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:005071411 | Stomach | CAG with IM | positive regulation of protein secretion | 18/1050 | 137/18723 | 6.54e-04 | 9.14e-03 | 18 |
GO:000167811 | Stomach | CAG with IM | cellular glucose homeostasis | 21/1050 | 172/18723 | 6.55e-04 | 9.14e-03 | 21 |
GO:00326121 | Stomach | CAG with IM | interleukin-1 production | 17/1050 | 128/18723 | 8.07e-04 | 1.08e-02 | 17 |
GO:00326521 | Stomach | CAG with IM | regulation of interleukin-1 production | 17/1050 | 128/18723 | 8.07e-04 | 1.08e-02 | 17 |
GO:005122211 | Stomach | CAG with IM | positive regulation of protein transport | 31/1050 | 303/18723 | 9.21e-04 | 1.19e-02 | 31 |
GO:004343411 | Stomach | CAG with IM | response to peptide hormone | 39/1050 | 414/18723 | 1.09e-03 | 1.33e-02 | 39 |
GO:00326401 | Stomach | CAG with IM | tumor necrosis factor production | 21/1050 | 181/18723 | 1.27e-03 | 1.52e-02 | 21 |
GO:00326801 | Stomach | CAG with IM | regulation of tumor necrosis factor production | 21/1050 | 181/18723 | 1.27e-03 | 1.52e-02 | 21 |
GO:005067311 | Stomach | CAG with IM | epithelial cell proliferation | 40/1050 | 437/18723 | 1.62e-03 | 1.78e-02 | 40 |
GO:00717061 | Stomach | CAG with IM | tumor necrosis factor superfamily cytokine production | 21/1050 | 186/18723 | 1.79e-03 | 1.92e-02 | 21 |
GO:19035551 | Stomach | CAG with IM | regulation of tumor necrosis factor superfamily cytokine production | 21/1050 | 186/18723 | 1.79e-03 | 1.92e-02 | 21 |
GO:001583311 | Stomach | CAG with IM | peptide transport | 27/1050 | 264/18723 | 1.92e-03 | 2.02e-02 | 27 |
GO:00516021 | Stomach | CAG with IM | response to electrical stimulus | 8/1050 | 42/18723 | 2.04e-03 | 2.11e-02 | 8 |
GO:003432911 | Stomach | CAG with IM | cell junction assembly | 38/1050 | 420/18723 | 2.56e-03 | 2.50e-02 | 38 |
GO:000599611 | Stomach | CAG with IM | monosaccharide metabolic process | 26/1050 | 257/18723 | 2.67e-03 | 2.58e-02 | 26 |
GO:0050679 | Stomach | CAG with IM | positive regulation of epithelial cell proliferation | 22/1050 | 207/18723 | 3.02e-03 | 2.83e-02 | 22 |
GO:003007311 | Stomach | CAG with IM | insulin secretion | 21/1050 | 195/18723 | 3.17e-03 | 2.95e-02 | 21 |
GO:001931811 | Stomach | CAG with IM | hexose metabolic process | 24/1050 | 237/18723 | 3.77e-03 | 3.31e-02 | 24 |
GO:003202411 | Stomach | CAG with IM | positive regulation of insulin secretion | 11/1050 | 78/18723 | 4.04e-03 | 3.49e-02 | 11 |
GO:00902576 | Stomach | CAG with IM | regulation of muscle system process | 25/1050 | 252/18723 | 4.12e-03 | 3.54e-02 | 25 |
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 |