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:004518525 | Thyroid | HT | maintenance of protein location | 18/1272 | 94/18723 | 5.40e-05 | 1.05e-03 | 18 |
GO:190495127 | Thyroid | HT | positive regulation of establishment of protein localization | 41/1272 | 319/18723 | 6.22e-05 | 1.16e-03 | 41 |
GO:000189418 | Thyroid | HT | tissue homeostasis | 36/1272 | 268/18723 | 6.90e-05 | 1.26e-03 | 36 |
GO:000974625 | Thyroid | HT | response to hexose | 31/1272 | 219/18723 | 8.12e-05 | 1.41e-03 | 31 |
GO:200027824 | Thyroid | HT | regulation of DNA biosynthetic process | 19/1272 | 106/18723 | 8.68e-05 | 1.48e-03 | 19 |
GO:00512718 | Thyroid | HT | negative regulation of cellular component movement | 45/1272 | 367/18723 | 8.73e-05 | 1.48e-03 | 45 |
GO:004343427 | Thyroid | HT | response to peptide hormone | 49/1272 | 414/18723 | 1.05e-04 | 1.75e-03 | 49 |
GO:20001468 | Thyroid | HT | negative regulation of cell motility | 44/1272 | 359/18723 | 1.05e-04 | 1.75e-03 | 44 |
GO:00075659 | Thyroid | HT | female pregnancy | 28/1272 | 193/18723 | 1.15e-04 | 1.87e-03 | 28 |
GO:007121426 | Thyroid | HT | cellular response to abiotic stimulus | 41/1272 | 331/18723 | 1.42e-04 | 2.19e-03 | 41 |
GO:010400426 | Thyroid | HT | cellular response to environmental stimulus | 41/1272 | 331/18723 | 1.42e-04 | 2.19e-03 | 41 |
GO:005122227 | Thyroid | HT | positive regulation of protein transport | 38/1272 | 303/18723 | 1.90e-04 | 2.78e-03 | 38 |
GO:00400138 | Thyroid | HT | negative regulation of locomotion | 46/1272 | 391/18723 | 1.94e-04 | 2.84e-03 | 46 |
GO:00447069 | Thyroid | HT | multi-multicellular organism process | 30/1272 | 220/18723 | 2.06e-04 | 2.99e-03 | 30 |
GO:000974920 | Thyroid | HT | response to glucose | 29/1272 | 212/18723 | 2.47e-04 | 3.45e-03 | 29 |
GO:006104120 | Thyroid | HT | regulation of wound healing | 21/1272 | 134/18723 | 2.73e-04 | 3.75e-03 | 21 |
GO:003432920 | Thyroid | HT | cell junction assembly | 48/1272 | 420/18723 | 2.81e-04 | 3.84e-03 | 48 |
GO:00487385 | Thyroid | HT | cardiac muscle tissue development | 31/1272 | 236/18723 | 3.19e-04 | 4.19e-03 | 31 |
GO:00303368 | Thyroid | HT | negative regulation of cell migration | 41/1272 | 344/18723 | 3.22e-04 | 4.21e-03 | 41 |
GO:000155825 | Thyroid | HT | regulation of cell growth | 47/1272 | 414/18723 | 3.77e-04 | 4.76e-03 | 47 |
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 |