19e-04 | 31 |
GO:00487329 | Breast | Precancer | gland development | 49/1080 | 436/18723 | 6.11e-06 | 1.73e-04 | 49 |
GO:0050727 | Breast | Precancer | regulation of inflammatory response | 44/1080 | 386/18723 | 1.26e-05 | 3.22e-04 | 44 |
GO:00713838 | Breast | Precancer | cellular response to steroid hormone stimulus | 28/1080 | 204/18723 | 1.78e-05 | 4.26e-04 | 28 |
GO:00436273 | Breast | Precancer | response to estrogen | 15/1080 | 75/18723 | 2.06e-05 | 4.83e-04 | 15 |
GO:00506736 | Breast | Precancer | epithelial cell proliferation | 46/1080 | 437/18723 | 6.02e-05 | 1.23e-03 | 46 |
GO:00335983 | Breast | Precancer | mammary gland epithelial cell proliferation | 8/1080 | 26/18723 | 7.33e-05 | 1.44e-03 | 8 |
GO:00486087 | Breast | Precancer | reproductive structure development | 43/1080 | 424/18723 | 2.36e-04 | 3.56e-03 | 43 |
GO:00614587 | Breast | Precancer | reproductive system development | 43/1080 | 427/18723 | 2.75e-04 | 4.00e-03 | 43 |
GO:00323555 | Breast | Precancer | response to estradiol | 19/1080 | 141/18723 | 4.81e-04 | 6.31e-03 | 19 |
GO:00305187 | Breast | Precancer | intracellular steroid hormone receptor signaling pathway | 16/1080 | 116/18723 | 1.01e-03 | 1.13e-02 | 16 |
GO:00481453 | Breast | Precancer | regulation of fibroblast proliferation | 12/1080 | 80/18723 | 2.03e-03 | 1.94e-02 | 12 |
GO:00481443 | Breast | Precancer | fibroblast proliferation | 12/1080 | 81/18723 | 2.26e-03 | 2.12e-02 | 12 |
GO:0060749 | Breast | Precancer | mammary gland alveolus development | 5/1080 | 18/18723 | 2.88e-03 | 2.49e-02 | 5 |
GO:0061377 | Breast | Precancer | mammary gland lobule development | 5/1080 | 18/18723 | 2.88e-03 | 2.49e-02 | 5 |
GO:00305228 | Breast | Precancer | intracellular receptor signaling pathway | 27/1080 | 265/18723 | 2.99e-03 | 2.57e-02 | 27 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0491518 | Breast | Precancer | Estrogen signaling pathway | 28/684 | 138/8465 | 4.10e-06 | 5.39e-05 | 4.13e-05 | 28 |
hsa0520514 | Breast | Precancer | Proteoglycans in cancer | 30/684 | 205/8465 | 1.00e-03 | 7.18e-03 | 5.50e-03 | 30 |
hsa0496110 | Breast | Precancer | Endocrine and other factor-regulated calcium reabsorption | 11/684 | 53/8465 | 2.92e-03 | 1.81e-02 | 1.39e-02 | 11 |
hsa0491519 | Breast | Precancer | Estrogen signaling pathway | 28/684 | 138/8465 | 4.10e-06 | 5.39e-05 | 4.13e-05 | 28 |
hsa0520515 | Breast | Precancer | Proteoglycans in cancer | 30/684 | 205/8465 | 1.00e-03 | 7.18e-03 | 5.50e-03 | 30 |
hsa0496111 | Breast | Precancer | Endocrine and other factor-regulated calcium reabsorption | 11/684 | 53/8465 | 2.92e-03 | 1.81e-02 | 1.39e-02 | 11 |
hsa0491523 | Breast | IDC | Estrogen signaling pathway | 35/867 | 138/8465 | 2.55e-07 | 5.18e-06 | 3.88e-06 | 35 |
hsa0520523 | Breast | IDC | Proteoglycans in cancer | 42/867 | 205/8465 | 7.69e-06 | 9.99e-05 | 7.48e-05 | 42 |
hsa0491916 | Breast | IDC | Thyroid hormone signaling pathway | 23/867 | 121/8465 | 2.45e-03 | 1.69e-02 | 1.27e-02 | 23 |
hsa0496121 | Breast | IDC | Endocrine and other factor-regulated calcium reabsorption | 12/867 | 53/8465 | 6.29e-03 | 3.30e-02 | 2.47e-02 | 12 |
hsa0491533 | Breast | IDC | Estrogen signaling pathway | 35/867 | 138/8465 | 2.55e-07 | 5.18e-06 | 3.88e-06 | 35 |
hsa0520533 | Breast | IDC | Proteoglycans in cancer | 42/867 | 205/8465 | 7.69e-06 | 9.99e-05 | 7.48e-05 | 42 |
hsa0491917 | Breast | IDC | Thyroid hormone signaling pathway | 23/867 | 121/8465 | 2.45e-03 | 1.69e-02 | 1.27e-02 | 23 |
