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:002261331 | Stomach | CAG | ribonucleoprotein complex biogenesis | 39/552 | 463/18723 | 4.33e-09 | 6.72e-07 | 39 |
GO:002261831 | Stomach | CAG | ribonucleoprotein complex assembly | 24/552 | 220/18723 | 3.77e-08 | 4.21e-06 | 24 |
GO:007182631 | Stomach | CAG | ribonucleoprotein complex subunit organization | 24/552 | 227/18723 | 6.88e-08 | 7.14e-06 | 24 |
GO:000838021 | Stomach | CAG | RNA splicing | 32/552 | 434/18723 | 2.08e-06 | 1.16e-04 | 32 |
GO:000037721 | Stomach | CAG | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 24/552 | 320/18723 | 2.97e-05 | 1.02e-03 | 24 |
GO:000039821 | Stomach | CAG | mRNA splicing, via spliceosome | 24/552 | 320/18723 | 2.97e-05 | 1.02e-03 | 24 |
GO:000037521 | Stomach | CAG | RNA splicing, via transesterification reactions | 24/552 | 324/18723 | 3.62e-05 | 1.18e-03 | 24 |
GO:002261851 | Stomach | SIM | ribonucleoprotein complex assembly | 27/708 | 220/18723 | 7.53e-08 | 7.11e-06 | 27 |
GO:007182651 | Stomach | SIM | ribonucleoprotein complex subunit organization | 27/708 | 227/18723 | 1.44e-07 | 1.15e-05 | 27 |
GO:002261351 | Stomach | SIM | ribonucleoprotein complex biogenesis | 42/708 | 463/18723 | 1.58e-07 | 1.22e-05 | 42 |
GO:000838041 | Stomach | SIM | RNA splicing | 33/708 | 434/18723 | 1.20e-04 | 2.81e-03 | 33 |
GO:000037741 | Stomach | SIM | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 25/708 | 320/18723 | 5.21e-04 | 8.27e-03 | 25 |
GO:000039841 | Stomach | SIM | mRNA splicing, via spliceosome | 25/708 | 320/18723 | 5.21e-04 | 8.27e-03 | 25 |
GO:000037541 | Stomach | SIM | RNA splicing, via transesterification reactions | 25/708 | 324/18723 | 6.24e-04 | 9.29e-03 | 25 |
GO:000838028 | Thyroid | HT | RNA splicing | 84/1272 | 434/18723 | 1.23e-18 | 1.14e-15 | 84 |
GO:000037527 | Thyroid | HT | RNA splicing, via transesterification reactions | 66/1272 | 324/18723 | 4.86e-16 | 2.08e-13 | 66 |
GO:000037727 | Thyroid | HT | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 65/1272 | 320/18723 | 9.43e-16 | 3.50e-13 | 65 |
GO:000039827 | Thyroid | HT | mRNA splicing, via spliceosome | 65/1272 | 320/18723 | 9.43e-16 | 3.50e-13 | 65 |
GO:002261330 | Thyroid | HT | ribonucleoprotein complex biogenesis | 74/1272 | 463/18723 | 4.05e-12 | 8.05e-10 | 74 |
GO:002261830 | Thyroid | HT | ribonucleoprotein complex assembly | 43/1272 | 220/18723 | 2.57e-10 | 3.25e-08 | 43 |
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 |