Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/GJA1_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/GJA1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | ![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/Endometrium/GJA1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/GJA1_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/GJA1_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/GJA1_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/GJA1_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:003235513 | Cervix | HSIL_HPV | response to estradiol | 18/737 | 141/18723 | 1.09e-05 | 3.69e-04 | 18 |
GO:004217615 | Cervix | HSIL_HPV | regulation of protein catabolic process | 34/737 | 391/18723 | 1.41e-05 | 4.41e-04 | 34 |
GO:000756612 | Cervix | HSIL_HPV | embryo implantation | 10/737 | 53/18723 | 3.53e-05 | 9.72e-04 | 10 |
GO:000189414 | Cervix | HSIL_HPV | tissue homeostasis | 25/737 | 268/18723 | 6.17e-05 | 1.46e-03 | 25 |
GO:004573215 | Cervix | HSIL_HPV | positive regulation of protein catabolic process | 22/737 | 231/18723 | 1.24e-04 | 2.49e-03 | 22 |
GO:000961212 | Cervix | HSIL_HPV | response to mechanical stimulus | 21/737 | 216/18723 | 1.31e-04 | 2.61e-03 | 21 |
GO:005067314 | Cervix | HSIL_HPV | epithelial cell proliferation | 34/737 | 437/18723 | 1.31e-04 | 2.61e-03 | 34 |
GO:004329714 | Cervix | HSIL_HPV | apical junction assembly | 11/737 | 78/18723 | 2.29e-04 | 4.03e-03 | 11 |
GO:005067813 | Cervix | HSIL_HPV | regulation of epithelial cell proliferation | 30/737 | 381/18723 | 2.61e-04 | 4.50e-03 | 30 |
GO:190303414 | Cervix | HSIL_HPV | regulation of response to wounding | 17/737 | 167/18723 | 3.26e-04 | 5.23e-03 | 17 |
GO:00030943 | Cervix | HSIL_HPV | glomerular filtration | 6/737 | 25/18723 | 3.40e-04 | 5.39e-03 | 6 |
GO:004860813 | Cervix | HSIL_HPV | reproductive structure development | 32/737 | 424/18723 | 3.52e-04 | 5.54e-03 | 32 |
GO:00614501 | Cervix | HSIL_HPV | trophoblast cell migration | 5/737 | 17/18723 | 3.89e-04 | 6.04e-03 | 5 |
GO:007083013 | Cervix | HSIL_HPV | bicellular tight junction assembly | 10/737 | 70/18723 | 3.94e-04 | 6.10e-03 | 10 |
GO:006145814 | Cervix | HSIL_HPV | reproductive system development | 32/737 | 427/18723 | 3.98e-04 | 6.14e-03 | 32 |
GO:007149615 | Cervix | HSIL_HPV | cellular response to external stimulus | 26/737 | 320/18723 | 4.09e-04 | 6.25e-03 | 26 |
GO:00972054 | Cervix | HSIL_HPV | renal filtration | 6/737 | 26/18723 | 4.27e-04 | 6.41e-03 | 6 |
GO:005123514 | Cervix | HSIL_HPV | maintenance of location | 26/737 | 327/18723 | 5.67e-04 | 8.04e-03 | 26 |
GO:012019213 | Cervix | HSIL_HPV | tight junction assembly | 10/737 | 74/18723 | 6.19e-04 | 8.62e-03 | 10 |
GO:006013512 | Cervix | HSIL_HPV | maternal process involved in female pregnancy | 9/737 | 62/18723 | 6.76e-04 | 9.13e-03 | 9 |
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 |
GJA1 | SNV | Missense_Mutation | | c.380N>G | p.Leu127Trp | p.L127W | P17302 | protein_coding | deleterious(0.02) | possibly_damaging(0.849) | TCGA-A2-A0EO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
GJA1 | SNV | Missense_Mutation | novel | c.359N>C | p.Gly120Ala | p.G120A | P17302 | protein_coding | tolerated(0.11) | benign(0.063) | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | rs774210184 | c.826N>A | p.Ala276Thr | p.A276T | P17302 | protein_coding | tolerated(0.17) | benign(0.432) | TCGA-AC-A7VB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | novel | c.548C>A | p.Ala183Asp | p.A183D | P17302 | protein_coding | deleterious(0) | possibly_damaging(0.765) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | rs759494167 | c.956G>A | p.Arg319Gln | p.R319Q | P17302 | protein_coding | tolerated(0.61) | benign(0.007) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | | c.950N>G | p.Gln317Arg | p.Q317R | P17302 | protein_coding | tolerated(0.25) | possibly_damaging(0.895) | TCGA-AN-A0XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GJA1 | insertion | Frame_Shift_Ins | novel | c.568_569insT | p.Asp190ValfsTer38 | p.D190Vfs*38 | P17302 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA1 | insertion | In_Frame_Ins | novel | c.570_571insATTTCCATACAG | p.Asp190_Pro191insIleSerIleGln | p.D190_P191insISIQ | P17302 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | | c.119C>T | p.Ala40Val | p.A40V | P17302 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GJA1 | SNV | Missense_Mutation | | c.989N>T | p.Ser330Phe | p.S330F | P17302 | protein_coding | deleterious(0) | benign(0.336) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |