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:00018381 | Colorectum | MSS | embryonic epithelial tube formation | 37/3467 | 121/18723 | 8.95e-04 | 9.13e-03 | 37 |
GO:00328692 | Colorectum | MSS | cellular response to insulin stimulus | 56/3467 | 203/18723 | 9.41e-04 | 9.50e-03 | 56 |
GO:00518651 | Colorectum | MSS | protein autoubiquitination | 25/3467 | 73/18723 | 1.00e-03 | 1.00e-02 | 25 |
GO:00486381 | Colorectum | MSS | regulation of developmental growth | 84/3467 | 330/18723 | 1.01e-03 | 1.01e-02 | 84 |
GO:00719021 | Colorectum | MSS | positive regulation of protein serine/threonine kinase activity | 55/3467 | 200/18723 | 1.12e-03 | 1.11e-02 | 55 |
GO:00713752 | Colorectum | MSS | cellular response to peptide hormone stimulus | 75/3467 | 290/18723 | 1.14e-03 | 1.12e-02 | 75 |
GO:00486391 | Colorectum | MSS | positive regulation of developmental growth | 49/3467 | 174/18723 | 1.17e-03 | 1.13e-02 | 49 |
GO:00459272 | Colorectum | MSS | positive regulation of growth | 68/3467 | 259/18723 | 1.24e-03 | 1.19e-02 | 68 |
GO:00718972 | Colorectum | MSS | DNA biosynthetic process | 50/3467 | 180/18723 | 1.45e-03 | 1.35e-02 | 50 |
GO:00067902 | Colorectum | MSS | sulfur compound metabolic process | 85/3467 | 339/18723 | 1.52e-03 | 1.39e-02 | 85 |
GO:00902572 | Colorectum | MSS | regulation of muscle system process | 66/3467 | 252/18723 | 1.55e-03 | 1.41e-02 | 66 |
GO:00018431 | Colorectum | MSS | neural tube closure | 28/3467 | 88/18723 | 1.87e-03 | 1.64e-02 | 28 |
GO:20003792 | Colorectum | MSS | positive regulation of reactive oxygen species metabolic process | 25/3467 | 76/18723 | 1.91e-03 | 1.66e-02 | 25 |
GO:00343321 | Colorectum | MSS | adherens junction organization | 18/3467 | 49/18723 | 2.03e-03 | 1.74e-02 | 18 |
GO:00219151 | Colorectum | MSS | neural tube development | 43/3467 | 152/18723 | 2.05e-03 | 1.75e-02 | 43 |
GO:00324091 | Colorectum | MSS | regulation of transporter activity | 78/3467 | 310/18723 | 2.09e-03 | 1.78e-02 | 78 |
GO:00328682 | Colorectum | MSS | response to insulin | 68/3467 | 264/18723 | 2.10e-03 | 1.78e-02 | 68 |
GO:00075892 | Colorectum | MSS | body fluid secretion | 29/3467 | 93/18723 | 2.21e-03 | 1.84e-02 | 29 |
GO:00620121 | Colorectum | MSS | regulation of small molecule metabolic process | 83/3467 | 334/18723 | 2.25e-03 | 1.85e-02 | 83 |
GO:00606061 | Colorectum | MSS | tube closure | 28/3467 | 89/18723 | 2.25e-03 | 1.86e-02 | 28 |
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 |