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:006024918 | Thyroid | goiters | anatomical structure homeostasis | 18/497 | 314/18723 | 1.92e-03 | 3.31e-02 | 18 |
GO:00158338 | Thyroid | goiters | peptide transport | 16/497 | 264/18723 | 1.93e-03 | 3.31e-02 | 16 |
GO:007169217 | Thyroid | goiters | protein localization to extracellular region | 20/497 | 368/18723 | 2.08e-03 | 3.48e-02 | 20 |
GO:00027905 | Thyroid | goiters | peptide secretion | 15/497 | 242/18723 | 2.12e-03 | 3.53e-02 | 15 |
GO:000189419 | Thyroid | goiters | tissue homeostasis | 16/497 | 268/18723 | 2.24e-03 | 3.70e-02 | 16 |
GO:005122228 | Thyroid | goiters | positive regulation of protein transport | 17/497 | 303/18723 | 3.17e-03 | 4.77e-02 | 17 |
GO:0009896210 | Thyroid | ATC | positive regulation of catabolic process | 290/6293 | 492/18723 | 2.15e-31 | 1.94e-28 | 290 |
GO:004217635 | Thyroid | ATC | regulation of protein catabolic process | 239/6293 | 391/18723 | 2.63e-29 | 1.85e-26 | 239 |
GO:0045732210 | Thyroid | ATC | positive regulation of protein catabolic process | 148/6293 | 231/18723 | 1.93e-21 | 4.36e-19 | 148 |
GO:190495128 | Thyroid | ATC | positive regulation of establishment of protein localization | 177/6293 | 319/18723 | 5.43e-16 | 4.29e-14 | 177 |
GO:005165625 | Thyroid | ATC | establishment of organelle localization | 206/6293 | 390/18723 | 2.62e-15 | 1.84e-13 | 206 |
GO:190285017 | Thyroid | ATC | microtubule cytoskeleton organization involved in mitosis | 95/6293 | 147/18723 | 1.29e-14 | 7.62e-13 | 95 |
GO:001604927 | Thyroid | ATC | cell growth | 241/6293 | 482/18723 | 4.27e-14 | 2.35e-12 | 241 |
GO:005122234 | Thyroid | ATC | positive regulation of protein transport | 165/6293 | 303/18723 | 4.94e-14 | 2.69e-12 | 165 |
GO:004206034 | Thyroid | ATC | wound healing | 210/6293 | 422/18723 | 3.33e-12 | 1.37e-10 | 210 |
GO:005105219 | Thyroid | ATC | regulation of DNA metabolic process | 183/6293 | 359/18723 | 5.97e-12 | 2.30e-10 | 183 |
GO:004518532 | Thyroid | ATC | maintenance of protein location | 64/6293 | 94/18723 | 8.44e-12 | 3.16e-10 | 64 |
GO:000716329 | Thyroid | ATC | establishment or maintenance of cell polarity | 122/6293 | 218/18723 | 8.46e-12 | 3.16e-10 | 122 |
GO:0071496210 | Thyroid | ATC | cellular response to external stimulus | 165/6293 | 320/18723 | 2.01e-11 | 7.23e-10 | 165 |
GO:007097232 | Thyroid | ATC | protein localization to endoplasmic reticulum | 53/6293 | 74/18723 | 2.52e-11 | 8.69e-10 | 53 |
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 |