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:007259518 | Thyroid | HT | maintenance of protein localization in organelle | 10/1272 | 42/18723 | 4.01e-04 | 4.99e-03 | 10 |
GO:003563318 | Thyroid | HT | maintenance of blood-brain barrier | 9/1272 | 35/18723 | 4.22e-04 | 5.20e-03 | 9 |
GO:19011634 | Thyroid | HT | regulation of trophoblast cell migration | 6/1272 | 16/18723 | 4.30e-04 | 5.27e-03 | 6 |
GO:000166728 | Thyroid | HT | ameboidal-type cell migration | 52/1272 | 475/18723 | 4.54e-04 | 5.53e-03 | 52 |
GO:00614504 | Thyroid | HT | trophoblast cell migration | 6/1272 | 17/18723 | 6.27e-04 | 7.20e-03 | 6 |
GO:005067320 | Thyroid | HT | epithelial cell proliferation | 48/1272 | 437/18723 | 6.86e-04 | 7.77e-03 | 48 |
GO:005067820 | Thyroid | HT | regulation of epithelial cell proliferation | 43/1272 | 381/18723 | 7.38e-04 | 8.23e-03 | 43 |
GO:000961219 | Thyroid | HT | response to mechanical stimulus | 28/1272 | 216/18723 | 7.49e-04 | 8.32e-03 | 28 |
GO:00459269 | Thyroid | HT | negative regulation of growth | 31/1272 | 249/18723 | 8.02e-04 | 8.75e-03 | 31 |
GO:000716328 | Thyroid | HT | establishment or maintenance of cell polarity | 28/1272 | 218/18723 | 8.66e-04 | 9.20e-03 | 28 |
GO:19908455 | Thyroid | HT | adaptive thermogenesis | 22/1272 | 157/18723 | 9.54e-04 | 9.83e-03 | 22 |
GO:000223725 | Thyroid | HT | response to molecule of bacterial origin | 41/1272 | 363/18723 | 9.54e-04 | 9.83e-03 | 41 |
GO:00712608 | Thyroid | HT | cellular response to mechanical stimulus | 14/1272 | 81/18723 | 1.04e-03 | 1.05e-02 | 14 |
GO:003249624 | Thyroid | HT | response to lipopolysaccharide | 39/1272 | 343/18723 | 1.11e-03 | 1.11e-02 | 39 |
GO:004860820 | Thyroid | HT | reproductive structure development | 46/1272 | 424/18723 | 1.14e-03 | 1.13e-02 | 46 |
GO:006145826 | Thyroid | HT | reproductive system development | 46/1272 | 427/18723 | 1.31e-03 | 1.27e-02 | 46 |
GO:005165129 | Thyroid | HT | maintenance of location in cell | 27/1272 | 214/18723 | 1.39e-03 | 1.32e-02 | 27 |
GO:000301210 | Thyroid | HT | muscle system process | 48/1272 | 452/18723 | 1.41e-03 | 1.34e-02 | 48 |
GO:00016595 | Thyroid | HT | temperature homeostasis | 23/1272 | 174/18723 | 1.64e-03 | 1.50e-02 | 23 |
GO:01061067 | Thyroid | HT | cold-induced thermogenesis | 20/1272 | 144/18723 | 1.77e-03 | 1.59e-02 | 20 |
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 |