Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/HR_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/HR_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/HR_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/HR_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/HR_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00434847 | Liver | NAFLD | regulation of RNA splicing | 35/1882 | 148/18723 | 1.14e-06 | 5.55e-05 | 35 |
GO:1903035 | Liver | NAFLD | negative regulation of response to wounding | 26/1882 | 94/18723 | 1.18e-06 | 5.66e-05 | 26 |
GO:00506846 | Liver | NAFLD | regulation of mRNA processing | 33/1882 | 137/18723 | 1.47e-06 | 6.73e-05 | 33 |
GO:00315896 | Liver | NAFLD | cell-substrate adhesion | 65/1882 | 363/18723 | 2.84e-06 | 1.18e-04 | 65 |
GO:00319606 | Liver | NAFLD | response to corticosteroid | 37/1882 | 167/18723 | 3.03e-06 | 1.23e-04 | 37 |
GO:00485115 | Liver | NAFLD | rhythmic process | 56/1882 | 298/18723 | 3.03e-06 | 1.23e-04 | 56 |
GO:19030366 | Liver | NAFLD | positive regulation of response to wounding | 21/1882 | 72/18723 | 4.93e-06 | 1.83e-04 | 21 |
GO:00480247 | Liver | NAFLD | regulation of mRNA splicing, via spliceosome | 26/1882 | 101/18723 | 5.10e-06 | 1.89e-04 | 26 |
GO:00019526 | Liver | NAFLD | regulation of cell-matrix adhesion | 30/1882 | 128/18723 | 7.84e-06 | 2.63e-04 | 30 |
GO:00060666 | Liver | NAFLD | alcohol metabolic process | 62/1882 | 353/18723 | 9.01e-06 | 2.96e-04 | 62 |
GO:0051918 | Liver | NAFLD | negative regulation of fibrinolysis | 7/1882 | 10/18723 | 9.36e-06 | 3.02e-04 | 7 |
GO:00105065 | Liver | NAFLD | regulation of autophagy | 57/1882 | 317/18723 | 1.00e-05 | 3.18e-04 | 57 |
GO:00190587 | Liver | NAFLD | viral life cycle | 57/1882 | 317/18723 | 1.00e-05 | 3.18e-04 | 57 |
GO:00076236 | Liver | NAFLD | circadian rhythm | 42/1882 | 210/18723 | 1.06e-05 | 3.34e-04 | 42 |
GO:00097556 | Liver | NAFLD | hormone-mediated signaling pathway | 39/1882 | 190/18723 | 1.15e-05 | 3.58e-04 | 39 |
GO:19033134 | Liver | NAFLD | positive regulation of mRNA metabolic process | 28/1882 | 118/18723 | 1.21e-05 | 3.70e-04 | 28 |
GO:00458606 | Liver | NAFLD | positive regulation of protein kinase activity | 65/1882 | 386/18723 | 2.22e-05 | 6.13e-04 | 65 |
GO:00329707 | Liver | NAFLD | regulation of actin filament-based process | 66/1882 | 397/18723 | 2.92e-05 | 7.72e-04 | 66 |
GO:0030194 | Liver | NAFLD | positive regulation of blood coagulation | 10/1882 | 23/18723 | 3.44e-05 | 8.81e-04 | 10 |
GO:1900048 | Liver | NAFLD | positive regulation of hemostasis | 10/1882 | 23/18723 | 3.44e-05 | 8.81e-04 | 10 |
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 |
HR | SNV | Missense_Mutation | novel | c.1343N>G | p.Glu448Gly | p.E448G | O43593 | protein_coding | tolerated(0.19) | benign(0.255) | TCGA-LL-A73Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
HR | insertion | Frame_Shift_Ins | novel | c.1160_1161insTTTAAGGA | p.Ser388LeufsTer70 | p.S388Lfs*70 | O43593 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HR | insertion | Nonsense_Mutation | novel | c.1158_1159insGGTGGTTACTAGGTTTCTGTGTA | p.His387GlyfsTer4 | p.H387Gfs*4 | O43593 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HR | SNV | Missense_Mutation | novel | c.1749N>C | p.Glu583Asp | p.E583D | O43593 | protein_coding | tolerated(0.43) | benign(0.321) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HR | SNV | Missense_Mutation | novel | c.1518N>C | p.Glu506Asp | p.E506D | O43593 | protein_coding | tolerated(0.23) | probably_damaging(0.978) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HR | insertion | Nonsense_Mutation | novel | c.3434_3435insAAACTAAACAAAAGGAATA | p.Ser1146AsnfsTer2 | p.S1146Nfs*2 | O43593 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
HR | insertion | Frame_Shift_Ins | novel | c.2809_2810insA | p.Leu937HisfsTer9 | p.L937Hfs*9 | O43593 | protein_coding | | | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
HR | SNV | Missense_Mutation | rs139800068 | c.1694N>A | p.Arg565Gln | p.R565Q | O43593 | protein_coding | tolerated(0.39) | probably_damaging(0.992) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
HR | SNV | Missense_Mutation | | c.170N>T | p.Pro57Leu | p.P57L | O43593 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.997) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
HR | SNV | Missense_Mutation | rs376088952 | c.2060G>A | p.Arg687Gln | p.R687Q | O43593 | protein_coding | deleterious(0.04) | probably_damaging(0.992) | TCGA-AA-3976-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | CR |