Tissue | Expression Dynamics | Abbreviation |
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/NREP_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/NREP_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/NREP_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/NREP_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/NREP_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/NREP_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:00615648 | Endometrium | AEH | axon development | 88/2100 | 467/18723 | 6.39e-07 | 2.38e-05 | 88 |
GO:00715596 | Endometrium | AEH | response to transforming growth factor beta | 53/2100 | 256/18723 | 7.01e-06 | 1.69e-04 | 53 |
GO:00071787 | Endometrium | AEH | transmembrane receptor protein serine/threonine kinase signaling pathway | 67/2100 | 355/18723 | 1.28e-05 | 2.80e-04 | 67 |
GO:00715606 | Endometrium | AEH | cellular response to transforming growth factor beta stimulus | 51/2100 | 250/18723 | 1.59e-05 | 3.32e-04 | 51 |
GO:00310997 | Endometrium | AEH | regeneration | 41/2100 | 198/18723 | 7.29e-05 | 1.11e-03 | 41 |
GO:00071796 | Endometrium | AEH | transforming growth factor beta receptor signaling pathway | 38/2100 | 198/18723 | 6.41e-04 | 6.23e-03 | 38 |
GO:00900922 | Endometrium | AEH | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 43/2100 | 256/18723 | 4.47e-03 | 2.93e-02 | 43 |
GO:006156412 | Endometrium | EEC | axon development | 93/2168 | 467/18723 | 9.60e-08 | 4.69e-06 | 93 |
GO:003109914 | Endometrium | EEC | regeneration | 45/2168 | 198/18723 | 6.19e-06 | 1.49e-04 | 45 |
GO:007155914 | Endometrium | EEC | response to transforming growth factor beta | 54/2168 | 256/18723 | 8.25e-06 | 1.83e-04 | 54 |
GO:007156014 | Endometrium | EEC | cellular response to transforming growth factor beta stimulus | 52/2168 | 250/18723 | 1.81e-05 | 3.41e-04 | 52 |
GO:000717814 | Endometrium | EEC | transmembrane receptor protein serine/threonine kinase signaling pathway | 68/2168 | 355/18723 | 1.90e-05 | 3.50e-04 | 68 |
GO:000717914 | Endometrium | EEC | transforming growth factor beta receptor signaling pathway | 39/2168 | 198/18723 | 6.03e-04 | 5.98e-03 | 39 |
GO:0031102 | Endometrium | EEC | neuron projection regeneration | 15/2168 | 60/18723 | 2.88e-03 | 2.03e-02 | 15 |
GO:009009211 | Endometrium | EEC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 44/2168 | 256/18723 | 4.72e-03 | 3.00e-02 | 44 |
GO:00311031 | Endometrium | EEC | axon regeneration | 13/2168 | 52/18723 | 5.34e-03 | 3.31e-02 | 13 |
GO:00486783 | Endometrium | EEC | response to axon injury | 18/2168 | 83/18723 | 6.04e-03 | 3.57e-02 | 18 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:00715609 | Esophagus | ESCC | cellular response to transforming growth factor beta stimulus | 151/8552 | 250/18723 | 1.78e-06 | 2.10e-05 | 151 |
GO:003109910 | Esophagus | ESCC | regeneration | 122/8552 | 198/18723 | 4.26e-06 | 4.57e-05 | 122 |
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 |
NREP | SNV | Missense_Mutation | | c.245G>A | p.Arg82His | p.R82H | Q16612 | protein_coding | deleterious(0.05) | probably_damaging(1) | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD |
NREP | SNV | Missense_Mutation | rs756211201 | c.35N>A | p.Arg12Gln | p.R12Q | Q16612 | protein_coding | deleterious_low_confidence(0) | benign(0) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
NREP | SNV | Missense_Mutation | | c.224C>T | p.Pro75Leu | p.P75L | Q16612 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
NREP | SNV | Missense_Mutation | | c.245N>A | p.Arg82His | p.R82H | Q16612 | protein_coding | deleterious(0.05) | probably_damaging(1) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NREP | SNV | Missense_Mutation | rs1802827 | c.290G>A | p.Gly97Asp | p.G97D | Q16612 | protein_coding | deleterious(0.04) | possibly_damaging(0.836) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NREP | SNV | Missense_Mutation | | c.244N>T | p.Arg82Cys | p.R82C | Q16612 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NREP | SNV | Missense_Mutation | novel | c.314N>A | p.Arg105Lys | p.R105K | Q16612 | protein_coding | tolerated(0.59) | benign(0.005) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NREP | SNV | Missense_Mutation | novel | c.314G>T | p.Arg105Ile | p.R105I | Q16612 | protein_coding | deleterious(0.03) | benign(0.403) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
NREP | SNV | Missense_Mutation | | c.61N>G | p.Arg21Gly | p.R21G | Q16612 | protein_coding | deleterious_low_confidence(0.02) | benign(0) | TCGA-B5-A0JN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | SD |
NREP | SNV | Missense_Mutation | | c.6A>C | p.Lys2Asn | p.K2N | Q16612 | protein_coding | deleterious_low_confidence(0) | benign(0.007) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |