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/DR1_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/DR1_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/DR1_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/DR1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![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/Thyroid/DR1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00004633 | Oral cavity | OSCC | maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 14/7305 | 15/18723 | 1.79e-05 | 1.74e-04 | 14 |
GO:00062611 | Oral cavity | OSCC | DNA-dependent DNA replication | 84/7305 | 151/18723 | 2.46e-05 | 2.30e-04 | 84 |
GO:00063522 | Oral cavity | OSCC | DNA-templated transcription, initiation | 74/7305 | 130/18723 | 2.56e-05 | 2.39e-04 | 74 |
GO:005067310 | Oral cavity | OSCC | epithelial cell proliferation | 212/7305 | 437/18723 | 2.82e-05 | 2.61e-04 | 212 |
GO:20007573 | Oral cavity | OSCC | negative regulation of peptidyl-lysine acetylation | 17/7305 | 20/18723 | 3.21e-05 | 2.90e-04 | 17 |
GO:0090312 | Oral cavity | OSCC | positive regulation of protein deacetylation | 20/7305 | 25/18723 | 3.47e-05 | 3.11e-04 | 20 |
GO:00350652 | Oral cavity | OSCC | regulation of histone acetylation | 36/7305 | 54/18723 | 3.55e-05 | 3.17e-04 | 36 |
GO:0006270 | Oral cavity | OSCC | DNA replication initiation | 25/7305 | 34/18723 | 4.63e-05 | 3.90e-04 | 25 |
GO:00443196 | Oral cavity | OSCC | wound healing, spreading of cells | 25/7305 | 34/18723 | 4.63e-05 | 3.90e-04 | 25 |
GO:00905056 | Oral cavity | OSCC | epiboly involved in wound healing | 25/7305 | 34/18723 | 4.63e-05 | 3.90e-04 | 25 |
GO:00062753 | Oral cavity | OSCC | regulation of DNA replication | 62/7305 | 107/18723 | 5.49e-05 | 4.54e-04 | 62 |
GO:00020114 | Oral cavity | OSCC | morphogenesis of an epithelial sheet | 37/7305 | 57/18723 | 6.66e-05 | 5.38e-04 | 37 |
GO:00004662 | Oral cavity | OSCC | maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 19/7305 | 24/18723 | 7.18e-05 | 5.67e-04 | 19 |
GO:19019843 | Oral cavity | OSCC | negative regulation of protein acetylation | 19/7305 | 24/18723 | 7.18e-05 | 5.67e-04 | 19 |
GO:00072196 | Oral cavity | OSCC | Notch signaling pathway | 92/7305 | 172/18723 | 7.84e-05 | 6.08e-04 | 92 |
GO:0035067 | Oral cavity | OSCC | negative regulation of histone acetylation | 14/7305 | 16/18723 | 9.15e-05 | 6.93e-04 | 14 |
GO:00905046 | Oral cavity | OSCC | epiboly | 25/7305 | 35/18723 | 1.02e-04 | 7.63e-04 | 25 |
GO:00063672 | Oral cavity | OSCC | transcription initiation from RNA polymerase II promoter | 46/7305 | 77/18723 | 1.82e-04 | 1.24e-03 | 46 |
GO:00182123 | Oral cavity | OSCC | peptidyl-tyrosine modification | 180/7305 | 378/18723 | 3.63e-04 | 2.22e-03 | 180 |
GO:005090010 | Oral cavity | OSCC | leukocyte migration | 176/7305 | 369/18723 | 3.80e-04 | 2.31e-03 | 176 |
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 |
DR1 | SNV | Missense_Mutation | novel | c.25N>A | p.Asp9Asn | p.D9N | Q01658 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
DR1 | SNV | Missense_Mutation | | c.145N>A | p.Leu49Ile | p.L49I | Q01658 | protein_coding | deleterious(0.02) | probably_damaging(0.92) | TCGA-CA-6715-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | CR |
DR1 | SNV | Missense_Mutation | | c.146N>G | p.Leu49Arg | p.L49R | Q01658 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DR1 | SNV | Missense_Mutation | | c.328N>C | p.Asn110His | p.N110H | Q01658 | protein_coding | tolerated(0.08) | benign(0.222) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DR1 | SNV | Missense_Mutation | novel | c.253N>G | p.Ser85Gly | p.S85G | Q01658 | protein_coding | tolerated(0.29) | benign(0.04) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DR1 | SNV | Missense_Mutation | | c.161N>T | p.Ala54Val | p.A54V | Q01658 | protein_coding | deleterious(0.02) | possibly_damaging(0.668) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DR1 | SNV | Missense_Mutation | novel | c.41C>T | p.Pro14Leu | p.P14L | Q01658 | protein_coding | deleterious(0) | possibly_damaging(0.618) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DR1 | SNV | Missense_Mutation | rs182894486 | c.403G>A | p.Glu135Lys | p.E135K | Q01658 | protein_coding | tolerated(0.16) | possibly_damaging(0.522) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
DR1 | SNV | Missense_Mutation | | c.472G>A | p.Ala158Thr | p.A158T | Q01658 | protein_coding | tolerated(0.38) | probably_damaging(0.956) | TCGA-BK-A0C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DR1 | SNV | Missense_Mutation | | c.516N>A | p.Asp172Glu | p.D172E | Q01658 | protein_coding | tolerated_low_confidence(0.32) | benign(0) | TCGA-D1-A176-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |