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:00603484 | Oral cavity | OSCC | bone development | 99/7305 | 205/18723 | 4.13e-03 | 1.68e-02 | 99 |
GO:00507089 | Oral cavity | OSCC | regulation of protein secretion | 126/7305 | 268/18723 | 4.41e-03 | 1.79e-02 | 126 |
GO:003432916 | Oral cavity | OSCC | cell junction assembly | 190/7305 | 420/18723 | 4.99e-03 | 1.96e-02 | 190 |
GO:00486614 | Oral cavity | OSCC | positive regulation of smooth muscle cell proliferation | 54/7305 | 104/18723 | 5.00e-03 | 1.96e-02 | 54 |
GO:00447067 | Oral cavity | OSCC | multi-multicellular organism process | 105/7305 | 220/18723 | 5.05e-03 | 1.97e-02 | 105 |
GO:00486596 | Oral cavity | OSCC | smooth muscle cell proliferation | 89/7305 | 184/18723 | 5.95e-03 | 2.27e-02 | 89 |
GO:00147067 | Oral cavity | OSCC | striated muscle tissue development | 174/7305 | 384/18723 | 6.45e-03 | 2.40e-02 | 174 |
GO:01061065 | Oral cavity | OSCC | cold-induced thermogenesis | 71/7305 | 144/18723 | 7.51e-03 | 2.75e-02 | 71 |
GO:01201615 | Oral cavity | OSCC | regulation of cold-induced thermogenesis | 71/7305 | 144/18723 | 7.51e-03 | 2.75e-02 | 71 |
GO:00016594 | Oral cavity | OSCC | temperature homeostasis | 84/7305 | 174/18723 | 7.84e-03 | 2.87e-02 | 84 |
GO:00029313 | Oral cavity | OSCC | response to ischemia | 32/7305 | 58/18723 | 9.08e-03 | 3.26e-02 | 32 |
GO:0051294 | Oral cavity | OSCC | establishment of spindle orientation | 22/7305 | 37/18723 | 9.34e-03 | 3.34e-02 | 22 |
GO:00487713 | Oral cavity | OSCC | tissue remodeling | 84/7305 | 175/18723 | 9.39e-03 | 3.36e-02 | 84 |
GO:00516532 | Oral cavity | OSCC | spindle localization | 31/7305 | 56/18723 | 9.53e-03 | 3.39e-02 | 31 |
GO:0040001 | Oral cavity | OSCC | establishment of mitotic spindle localization | 21/7305 | 35/18723 | 9.58e-03 | 3.40e-02 | 21 |
GO:00486606 | Oral cavity | OSCC | regulation of smooth muscle cell proliferation | 86/7305 | 180/18723 | 1.00e-02 | 3.49e-02 | 86 |
GO:19908454 | Oral cavity | OSCC | adaptive thermogenesis | 76/7305 | 157/18723 | 1.02e-02 | 3.52e-02 | 76 |
GO:0032526 | Oral cavity | OSCC | response to retinoic acid | 54/7305 | 107/18723 | 1.04e-02 | 3.54e-02 | 54 |
GO:00330024 | Oral cavity | OSCC | muscle cell proliferation | 115/7305 | 248/18723 | 1.05e-02 | 3.58e-02 | 115 |
GO:00313495 | Oral cavity | OSCC | positive regulation of defense response | 127/7305 | 278/18723 | 1.32e-02 | 4.39e-02 | 127 |
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 |