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/EGR1_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/EGR1_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/EGR1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/EGR1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![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/GC/EGR1_pca_on_diff_genes.png) | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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/EGR1_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/EGR1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | ![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/OralCavity/EGR1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/EGR1_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/EGR1_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/EGR1_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:000717814 | Endometrium | EEC | transmembrane receptor protein serine/threonine kinase signaling pathway | 68/2168 | 355/18723 | 1.90e-05 | 3.50e-04 | 68 |
GO:003367415 | Endometrium | EEC | positive regulation of kinase activity | 83/2168 | 467/18723 | 4.32e-05 | 7.10e-04 | 83 |
GO:007048216 | Endometrium | EEC | response to oxygen levels | 65/2168 | 347/18723 | 5.81e-05 | 9.03e-04 | 65 |
GO:004211014 | Endometrium | EEC | T cell activation | 85/2168 | 487/18723 | 6.81e-05 | 1.01e-03 | 85 |
GO:004343416 | Endometrium | EEC | response to peptide hormone | 74/2168 | 414/18723 | 9.11e-05 | 1.28e-03 | 74 |
GO:004586014 | Endometrium | EEC | positive regulation of protein kinase activity | 69/2168 | 386/18723 | 1.55e-04 | 1.96e-03 | 69 |
GO:00426981 | Endometrium | EEC | ovulation cycle | 19/2168 | 68/18723 | 1.84e-04 | 2.26e-03 | 19 |
GO:000165611 | Endometrium | EEC | metanephros development | 22/2168 | 85/18723 | 2.02e-04 | 2.44e-03 | 22 |
GO:003629316 | Endometrium | EEC | response to decreased oxygen levels | 59/2168 | 322/18723 | 2.30e-04 | 2.73e-03 | 59 |
GO:000751712 | Endometrium | EEC | muscle organ development | 59/2168 | 327/18723 | 3.49e-04 | 3.85e-03 | 59 |
GO:000166616 | Endometrium | EEC | response to hypoxia | 56/2168 | 307/18723 | 3.68e-04 | 3.96e-03 | 56 |
GO:007147915 | Endometrium | EEC | cellular response to ionizing radiation | 19/2168 | 72/18723 | 4.11e-04 | 4.35e-03 | 19 |
GO:003017812 | Endometrium | EEC | negative regulation of Wnt signaling pathway | 35/2168 | 170/18723 | 4.84e-04 | 4.96e-03 | 35 |
GO:003050911 | Endometrium | EEC | BMP signaling pathway | 32/2168 | 152/18723 | 5.52e-04 | 5.52e-03 | 32 |
GO:004362017 | Endometrium | EEC | regulation of DNA-templated transcription in response to stress | 15/2168 | 53/18723 | 7.36e-04 | 7.01e-03 | 15 |
GO:007121414 | Endometrium | EEC | cellular response to abiotic stimulus | 58/2168 | 331/18723 | 8.25e-04 | 7.64e-03 | 58 |
GO:010400414 | Endometrium | EEC | cellular response to environmental stimulus | 58/2168 | 331/18723 | 8.25e-04 | 7.64e-03 | 58 |
GO:009009011 | Endometrium | EEC | negative regulation of canonical Wnt signaling pathway | 29/2168 | 137/18723 | 8.94e-04 | 8.12e-03 | 29 |
GO:007177211 | Endometrium | EEC | response to BMP | 33/2168 | 165/18723 | 1.16e-03 | 9.90e-03 | 33 |
GO:007177311 | Endometrium | EEC | cellular response to BMP stimulus | 33/2168 | 165/18723 | 1.16e-03 | 9.90e-03 | 33 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0502016 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
hsa0516618 | Breast | Precancer | Human T-cell leukemia virus 1 infection | 33/684 | 222/8465 | 4.29e-04 | 3.31e-03 | 2.53e-03 | 33 |
hsa0502017 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
hsa0516619 | Breast | Precancer | Human T-cell leukemia virus 1 infection | 33/684 | 222/8465 | 4.29e-04 | 3.31e-03 | 2.53e-03 | 33 |
hsa0502023 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
hsa0516624 | Breast | IDC | Human T-cell leukemia virus 1 infection | 40/867 | 222/8465 | 2.52e-04 | 2.21e-03 | 1.66e-03 | 40 |
hsa0502033 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
hsa0516634 | Breast | IDC | Human T-cell leukemia virus 1 infection | 40/867 | 222/8465 | 2.52e-04 | 2.21e-03 | 1.66e-03 | 40 |
hsa0502043 | Breast | DCIS | Prion disease | 100/846 | 273/8465 | 1.44e-33 | 1.55e-31 | 1.14e-31 | 100 |
hsa0516642 | Breast | DCIS | Human T-cell leukemia virus 1 infection | 41/846 | 222/8465 | 7.03e-05 | 6.88e-04 | 5.07e-04 | 41 |
hsa0502053 | Breast | DCIS | Prion disease | 100/846 | 273/8465 | 1.44e-33 | 1.55e-31 | 1.14e-31 | 100 |
hsa0516652 | Breast | DCIS | Human T-cell leukemia virus 1 infection | 41/846 | 222/8465 | 7.03e-05 | 6.88e-04 | 5.07e-04 | 41 |
hsa0502018 | Cervix | CC | Prion disease | 98/1267 | 273/8465 | 2.64e-18 | 1.42e-16 | 8.42e-17 | 98 |
hsa0516620 | Cervix | CC | Human T-cell leukemia virus 1 infection | 61/1267 | 222/8465 | 8.13e-07 | 7.98e-06 | 4.72e-06 | 61 |
hsa0491212 | Cervix | CC | GnRH signaling pathway | 26/1267 | 93/8465 | 8.72e-04 | 3.87e-03 | 2.29e-03 | 26 |
hsa0492812 | Cervix | CC | Parathyroid hormone synthesis, secretion and action | 27/1267 | 106/8465 | 3.12e-03 | 1.19e-02 | 7.03e-03 | 27 |
hsa049336 | Cervix | CC | AGE-RAGE signaling pathway in diabetic complications | 25/1267 | 100/8465 | 5.64e-03 | 1.88e-02 | 1.11e-02 | 25 |
hsa0502019 | Cervix | CC | Prion disease | 98/1267 | 273/8465 | 2.64e-18 | 1.42e-16 | 8.42e-17 | 98 |
hsa05166110 | Cervix | CC | Human T-cell leukemia virus 1 infection | 61/1267 | 222/8465 | 8.13e-07 | 7.98e-06 | 4.72e-06 | 61 |
hsa0491213 | Cervix | CC | GnRH signaling pathway | 26/1267 | 93/8465 | 8.72e-04 | 3.87e-03 | 2.29e-03 | 26 |
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 |
EGR1 | SNV | Missense_Mutation | | c.1145A>G | p.His382Arg | p.H382R | P18146 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
EGR1 | insertion | Frame_Shift_Ins | novel | c.358_359insCCGTGATCCTTGGCCGTGGATGTCCCGGCAGCCCGGGTTTGGG | p.Ser120ThrfsTer110 | p.S120Tfs*110 | P18146 | protein_coding | | | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EGR1 | insertion | Frame_Shift_Ins | rs746692720 | c.993_994insC | p.His334ProfsTer13 | p.H334Pfs*13 | P18146 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EGR1 | SNV | Missense_Mutation | novel | c.1258N>T | p.Arg420Trp | p.R420W | P18146 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EGR1 | SNV | Missense_Mutation | | c.62G>A | p.Gly21Glu | p.G21E | P18146 | protein_coding | deleterious_low_confidence(0.01) | benign(0.186) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
EGR1 | SNV | Missense_Mutation | | c.1055C>T | p.Ser352Phe | p.S352F | P18146 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
EGR1 | SNV | Missense_Mutation | novel | c.1070G>T | p.Arg357Leu | p.R357L | P18146 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EK-A2R9-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EGR1 | SNV | Missense_Mutation | novel | c.114N>A | p.Met38Ile | p.M38I | P18146 | protein_coding | tolerated_low_confidence(0.1) | benign(0.015) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EGR1 | SNV | Missense_Mutation | novel | c.931T>C | p.Tyr311His | p.Y311H | P18146 | protein_coding | tolerated(0.12) | probably_damaging(0.96) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
EGR1 | SNV | Missense_Mutation | | c.964C>T | p.Arg322Cys | p.R322C | P18146 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |