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:0007623111 | Thyroid | PTC | circadian rhythm | 96/5968 | 210/18723 | 1.74e-05 | 1.82e-04 | 96 |
GO:190121518 | Thyroid | PTC | negative regulation of neuron death | 95/5968 | 208/18723 | 2.01e-05 | 2.04e-04 | 95 |
GO:00163318 | Thyroid | PTC | morphogenesis of embryonic epithelium | 71/5968 | 147/18723 | 2.31e-05 | 2.29e-04 | 71 |
GO:0009636111 | Thyroid | PTC | response to toxic substance | 115/5968 | 262/18723 | 2.70e-05 | 2.63e-04 | 115 |
GO:00062606 | Thyroid | PTC | DNA replication | 114/5968 | 260/18723 | 3.09e-05 | 2.95e-04 | 114 |
GO:0001649111 | Thyroid | PTC | osteoblast differentiation | 102/5968 | 229/18723 | 3.66e-05 | 3.40e-04 | 102 |
GO:00066126 | Thyroid | PTC | protein targeting to membrane | 64/5968 | 131/18723 | 3.67e-05 | 3.41e-04 | 64 |
GO:00518659 | Thyroid | PTC | protein autoubiquitination | 40/5968 | 73/18723 | 4.17e-05 | 3.80e-04 | 40 |
GO:00105868 | Thyroid | PTC | miRNA metabolic process | 19/5968 | 27/18723 | 4.57e-05 | 4.11e-04 | 19 |
GO:0071897110 | Thyroid | PTC | DNA biosynthetic process | 82/5968 | 180/18723 | 7.98e-05 | 6.81e-04 | 82 |
GO:00103329 | Thyroid | PTC | response to gamma radiation | 32/5968 | 56/18723 | 8.16e-05 | 6.94e-04 | 32 |
GO:0048026110 | Thyroid | PTC | positive regulation of mRNA splicing, via spliceosome | 16/5968 | 22/18723 | 9.98e-05 | 8.15e-04 | 16 |
GO:000283114 | Thyroid | PTC | regulation of response to biotic stimulus | 136/5968 | 327/18723 | 1.22e-04 | 9.69e-04 | 136 |
GO:20002499 | Thyroid | PTC | regulation of actin cytoskeleton reorganization | 24/5968 | 39/18723 | 1.30e-04 | 1.03e-03 | 24 |
GO:00903986 | Thyroid | PTC | cellular senescence | 47/5968 | 93/18723 | 1.37e-04 | 1.07e-03 | 47 |
GO:00169256 | Thyroid | PTC | protein sumoylation | 30/5968 | 53/18723 | 1.71e-04 | 1.31e-03 | 30 |
GO:19000279 | Thyroid | PTC | regulation of ruffle assembly | 20/5968 | 31/18723 | 1.88e-04 | 1.42e-03 | 20 |
GO:00603486 | Thyroid | PTC | bone development | 90/5968 | 205/18723 | 1.89e-04 | 1.42e-03 | 90 |
GO:0097305113 | Thyroid | PTC | response to alcohol | 107/5968 | 253/18723 | 2.92e-04 | 2.07e-03 | 107 |
GO:00435245 | Thyroid | PTC | negative regulation of neuron apoptotic process | 66/5968 | 145/18723 | 3.88e-04 | 2.61e-03 | 66 |
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 |