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:000150310 | Oral cavity | OSCC | ossification | 203/7305 | 408/18723 | 5.54e-06 | 6.19e-05 | 203 |
GO:00028324 | Oral cavity | OSCC | negative regulation of response to biotic stimulus | 65/7305 | 108/18723 | 6.62e-06 | 7.29e-05 | 65 |
GO:00506854 | Oral cavity | OSCC | positive regulation of mRNA processing | 25/7305 | 32/18723 | 7.52e-06 | 8.14e-05 | 25 |
GO:000963618 | Oral cavity | OSCC | response to toxic substance | 137/7305 | 262/18723 | 7.94e-06 | 8.52e-05 | 137 |
GO:003367418 | Oral cavity | OSCC | positive regulation of kinase activity | 228/7305 | 467/18723 | 8.31e-06 | 8.90e-05 | 228 |
GO:19035337 | Oral cavity | OSCC | regulation of protein targeting | 51/7305 | 81/18723 | 1.08e-05 | 1.13e-04 | 51 |
GO:00066123 | Oral cavity | OSCC | protein targeting to membrane | 75/7305 | 131/18723 | 1.72e-05 | 1.69e-04 | 75 |
GO:003011110 | Oral cavity | OSCC | regulation of Wnt signaling pathway | 165/7305 | 328/18723 | 1.87e-05 | 1.80e-04 | 165 |
GO:003134610 | Oral cavity | OSCC | positive regulation of cell projection organization | 176/7305 | 353/18723 | 1.94e-05 | 1.87e-04 | 176 |
GO:00719028 | Oral cavity | OSCC | positive regulation of protein serine/threonine kinase activity | 107/7305 | 200/18723 | 2.12e-05 | 2.02e-04 | 107 |
GO:005067310 | Oral cavity | OSCC | epithelial cell proliferation | 212/7305 | 437/18723 | 2.82e-05 | 2.61e-04 | 212 |
GO:00315298 | Oral cavity | OSCC | ruffle organization | 37/7305 | 56/18723 | 3.74e-05 | 3.32e-04 | 37 |
GO:000184110 | Oral cavity | OSCC | neural tube formation | 60/7305 | 102/18723 | 3.90e-05 | 3.43e-04 | 60 |
GO:00421804 | Oral cavity | OSCC | cellular ketone metabolic process | 111/7305 | 211/18723 | 3.94e-05 | 3.45e-04 | 111 |
GO:000941018 | Oral cavity | OSCC | response to xenobiotic stimulus | 222/7305 | 462/18723 | 4.00e-05 | 3.48e-04 | 222 |
GO:004352310 | Oral cavity | OSCC | regulation of neuron apoptotic process | 111/7305 | 212/18723 | 5.12e-05 | 4.27e-04 | 111 |
GO:006049110 | Oral cavity | OSCC | regulation of cell projection assembly | 100/7305 | 188/18723 | 5.27e-05 | 4.38e-04 | 100 |
GO:000762316 | Oral cavity | OSCC | circadian rhythm | 110/7305 | 210/18723 | 5.40e-05 | 4.48e-04 | 110 |
GO:00062753 | Oral cavity | OSCC | regulation of DNA replication | 62/7305 | 107/18723 | 5.49e-05 | 4.54e-04 | 62 |
GO:00072548 | Oral cavity | OSCC | JNK cascade | 90/7305 | 167/18723 | 6.49e-05 | 5.26e-04 | 90 |
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 |