Tissue | Expression Dynamics | Abbreviation |
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/RPE_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/RPE_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/RPE_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/RPE_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:002261332 | Liver | Cyst | ribonucleoprotein complex biogenesis | 45/496 | 463/18723 | 5.09e-14 | 2.17e-11 | 45 |
GO:007182632 | Liver | Cyst | ribonucleoprotein complex subunit organization | 28/496 | 227/18723 | 1.35e-11 | 4.12e-09 | 28 |
GO:002261832 | Liver | Cyst | ribonucleoprotein complex assembly | 27/496 | 220/18723 | 3.54e-11 | 9.46e-09 | 27 |
GO:000037732 | Liver | Cyst | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 26/496 | 320/18723 | 4.57e-07 | 4.77e-05 | 26 |
GO:000039832 | Liver | Cyst | mRNA splicing, via spliceosome | 26/496 | 320/18723 | 4.57e-07 | 4.77e-05 | 26 |
GO:000037532 | Liver | Cyst | RNA splicing, via transesterification reactions | 26/496 | 324/18723 | 5.80e-07 | 5.76e-05 | 26 |
GO:000838032 | Liver | Cyst | RNA splicing | 31/496 | 434/18723 | 6.22e-07 | 6.04e-05 | 31 |
GO:002261320 | Oral cavity | OSCC | ribonucleoprotein complex biogenesis | 333/7305 | 463/18723 | 8.28e-48 | 5.24e-44 | 333 |
GO:000838020 | Oral cavity | OSCC | RNA splicing | 308/7305 | 434/18723 | 2.43e-42 | 7.70e-39 | 308 |
GO:007259418 | Oral cavity | OSCC | establishment of protein localization to organelle | 284/7305 | 422/18723 | 1.50e-32 | 1.35e-29 | 284 |
GO:000037519 | Oral cavity | OSCC | RNA splicing, via transesterification reactions | 225/7305 | 324/18723 | 5.20e-29 | 2.99e-26 | 225 |
GO:000037719 | Oral cavity | OSCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 221/7305 | 320/18723 | 5.50e-28 | 2.18e-25 | 221 |
GO:000039819 | Oral cavity | OSCC | mRNA splicing, via spliceosome | 221/7305 | 320/18723 | 5.50e-28 | 2.18e-25 | 221 |
GO:000645718 | Oral cavity | OSCC | protein folding | 154/7305 | 212/18723 | 1.89e-23 | 4.60e-21 | 154 |
GO:000660520 | Oral cavity | OSCC | protein targeting | 204/7305 | 314/18723 | 6.78e-21 | 1.13e-18 | 204 |
GO:000609118 | Oral cavity | OSCC | generation of precursor metabolites and energy | 286/7305 | 490/18723 | 1.45e-18 | 1.71e-16 | 286 |
GO:007182620 | Oral cavity | OSCC | ribonucleoprotein complex subunit organization | 152/7305 | 227/18723 | 1.05e-17 | 1.01e-15 | 152 |
GO:002261820 | Oral cavity | OSCC | ribonucleoprotein complex assembly | 146/7305 | 220/18723 | 1.53e-16 | 1.23e-14 | 146 |
GO:000683918 | Oral cavity | OSCC | mitochondrial transport | 162/7305 | 254/18723 | 8.96e-16 | 6.52e-14 | 162 |
GO:001703815 | Oral cavity | OSCC | protein import | 136/7305 | 206/18723 | 3.15e-15 | 2.08e-13 | 136 |
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 |
RPE | insertion | Nonsense_Mutation | novel | c.393_394insTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCA | p.Trp131_Ala132insPhePhePheTerAspGlyValSerLeuCysArgPro | p.W131_A132insFFF*DGVSLCRP | Q96AT9 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
RPE | SNV | Missense_Mutation | rs535548466 | c.326N>A | p.Arg109Gln | p.R109Q | Q96AT9 | protein_coding | tolerated(0.17) | benign(0.096) | TCGA-VS-A9UM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RPE | SNV | Missense_Mutation | rs138496299 | c.325C>T | p.Arg109Trp | p.R109W | Q96AT9 | protein_coding | deleterious(0.01) | benign(0.291) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
RPE | SNV | Missense_Mutation | | c.559N>A | p.Ala187Thr | p.A187T | Q96AT9 | protein_coding | deleterious(0.02) | probably_damaging(0.954) | TCGA-AA-A02Y-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
RPE | SNV | Missense_Mutation | novel | c.173N>A | p.Arg58Gln | p.R58Q | Q96AT9 | protein_coding | deleterious(0.02) | possibly_damaging(0.882) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
RPE | SNV | Missense_Mutation | novel | c.173N>A | p.Arg58Gln | p.R58Q | Q96AT9 | protein_coding | deleterious(0.02) | possibly_damaging(0.882) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RPE | SNV | Missense_Mutation | novel | c.647N>C | p.Val216Ala | p.V216A | Q96AT9 | protein_coding | tolerated(1) | benign(0.001) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RPE | SNV | Missense_Mutation | novel | c.173N>A | p.Arg58Gln | p.R58Q | Q96AT9 | protein_coding | deleterious(0.02) | possibly_damaging(0.882) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPE | SNV | Missense_Mutation | | c.596N>A | p.Ala199Asp | p.A199D | Q96AT9 | protein_coding | deleterious(0) | probably_damaging(0.909) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RPE | SNV | Missense_Mutation | novel | c.215T>C | p.Met72Thr | p.M72T | Q96AT9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |