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:002290024 | Cervix | N_HPV | electron transport chain | 21/534 | 175/18723 | 2.95e-08 | 3.63e-06 | 21 |
GO:000245621 | Cervix | N_HPV | T cell mediated immunity | 15/534 | 109/18723 | 4.76e-07 | 3.10e-05 | 15 |
GO:000268322 | Cervix | N_HPV | negative regulation of immune system process | 32/534 | 434/18723 | 1.02e-06 | 5.61e-05 | 32 |
GO:000270912 | Cervix | N_HPV | regulation of T cell mediated immunity | 12/534 | 85/18723 | 5.07e-06 | 1.89e-04 | 12 |
GO:005159124 | Cervix | N_HPV | response to cAMP | 12/534 | 93/18723 | 1.31e-05 | 4.24e-04 | 12 |
GO:004668313 | Cervix | N_HPV | response to organophosphorus | 14/534 | 131/18723 | 2.29e-05 | 6.37e-04 | 14 |
GO:009730515 | Cervix | N_HPV | response to alcohol | 20/534 | 253/18723 | 4.14e-05 | 9.81e-04 | 20 |
GO:00026972 | Cervix | N_HPV | regulation of immune effector process | 24/534 | 339/18723 | 4.42e-05 | 1.04e-03 | 24 |
GO:00028192 | Cervix | N_HPV | regulation of adaptive immune response | 16/534 | 183/18723 | 7.36e-05 | 1.59e-03 | 16 |
GO:001407413 | Cervix | N_HPV | response to purine-containing compound | 14/534 | 148/18723 | 8.85e-05 | 1.86e-03 | 14 |
GO:0002703 | Cervix | N_HPV | regulation of leukocyte mediated immunity | 18/534 | 226/18723 | 9.00e-05 | 1.86e-03 | 18 |
GO:00028222 | Cervix | N_HPV | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 15/534 | 168/18723 | 9.68e-05 | 1.97e-03 | 15 |
GO:00026982 | Cervix | N_HPV | negative regulation of immune effector process | 11/534 | 110/18723 | 3.06e-04 | 4.69e-03 | 11 |
GO:0002706 | Cervix | N_HPV | regulation of lymphocyte mediated immunity | 14/534 | 168/18723 | 3.36e-04 | 5.00e-03 | 14 |
GO:007066121 | Cervix | N_HPV | leukocyte proliferation | 21/534 | 318/18723 | 3.38e-04 | 5.01e-03 | 21 |
GO:00507772 | Cervix | N_HPV | negative regulation of immune response | 15/534 | 194/18723 | 4.66e-04 | 6.32e-03 | 15 |
GO:007066321 | Cervix | N_HPV | regulation of leukocyte proliferation | 17/534 | 245/18723 | 6.99e-04 | 8.92e-03 | 17 |
GO:0002707 | Cervix | N_HPV | negative regulation of lymphocyte mediated immunity | 7/534 | 53/18723 | 7.30e-04 | 9.21e-03 | 7 |
GO:005067021 | Cervix | N_HPV | regulation of lymphocyte proliferation | 16/534 | 225/18723 | 7.65e-04 | 9.60e-03 | 16 |
GO:00603482 | Cervix | N_HPV | bone development | 15/534 | 205/18723 | 8.27e-04 | 1.02e-02 | 15 |
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 |