hsa0496131 | Breast | IDC | Endocrine and other factor-regulated calcium reabsorption | 12/867 | 53/8465 | 6.29e-03 | 3.30e-02 | 2.47e-02 | 12 |
hsa0491542 | Breast | DCIS | Estrogen signaling pathway | 35/846 | 138/8465 | 1.40e-07 | 2.51e-06 | 1.85e-06 | 35 |
hsa0520542 | Breast | DCIS | Proteoglycans in cancer | 39/846 | 205/8465 | 5.36e-05 | 5.58e-04 | 4.11e-04 | 39 |
hsa0491922 | Breast | DCIS | Thyroid hormone signaling pathway | 23/846 | 121/8465 | 1.78e-03 | 1.22e-02 | 9.00e-03 | 23 |
hsa0491552 | Breast | DCIS | Estrogen signaling pathway | 35/846 | 138/8465 | 1.40e-07 | 2.51e-06 | 1.85e-06 | 35 |
hsa0520552 | Breast | DCIS | Proteoglycans in cancer | 39/846 | 205/8465 | 5.36e-05 | 5.58e-04 | 4.11e-04 | 39 |
hsa0491932 | Breast | DCIS | Thyroid hormone signaling pathway | 23/846 | 121/8465 | 1.78e-03 | 1.22e-02 | 9.00e-03 | 23 |
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 |
ESR1 | SNV | Missense_Mutation | novel | c.51N>C | p.Gln17His | p.Q17H | P03372 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.997) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ESR1 | SNV | Missense_Mutation | novel | c.1778C>A | p.Ala593Asp | p.A593D | P03372 | protein_coding | tolerated_low_confidence(0.2) | benign(0.012) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ESR1 | SNV | Missense_Mutation | | c.1138N>C | p.Glu380Gln | p.E380Q | P03372 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
ESR1 | SNV | Missense_Mutation | | c.664N>T | p.Pro222Ser | p.P222S | P03372 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
ESR1 | SNV | Missense_Mutation | | c.1110N>C | p.Leu370Phe | p.L370F | P03372 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
ESR1 | SNV | Missense_Mutation | | c.1138N>C | p.Glu380Gln | p.E380Q | P03372 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ESR1 | insertion | Frame_Shift_Ins | novel | c.993_994insAGTATTTACACCATGAAAACTGCTACAAATA | p.Asp332SerfsTer18 | p.D332Sfs*18 | P03372 | protein_coding | | | TCGA-A2-A04Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ESR1 | insertion | Nonsense_Mutation | novel | c.1029_1030insCCTTTTAATTTACTATTAAAAGAATATTCCTAGCAGAAGTAGTCTT | p.Gly344ProfsTer11 | p.G344Pfs*11 | P03372 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ESR1 | insertion | Frame_Shift_Ins | novel | c.1553_1553+1insTAACAAA | p.Gly521Ter | p.G521* | P03372 | protein_coding | | | TCGA-LL-A5YM-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unspecific | letrozole | PD |
ESR1 | SNV | Missense_Mutation | novel | c.894N>G | p.Ile298Met | p.I298M | P03372 | protein_coding | tolerated(0.14) | benign(0.101) | TCGA-C5-A8XJ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | PYRITHIONE ZINC | PYRITHIONE ZINC | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | lapatinib | LAPATINIB | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | RALOXIFENE | RALOXIFENE | 20659801 |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | Lapatinib | LAPATINIB | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | Estrone | ESTRONE | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | Quinestrol | QUINESTROL | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | Mitotane | MITOTANE | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | LETROZOLE | LETROZOLE | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | 4-TRIETHYLSILYLPHENOL | CHEMBL2313445 | 23214428 |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | agonist | 178103650 | ETHINYL ESTRADIOL | |