Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/GJB2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/GJB2_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/GJB2_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/GJB2_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/GJB2_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:000697910 | Cervix | CC | response to oxidative stress | 102/2311 | 446/18723 | 2.99e-10 | 4.36e-08 | 102 |
GO:00452169 | Cervix | CC | cell-cell junction organization | 53/2311 | 200/18723 | 3.83e-08 | 2.53e-06 | 53 |
GO:006219710 | Cervix | CC | cellular response to chemical stress | 76/2311 | 337/18723 | 1.01e-07 | 5.25e-06 | 76 |
GO:00075689 | Cervix | CC | aging | 75/2311 | 339/18723 | 2.75e-07 | 1.13e-05 | 75 |
GO:00343298 | Cervix | CC | cell junction assembly | 88/2311 | 420/18723 | 3.42e-07 | 1.38e-05 | 88 |
GO:00018908 | Cervix | CC | placenta development | 40/2311 | 144/18723 | 4.59e-07 | 1.77e-05 | 40 |
GO:00022379 | Cervix | CC | response to molecule of bacterial origin | 78/2311 | 363/18723 | 5.55e-07 | 2.06e-05 | 78 |
GO:004854510 | Cervix | CC | response to steroid hormone | 74/2311 | 339/18723 | 5.71e-07 | 2.09e-05 | 74 |
GO:00324969 | Cervix | CC | response to lipopolysaccharide | 74/2311 | 343/18723 | 9.15e-07 | 3.25e-05 | 74 |
GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
GO:00070439 | Cervix | CC | cell-cell junction assembly | 39/2311 | 146/18723 | 1.86e-06 | 5.94e-05 | 39 |
GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
GO:003459910 | Cervix | CC | cellular response to oxidative stress | 63/2311 | 288/18723 | 3.58e-06 | 9.50e-05 | 63 |
GO:190165410 | Cervix | CC | response to ketone | 45/2311 | 194/18723 | 1.83e-05 | 3.44e-04 | 45 |
GO:19016538 | Cervix | CC | cellular response to peptide | 72/2311 | 359/18723 | 1.89e-05 | 3.48e-04 | 72 |
GO:00319609 | Cervix | CC | response to corticosteroid | 39/2311 | 167/18723 | 5.48e-05 | 8.06e-04 | 39 |
GO:00075654 | Cervix | CC | female pregnancy | 43/2311 | 193/18723 | 7.62e-05 | 1.04e-03 | 43 |
GO:00323556 | Cervix | CC | response to estradiol | 34/2311 | 141/18723 | 8.19e-05 | 1.11e-03 | 34 |
GO:00513849 | Cervix | CC | response to glucocorticoid | 35/2311 | 148/18723 | 9.87e-05 | 1.27e-03 | 35 |
GO:00434349 | Cervix | CC | response to peptide hormone | 77/2311 | 414/18723 | 1.40e-04 | 1.70e-03 | 77 |
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 |
GJB2 | SNV | Missense_Mutation | | c.438N>G | p.Phe146Leu | p.F146L | P29033 | protein_coding | tolerated(0.16) | benign(0.187) | TCGA-A1-A0SJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GJB2 | SNV | Missense_Mutation | | c.599G>T | p.Gly200Val | p.G200V | P29033 | protein_coding | tolerated(0.52) | benign(0.044) | TCGA-C8-A275-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GJB2 | SNV | Missense_Mutation | rs80338950 | c.551G>A | p.Arg184Gln | p.R184Q | P29033 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GJB2 | insertion | Frame_Shift_Ins | novel | c.671dupA | p.Pro225AlafsTer32 | p.P225Afs*32 | P29033 | protein_coding | | | TCGA-D5-6927-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
GJB2 | SNV | Missense_Mutation | rs376898963 | c.493N>T | p.Arg165Trp | p.R165W | P29033 | protein_coding | tolerated(0.07) | benign(0.246) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GJB2 | SNV | Missense_Mutation | novel | c.25N>G | p.Ile9Val | p.I9V | P29033 | protein_coding | tolerated(0.24) | benign(0) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
GJB2 | SNV | Missense_Mutation | novel | c.48N>A | p.His16Gln | p.H16Q | P29033 | protein_coding | deleterious(0) | possibly_damaging(0.892) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GJB2 | SNV | Missense_Mutation | rs104894401 | c.428N>A | p.Arg143Gln | p.R143Q | P29033 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-AJ-A3NG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJB2 | SNV | Missense_Mutation | | c.31G>A | p.Gly11Arg | p.G11R | P29033 | protein_coding | deleterious(0.02) | probably_damaging(0.949) | TCGA-AP-A0LT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GJB2 | SNV | Missense_Mutation | | c.450N>A | p.Phe150Leu | p.F150L | P29033 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |