Tissue | Expression Dynamics | Abbreviation |
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/HEG1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/HEG1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/HEG1_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:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:0010563111 | Esophagus | ESCC | negative regulation of phosphorus metabolic process | 274/8552 | 442/18723 | 2.32e-12 | 9.41e-11 | 274 |
GO:0045936111 | Esophagus | ESCC | negative regulation of phosphate metabolic process | 273/8552 | 441/18723 | 3.18e-12 | 1.25e-10 | 273 |
GO:0051348111 | Esophagus | ESCC | negative regulation of transferase activity | 177/8552 | 268/18723 | 1.08e-11 | 4.00e-10 | 177 |
GO:007190016 | Esophagus | ESCC | regulation of protein serine/threonine kinase activity | 227/8552 | 359/18723 | 1.12e-11 | 4.10e-10 | 227 |
GO:0042326111 | Esophagus | ESCC | negative regulation of phosphorylation | 237/8552 | 385/18723 | 1.86e-10 | 5.33e-09 | 237 |
GO:0001933111 | Esophagus | ESCC | negative regulation of protein phosphorylation | 213/8552 | 342/18723 | 3.54e-10 | 9.76e-09 | 213 |
GO:003367319 | Esophagus | ESCC | negative regulation of kinase activity | 154/8552 | 237/18723 | 1.38e-09 | 3.27e-08 | 154 |
GO:000646920 | Esophagus | ESCC | negative regulation of protein kinase activity | 140/8552 | 212/18723 | 1.53e-09 | 3.56e-08 | 140 |
GO:000726510 | Esophagus | ESCC | Ras protein signal transduction | 201/8552 | 337/18723 | 1.44e-07 | 2.30e-06 | 201 |
GO:00905599 | Esophagus | ESCC | regulation of membrane permeability | 58/8552 | 78/18723 | 2.38e-07 | 3.61e-06 | 58 |
GO:000206420 | Esophagus | ESCC | epithelial cell development | 136/8552 | 220/18723 | 9.50e-07 | 1.21e-05 | 136 |
GO:00303239 | Esophagus | ESCC | respiratory tube development | 112/8552 | 181/18723 | 7.82e-06 | 7.69e-05 | 112 |
GO:00097919 | Esophagus | ESCC | post-embryonic development | 56/8552 | 80/18723 | 9.08e-06 | 8.71e-05 | 56 |
GO:00605417 | Esophagus | ESCC | respiratory system development | 123/8552 | 203/18723 | 1.26e-05 | 1.15e-04 | 123 |
GO:00303249 | Esophagus | ESCC | lung development | 109/8552 | 177/18723 | 1.40e-05 | 1.27e-04 | 109 |
GO:00719014 | Esophagus | ESCC | negative regulation of protein serine/threonine kinase activity | 75/8552 | 120/18723 | 1.48e-04 | 9.88e-04 | 75 |
GO:000188510 | Esophagus | ESCC | endothelial cell development | 44/8552 | 64/18723 | 1.59e-04 | 1.05e-03 | 44 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
GO:00352647 | Esophagus | ESCC | multicellular organism growth | 80/8552 | 132/18723 | 3.84e-04 | 2.22e-03 | 80 |
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 |
HEG1 | SNV | Missense_Mutation | | c.1310N>T | p.Ser437Phe | p.S437F | Q9ULI3 | protein_coding | deleterious(0.01) | possibly_damaging(0.598) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
HEG1 | SNV | Missense_Mutation | | c.1527G>T | p.Glu509Asp | p.E509D | Q9ULI3 | protein_coding | deleterious(0.01) | possibly_damaging(0.775) | TCGA-A2-A0D4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
HEG1 | SNV | Missense_Mutation | | c.910N>C | p.Ser304Pro | p.S304P | Q9ULI3 | protein_coding | tolerated(0.07) | benign(0.007) | TCGA-A2-A0EU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HEG1 | SNV | Missense_Mutation | | c.2081N>T | p.Ser694Leu | p.S694L | Q9ULI3 | protein_coding | tolerated(0.06) | benign(0.021) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
HEG1 | SNV | Missense_Mutation | | c.831N>C | p.Lys277Asn | p.K277N | Q9ULI3 | protein_coding | deleterious(0.01) | benign(0.107) | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
HEG1 | SNV | Missense_Mutation | | c.524N>G | p.Ser175Cys | p.S175C | Q9ULI3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.95) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
HEG1 | SNV | Missense_Mutation | | c.382N>G | p.Gln128Glu | p.Q128E | Q9ULI3 | protein_coding | deleterious_low_confidence(0) | benign(0.039) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
HEG1 | SNV | Missense_Mutation | novel | c.1586N>T | p.Ser529Leu | p.S529L | Q9ULI3 | protein_coding | tolerated(0.08) | benign(0.022) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HEG1 | SNV | Missense_Mutation | | c.2305N>G | p.Met769Val | p.M769V | Q9ULI3 | protein_coding | tolerated(0.9) | benign(0) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
HEG1 | SNV | Missense_Mutation | | c.1942N>T | p.Val648Phe | p.V648F | Q9ULI3 | protein_coding | tolerated(0.16) | benign(0) | TCGA-B6-A0IJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |