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Gene: ESR1 |
Gene summary for ESR1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ESR1 | Gene ID | 2099 |
| Gene name | estrogen receptor 1 | |
| Gene Alias | ER | |
| Cytomap | 6q25.1-q25.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | G4XH65 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 2099 | ESR1 | GSM4909281 | Human | Breast | IDC | 8.07e-06 | -1.24e-01 | 0.21 |
| 2099 | ESR1 | GSM4909282 | Human | Breast | IDC | 8.07e-06 | -1.24e-01 | -0.0288 |
| 2099 | ESR1 | GSM4909286 | Human | Breast | IDC | 8.07e-06 | -1.24e-01 | 0.1081 |
| 2099 | ESR1 | GSM4909293 | Human | Breast | IDC | 2.72e-51 | 8.64e-01 | 0.1581 |
| 2099 | ESR1 | GSM4909298 | Human | Breast | IDC | 7.24e-24 | 5.37e-01 | 0.1551 |
| 2099 | ESR1 | GSM4909301 | Human | Breast | IDC | 3.41e-52 | 1.05e+00 | 0.1577 |
| 2099 | ESR1 | GSM4909302 | Human | Breast | IDC | 2.79e-16 | 4.64e-01 | 0.1545 |
| 2099 | ESR1 | GSM4909303 | Human | Breast | IDC | 9.93e-07 | 4.06e-01 | 0.0438 |
| 2099 | ESR1 | GSM4909304 | Human | Breast | IDC | 2.08e-37 | 7.65e-01 | 0.1636 |
| 2099 | ESR1 | GSM4909305 | Human | Breast | IDC | 1.41e-04 | 2.31e-01 | 0.0436 |
| 2099 | ESR1 | GSM4909306 | Human | Breast | IDC | 3.30e-44 | 8.47e-01 | 0.1564 |
| 2099 | ESR1 | GSM4909307 | Human | Breast | IDC | 2.30e-36 | 8.59e-01 | 0.1569 |
| 2099 | ESR1 | GSM4909308 | Human | Breast | IDC | 1.86e-81 | 1.07e+00 | 0.158 |
| 2099 | ESR1 | GSM4909309 | Human | Breast | IDC | 2.26e-02 | 1.95e-01 | 0.0483 |
| 2099 | ESR1 | GSM4909311 | Human | Breast | IDC | 5.95e-08 | 1.49e-01 | 0.1534 |
| 2099 | ESR1 | GSM4909312 | Human | Breast | IDC | 6.30e-23 | 6.37e-01 | 0.1552 |
| 2099 | ESR1 | GSM4909313 | Human | Breast | IDC | 2.26e-13 | 4.81e-01 | 0.0391 |
| 2099 | ESR1 | GSM4909317 | Human | Breast | IDC | 1.44e-14 | 3.79e-01 | 0.1355 |
| 2099 | ESR1 | GSM4909318 | Human | Breast | IDC | 3.20e-03 | 4.62e-01 | 0.2031 |
| 2099 | ESR1 | GSM4909319 | Human | Breast | IDC | 1.25e-10 | 9.73e-03 | 0.1563 |
| Page: 1 2 3 4 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| 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 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
| Enriched KEGG pathways. |
| 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 |
| Page: 1 2 3 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ESR1 | STM | Endometrium | ADJ | NPAS3,VWA8,EYA2, etc. | 6.34e-01 |  |
| ESR1 | LC | Lung | MIAC | RBPJ,SSR4,FKBP11, etc. | 1.79e-01 |  |
| ESR1 | M2MAC | Lung | MIAC | RBPJ,SSR4,FKBP11, etc. | 3.28e-01 | |
| ESR1 | M1MAC | Lung | MIAC | RBPJ,SSR4,FKBP11, etc. | 3.01e-02 | |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 | c.617A>G | p.Lys206Arg | p.K206R | P03372 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| ESR1 | SNV | Missense_Mutation | rs771540162 | c.202N>A | p.Ala68Thr | p.A68T | P03372 | protein_coding | tolerated(0.42) | benign(0.213) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ESR1 | SNV | Missense_Mutation | c.808N>A | p.Gln270Lys | p.Q270K | P03372 | protein_coding | tolerated(0.25) | probably_damaging(0.913) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| ESR1 | SNV | Missense_Mutation | rs140555278 | c.148N>A | p.Ala50Thr | p.A50T | P03372 | protein_coding | tolerated(0.31) | benign(0.01) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
| ESR1 | SNV | Missense_Mutation | novel | c.154N>C | p.Tyr52His | p.Y52H | P03372 | protein_coding | tolerated(0.45) | possibly_damaging(0.87) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ESR1 | SNV | Missense_Mutation | novel | c.1217C>A | p.Pro406His | p.P406H | P03372 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| ESR1 | SNV | Missense_Mutation | c.1556A>G | p.Asn519Ser | p.N519S | P03372 | protein_coding | deleterious(0.01) | possibly_damaging(0.773) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| ESR1 | SNV | Missense_Mutation | c.25N>A | p.Ala9Thr | p.A9T | P03372 | protein_coding | tolerated_low_confidence(0.46) | benign(0.001) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
| ESR1 | SNV | Missense_Mutation | rs778449608 | c.739N>A | p.Glu247Lys | p.E247K | P03372 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| ESR1 | SNV | Missense_Mutation | rs141662120 | c.1754N>T | p.Thr585Met | p.T585M | P03372 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.533) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| 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 |
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