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:0006325110 | Thyroid | ATC | chromatin organization | 189/6293 | 409/18723 | 6.40e-08 | 1.13e-06 | 189 |
GO:007147927 | Thyroid | ATC | cellular response to ionizing radiation | 46/6293 | 72/18723 | 1.41e-07 | 2.30e-06 | 46 |
GO:0031532111 | Thyroid | ATC | actin cytoskeleton reorganization | 62/6293 | 107/18723 | 2.01e-07 | 3.17e-06 | 62 |
GO:000184119 | Thyroid | ATC | neural tube formation | 59/6293 | 102/18723 | 4.28e-07 | 6.25e-06 | 59 |
GO:007137524 | Thyroid | ATC | cellular response to peptide hormone stimulus | 138/6293 | 290/18723 | 4.90e-07 | 7.05e-06 | 138 |
GO:005140227 | Thyroid | ATC | neuron apoptotic process | 120/6293 | 246/18723 | 5.41e-07 | 7.75e-06 | 120 |
GO:003292223 | Thyroid | ATC | circadian regulation of gene expression | 43/6293 | 68/18723 | 5.45e-07 | 7.79e-06 | 43 |
GO:004851124 | Thyroid | ATC | rhythmic process | 141/6293 | 298/18723 | 5.58e-07 | 7.93e-06 | 141 |
GO:000756924 | Thyroid | ATC | cell aging | 72/6293 | 132/18723 | 5.77e-07 | 8.15e-06 | 72 |
GO:012003414 | Thyroid | ATC | positive regulation of plasma membrane bounded cell projection assembly | 60/6293 | 105/18723 | 6.10e-07 | 8.47e-06 | 60 |
GO:012003223 | Thyroid | ATC | regulation of plasma membrane bounded cell projection assembly | 95/6293 | 186/18723 | 6.13e-07 | 8.49e-06 | 95 |
GO:003109826 | Thyroid | ATC | stress-activated protein kinase signaling cascade | 120/6293 | 247/18723 | 7.06e-07 | 9.46e-06 | 120 |
GO:002191515 | Thyroid | ATC | neural tube development | 80/6293 | 152/18723 | 9.87e-07 | 1.29e-05 | 80 |
GO:0060491111 | Thyroid | ATC | regulation of cell projection assembly | 95/6293 | 188/18723 | 1.14e-06 | 1.47e-05 | 95 |
GO:006034813 | Thyroid | ATC | bone development | 102/6293 | 205/18723 | 1.18e-06 | 1.52e-05 | 102 |
GO:003150316 | Thyroid | ATC | protein-containing complex localization | 108/6293 | 220/18723 | 1.33e-06 | 1.69e-05 | 108 |
GO:005105618 | Thyroid | ATC | regulation of small GTPase mediated signal transduction | 141/6293 | 302/18723 | 1.43e-06 | 1.77e-05 | 141 |
GO:000626013 | Thyroid | ATC | DNA replication | 124/6293 | 260/18723 | 1.58e-06 | 1.93e-05 | 124 |
GO:007189723 | Thyroid | ATC | DNA biosynthetic process | 91/6293 | 180/18723 | 1.84e-06 | 2.24e-05 | 91 |
GO:1903312210 | Thyroid | ATC | negative regulation of mRNA metabolic process | 53/6293 | 92/18723 | 1.93e-06 | 2.32e-05 | 53 |
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 |