Tissue | Expression Dynamics | Abbreviation |
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/TMEM126A_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/TMEM126A_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/TMEM126A_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/TMEM126A_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/TMEM126A_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:0033108110 | Esophagus | ESCC | mitochondrial respiratory chain complex assembly | 83/8552 | 93/18723 | 9.56e-19 | 1.05e-16 | 83 |
GO:0010257110 | Esophagus | ESCC | NADH dehydrogenase complex assembly | 50/8552 | 57/18723 | 3.78e-11 | 1.24e-09 | 50 |
GO:0032981110 | Esophagus | ESCC | mitochondrial respiratory chain complex I assembly | 50/8552 | 57/18723 | 3.78e-11 | 1.24e-09 | 50 |
GO:00331087 | Liver | Cirrhotic | mitochondrial respiratory chain complex assembly | 64/4634 | 93/18723 | 3.85e-19 | 7.79e-17 | 64 |
GO:00102577 | Liver | Cirrhotic | NADH dehydrogenase complex assembly | 42/4634 | 57/18723 | 1.06e-14 | 1.06e-12 | 42 |
GO:00329817 | Liver | Cirrhotic | mitochondrial respiratory chain complex I assembly | 42/4634 | 57/18723 | 1.06e-14 | 1.06e-12 | 42 |
GO:003310812 | Liver | HCC | mitochondrial respiratory chain complex assembly | 80/7958 | 93/18723 | 3.47e-18 | 4.15e-16 | 80 |
GO:001025712 | Liver | HCC | NADH dehydrogenase complex assembly | 50/7958 | 57/18723 | 1.50e-12 | 7.20e-11 | 50 |
GO:003298112 | Liver | HCC | mitochondrial respiratory chain complex I assembly | 50/7958 | 57/18723 | 1.50e-12 | 7.20e-11 | 50 |
GO:003310818 | Oral cavity | OSCC | mitochondrial respiratory chain complex assembly | 75/7305 | 93/18723 | 2.17e-16 | 1.68e-14 | 75 |
GO:001025718 | Oral cavity | OSCC | NADH dehydrogenase complex assembly | 45/7305 | 57/18723 | 8.53e-10 | 2.13e-08 | 45 |
GO:003298118 | Oral cavity | OSCC | mitochondrial respiratory chain complex I assembly | 45/7305 | 57/18723 | 8.53e-10 | 2.13e-08 | 45 |
GO:003310819 | Oral cavity | LP | mitochondrial respiratory chain complex assembly | 63/4623 | 93/18723 | 2.24e-18 | 4.13e-16 | 63 |
GO:001025719 | Oral cavity | LP | NADH dehydrogenase complex assembly | 41/4623 | 57/18723 | 7.93e-14 | 7.89e-12 | 41 |
GO:003298119 | Oral cavity | LP | mitochondrial respiratory chain complex I assembly | 41/4623 | 57/18723 | 7.93e-14 | 7.89e-12 | 41 |
GO:003310824 | Skin | cSCC | mitochondrial respiratory chain complex assembly | 64/4864 | 93/18723 | 5.48e-18 | 6.58e-16 | 64 |
GO:001025724 | Skin | cSCC | NADH dehydrogenase complex assembly | 42/4864 | 57/18723 | 6.46e-14 | 4.09e-12 | 42 |
GO:003298124 | Skin | cSCC | mitochondrial respiratory chain complex I assembly | 42/4864 | 57/18723 | 6.46e-14 | 4.09e-12 | 42 |
GO:0033108111 | Thyroid | PTC | mitochondrial respiratory chain complex assembly | 65/5968 | 93/18723 | 5.60e-14 | 3.21e-12 | 65 |
GO:0010257111 | Thyroid | PTC | NADH dehydrogenase complex assembly | 43/5968 | 57/18723 | 1.73e-11 | 6.81e-10 | 43 |
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 |
TMEM126A | SNV | Missense_Mutation | | c.151N>C | p.Asn51His | p.N51H | Q9H061 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
TMEM126A | SNV | Missense_Mutation | novel | c.273N>T | p.Leu91Phe | p.L91F | Q9H061 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM126A | SNV | Missense_Mutation | rs765038408 | c.409N>G | p.Leu137Val | p.L137V | Q9H061 | protein_coding | tolerated(0.62) | benign(0.007) | TCGA-C5-A905-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM126A | SNV | Missense_Mutation | | c.9N>G | p.Asn3Lys | p.N3K | Q9H061 | protein_coding | deleterious(0.01) | benign(0.11) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TMEM126A | SNV | Missense_Mutation | | c.218N>T | p.Gly73Val | p.G73V | Q9H061 | protein_coding | tolerated(1) | benign(0) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM126A | insertion | Nonsense_Mutation | novel | c.390_391insAACATGATTTAAAGAAT | p.Ala131AsnfsTer4 | p.A131Nfs*4 | Q9H061 | protein_coding | | | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM126A | SNV | Missense_Mutation | novel | c.514N>C | p.Tyr172His | p.Y172H | Q9H061 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-A5-A0GR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM126A | SNV | Missense_Mutation | novel | c.188N>A | p.Ala63Asp | p.A63D | Q9H061 | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM126A | SNV | Missense_Mutation | rs377476349 | c.190N>T | p.Arg64Cys | p.R64C | Q9H061 | protein_coding | tolerated(0.11) | possibly_damaging(0.828) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMEM126A | SNV | Missense_Mutation | novel | c.514T>C | p.Tyr172His | p.Y172H | Q9H061 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-AX-A0IZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |