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:19016553 | Lung | IAC | cellular response to ketone | 20/2061 | 96/18723 | 3.58e-03 | 3.00e-02 | 20 |
GO:00303233 | Lung | IAC | respiratory tube development | 32/2061 | 181/18723 | 4.63e-03 | 3.65e-02 | 32 |
GO:00721755 | Lung | IAC | epithelial tube formation | 25/2061 | 132/18723 | 4.69e-03 | 3.68e-02 | 25 |
GO:00009565 | Lung | IAC | nuclear-transcribed mRNA catabolic process | 22/2061 | 112/18723 | 4.92e-03 | 3.78e-02 | 22 |
GO:000989613 | Lung | AIS | positive regulation of catabolic process | 103/1849 | 492/18723 | 9.59e-14 | 1.86e-10 | 103 |
GO:004348413 | Lung | AIS | regulation of RNA splicing | 45/1849 | 148/18723 | 2.75e-12 | 2.67e-09 | 45 |
GO:003133113 | Lung | AIS | positive regulation of cellular catabolic process | 89/1849 | 427/18723 | 6.12e-12 | 4.46e-09 | 89 |
GO:000701513 | Lung | AIS | actin filament organization | 88/1849 | 442/18723 | 1.02e-10 | 3.13e-08 | 88 |
GO:004802413 | Lung | AIS | regulation of mRNA splicing, via spliceosome | 32/1849 | 101/18723 | 1.20e-09 | 2.42e-07 | 32 |
GO:002260413 | Lung | AIS | regulation of cell morphogenesis | 65/1849 | 309/18723 | 2.97e-09 | 5.09e-07 | 65 |
GO:190331112 | Lung | AIS | regulation of mRNA metabolic process | 60/1849 | 288/18723 | 1.74e-08 | 2.47e-06 | 60 |
GO:004851112 | Lung | AIS | rhythmic process | 61/1849 | 298/18723 | 2.63e-08 | 3.40e-06 | 61 |
GO:005068412 | Lung | AIS | regulation of mRNA processing | 36/1849 | 137/18723 | 3.06e-08 | 3.79e-06 | 36 |
GO:000206413 | Lung | AIS | epithelial cell development | 48/1849 | 220/18723 | 1.06e-07 | 1.18e-05 | 48 |
GO:000762313 | Lung | AIS | circadian rhythm | 46/1849 | 210/18723 | 1.71e-07 | 1.72e-05 | 46 |
GO:003052213 | Lung | AIS | intracellular receptor signaling pathway | 53/1849 | 265/18723 | 4.57e-07 | 3.55e-05 | 53 |
GO:003292211 | Lung | AIS | circadian regulation of gene expression | 21/1849 | 68/18723 | 1.33e-06 | 8.53e-05 | 21 |
GO:000038112 | Lung | AIS | regulation of alternative mRNA splicing, via spliceosome | 19/1849 | 60/18723 | 2.77e-06 | 1.52e-04 | 19 |
GO:003133013 | Lung | AIS | negative regulation of cellular catabolic process | 50/1849 | 262/18723 | 3.94e-06 | 2.05e-04 | 50 |
GO:000038012 | Lung | AIS | alternative mRNA splicing, via spliceosome | 21/1849 | 77/18723 | 1.19e-05 | 4.71e-04 | 21 |
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 |