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:00609651 | Lung | AIS | negative regulation of gene silencing by miRNA | 8/1849 | 22/18723 | 8.01e-04 | 1.12e-02 | 8 |
GO:000975512 | Lung | AIS | hormone-mediated signaling pathway | 33/1849 | 190/18723 | 9.44e-04 | 1.25e-02 | 33 |
GO:005109011 | Lung | AIS | regulation of DNA-binding transcription factor activity | 64/1849 | 440/18723 | 1.04e-03 | 1.36e-02 | 64 |
GO:003519612 | Lung | AIS | production of miRNAs involved in gene silencing by miRNA | 13/1849 | 52/18723 | 1.30e-03 | 1.63e-02 | 13 |
GO:004873213 | Lung | AIS | gland development | 63/1849 | 436/18723 | 1.34e-03 | 1.66e-02 | 63 |
GO:00601491 | Lung | AIS | negative regulation of posttranscriptional gene silencing | 8/1849 | 24/18723 | 1.54e-03 | 1.82e-02 | 8 |
GO:00609671 | Lung | AIS | negative regulation of gene silencing by RNA | 8/1849 | 24/18723 | 1.54e-03 | 1.82e-02 | 8 |
GO:005109111 | Lung | AIS | positive regulation of DNA-binding transcription factor activity | 41/1849 | 260/18723 | 1.77e-03 | 2.01e-02 | 41 |
GO:003105012 | Lung | AIS | dsRNA processing | 13/1849 | 54/18723 | 1.89e-03 | 2.09e-02 | 13 |
GO:007091812 | Lung | AIS | production of small RNA involved in gene silencing by RNA | 13/1849 | 54/18723 | 1.89e-03 | 2.09e-02 | 13 |
GO:0008585 | Lung | AIS | female gonad development | 19/1849 | 95/18723 | 2.13e-03 | 2.30e-02 | 19 |
GO:005067312 | Lung | AIS | epithelial cell proliferation | 62/1849 | 437/18723 | 2.26e-03 | 2.39e-02 | 62 |
GO:00226126 | Lung | AIS | gland morphogenesis | 22/1849 | 118/18723 | 2.55e-03 | 2.62e-02 | 22 |
GO:003235511 | Lung | AIS | response to estradiol | 25/1849 | 141/18723 | 2.78e-03 | 2.77e-02 | 25 |
GO:000176311 | Lung | AIS | morphogenesis of a branching structure | 32/1849 | 196/18723 | 3.10e-03 | 3.00e-02 | 32 |
GO:0030850 | Lung | AIS | prostate gland development | 11/1849 | 45/18723 | 3.63e-03 | 3.42e-02 | 11 |
GO:0046660 | Lung | AIS | female sex differentiation | 21/1849 | 114/18723 | 3.66e-03 | 3.44e-02 | 21 |
GO:0046545 | Lung | AIS | development of primary female sexual characteristics | 19/1849 | 100/18723 | 3.90e-03 | 3.59e-02 | 19 |
GO:00609691 | Lung | AIS | negative regulation of gene silencing | 8/1849 | 29/18723 | 5.75e-03 | 4.81e-02 | 8 |
GO:00481461 | Lung | AIS | positive regulation of fibroblast proliferation | 11/1849 | 48/18723 | 6.14e-03 | 4.98e-02 | 11 |
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 | | Premarin/Pravachol | | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | agonist | 384403649 | STANOZOLOL | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | Exemestane | EXEMESTANE | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | GTx-758 | GTX-758 | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | agonist,antagonist | 135651233 | TAMOXIFEN | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | TTC-352 | | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | METHOXSALEN | METHOXSALEN | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | ZERANOL | ZERANOL | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | Palbociclib | PALBOCICLIB | |
2099 | ESR1 | DRUG RESISTANCE, DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX, KINASE, TRANSCRIPTION FACTOR | | 4-(1,1-DIETHYLPROPYL)PHENOL | CHEMBL2313444 | 23214428 |