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:003196018 | Oral cavity | OSCC | response to corticosteroid | 86/7305 | 167/18723 | 6.79e-04 | 3.79e-03 | 86 |
GO:005138418 | Oral cavity | OSCC | response to glucocorticoid | 76/7305 | 148/18723 | 1.49e-03 | 7.15e-03 | 76 |
GO:004521618 | Oral cavity | OSCC | cell-cell junction organization | 97/7305 | 200/18723 | 3.83e-03 | 1.57e-02 | 97 |
GO:003432916 | Oral cavity | OSCC | cell junction assembly | 190/7305 | 420/18723 | 4.99e-03 | 1.96e-02 | 190 |
GO:00447067 | Oral cavity | OSCC | multi-multicellular organism process | 105/7305 | 220/18723 | 5.05e-03 | 1.97e-02 | 105 |
GO:00029313 | Oral cavity | OSCC | response to ischemia | 32/7305 | 58/18723 | 9.08e-03 | 3.26e-02 | 32 |
GO:00715486 | Oral cavity | OSCC | response to dexamethasone | 23/7305 | 39/18723 | 9.09e-03 | 3.26e-02 | 23 |
GO:0032526 | Oral cavity | OSCC | response to retinoic acid | 54/7305 | 107/18723 | 1.04e-02 | 3.54e-02 | 54 |
GO:00713848 | Oral cavity | OSCC | cellular response to corticosteroid stimulus | 33/7305 | 61/18723 | 1.19e-02 | 4.02e-02 | 33 |
GO:00106447 | Oral cavity | OSCC | cell communication by electrical coupling | 19/7305 | 32/18723 | 1.56e-02 | 5.00e-02 | 19 |
GO:0006979110 | Oral cavity | LP | response to oxidative stress | 181/4623 | 446/18723 | 5.74e-14 | 6.10e-12 | 181 |
GO:0062197110 | Oral cavity | LP | cellular response to chemical stress | 130/4623 | 337/18723 | 8.94e-09 | 3.52e-07 | 130 |
GO:0034599110 | Oral cavity | LP | cellular response to oxidative stress | 110/4623 | 288/18723 | 2.19e-07 | 6.65e-06 | 110 |
GO:000756819 | Oral cavity | LP | aging | 125/4623 | 339/18723 | 3.29e-07 | 9.62e-06 | 125 |
GO:1901654110 | Oral cavity | LP | response to ketone | 78/4623 | 194/18723 | 1.24e-06 | 3.03e-05 | 78 |
GO:0048545110 | Oral cavity | LP | response to steroid hormone | 122/4623 | 339/18723 | 1.91e-06 | 4.39e-05 | 122 |
GO:003257015 | Oral cavity | LP | response to progesterone | 21/4623 | 37/18723 | 3.08e-05 | 4.74e-04 | 21 |
GO:0043434110 | Oral cavity | LP | response to peptide hormone | 138/4623 | 414/18723 | 4.00e-05 | 5.87e-04 | 138 |
GO:190165317 | Oral cavity | LP | cellular response to peptide | 122/4623 | 359/18723 | 4.22e-05 | 6.10e-04 | 122 |
GO:000189018 | Oral cavity | LP | placenta development | 56/4623 | 144/18723 | 1.09e-04 | 1.31e-03 | 56 |
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 |