Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:00102578 | Breast | Precancer | NADH dehydrogenase complex assembly | 19/1080 | 57/18723 | 1.93e-10 | 1.92e-08 | 19 |
GO:00329818 | Breast | Precancer | mitochondrial respiratory chain complex I assembly | 19/1080 | 57/18723 | 1.93e-10 | 1.92e-08 | 19 |
GO:00331088 | Breast | Precancer | mitochondrial respiratory chain complex assembly | 24/1080 | 93/18723 | 3.39e-10 | 3.16e-08 | 24 |
GO:001025713 | Breast | IDC | NADH dehydrogenase complex assembly | 22/1434 | 57/18723 | 6.20e-11 | 8.80e-09 | 22 |
GO:003298113 | Breast | IDC | mitochondrial respiratory chain complex I assembly | 22/1434 | 57/18723 | 6.20e-11 | 8.80e-09 | 22 |
GO:003310813 | Breast | IDC | mitochondrial respiratory chain complex assembly | 28/1434 | 93/18723 | 1.54e-10 | 1.83e-08 | 28 |
GO:001025723 | Breast | DCIS | NADH dehydrogenase complex assembly | 22/1390 | 57/18723 | 3.38e-11 | 5.17e-09 | 22 |
GO:003298123 | Breast | DCIS | mitochondrial respiratory chain complex I assembly | 22/1390 | 57/18723 | 3.38e-11 | 5.17e-09 | 22 |
GO:003310823 | Breast | DCIS | mitochondrial respiratory chain complex assembly | 28/1390 | 93/18723 | 7.50e-11 | 9.43e-09 | 28 |
GO:00102579 | Cervix | CC | NADH dehydrogenase complex assembly | 22/2311 | 57/18723 | 4.28e-07 | 1.67e-05 | 22 |
GO:00329819 | Cervix | CC | mitochondrial respiratory chain complex I assembly | 22/2311 | 57/18723 | 4.28e-07 | 1.67e-05 | 22 |
GO:00331089 | Cervix | CC | mitochondrial respiratory chain complex assembly | 26/2311 | 93/18723 | 3.97e-05 | 6.18e-04 | 26 |
GO:001025714 | Cervix | N_HPV | NADH dehydrogenase complex assembly | 10/534 | 57/18723 | 4.24e-06 | 1.65e-04 | 10 |
GO:003298114 | Cervix | N_HPV | mitochondrial respiratory chain complex I assembly | 10/534 | 57/18723 | 4.24e-06 | 1.65e-04 | 10 |
GO:003310814 | Cervix | N_HPV | mitochondrial respiratory chain complex assembly | 10/534 | 93/18723 | 3.17e-04 | 4.75e-03 | 10 |
GO:0010257 | Colorectum | AD | NADH dehydrogenase complex assembly | 34/3918 | 57/18723 | 2.15e-10 | 1.89e-08 | 34 |
GO:0032981 | Colorectum | AD | mitochondrial respiratory chain complex I assembly | 34/3918 | 57/18723 | 2.15e-10 | 1.89e-08 | 34 |
GO:0033108 | Colorectum | AD | mitochondrial respiratory chain complex assembly | 46/3918 | 93/18723 | 8.95e-10 | 6.91e-08 | 46 |
GO:00102571 | Colorectum | SER | NADH dehydrogenase complex assembly | 30/2897 | 57/18723 | 7.92e-11 | 1.19e-08 | 30 |
GO:00329811 | Colorectum | SER | mitochondrial respiratory chain complex I assembly | 30/2897 | 57/18723 | 7.92e-11 | 1.19e-08 | 30 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0471419 | Breast | Precancer | Thermogenesis | 68/684 | 232/8465 | 4.40e-22 | 1.26e-20 | 9.69e-21 | 68 |
hsa0541519 | Breast | Precancer | Diabetic cardiomyopathy | 63/684 | 203/8465 | 5.63e-22 | 1.48e-20 | 1.14e-20 | 63 |
hsa0493217 | Breast | Precancer | Non-alcoholic fatty liver disease | 48/684 | 155/8465 | 6.16e-17 | 1.50e-15 | 1.15e-15 | 48 |
hsa0472317 | Breast | Precancer | Retrograde endocannabinoid signaling | 25/684 | 148/8465 | 3.05e-04 | 2.47e-03 | 1.89e-03 | 25 |
hsa0501224 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
hsa0502023 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
hsa0501623 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
hsa0019023 | Breast | IDC | Oxidative phosphorylation | 62/867 | 134/8465 | 4.78e-27 | 2.59e-25 | 1.94e-25 | 62 |
hsa0501023 | Breast | IDC | Alzheimer disease | 107/867 | 384/8465 | 1.70e-23 | 7.88e-22 | 5.90e-22 | 107 |
hsa0501423 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
hsa0471424 | Breast | IDC | Thermogenesis | 75/867 | 232/8465 | 8.41e-21 | 3.04e-19 | 2.27e-19 | 75 |
hsa0502223 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0520824 | Breast | IDC | Chemical carcinogenesis - reactive oxygen species | 71/867 | 223/8465 | 2.55e-19 | 7.53e-18 | 5.63e-18 | 71 |
hsa0541523 | Breast | IDC | Diabetic cardiomyopathy | 67/867 | 203/8465 | 3.17e-19 | 8.59e-18 | 6.43e-18 | 67 |
hsa0493223 | Breast | IDC | Non-alcoholic fatty liver disease | 50/867 | 155/8465 | 3.48e-14 | 8.08e-13 | 6.05e-13 | 50 |
hsa0472323 | Breast | IDC | Retrograde endocannabinoid signaling | 31/867 | 148/8465 | 7.62e-05 | 7.50e-04 | 5.61e-04 | 31 |
hsa0501234 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
hsa0502033 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
hsa0501633 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
hsa0019033 | Breast | IDC | Oxidative phosphorylation | 62/867 | 134/8465 | 4.78e-27 | 2.59e-25 | 1.94e-25 | 62 |
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 |
NDUFA11 | SNV | Missense_Mutation | novel | c.170N>C | p.Gly57Ala | p.G57A | Q86Y39 | protein_coding | tolerated_low_confidence(0.29) | probably_damaging(0.998) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NDUFA11 | SNV | Missense_Mutation | novel | c.411G>A | p.Met137Ile | p.M137I | Q86Y39 | protein_coding | tolerated_low_confidence(0.07) | benign(0) | TCGA-VS-A8QM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
NDUFA11 | SNV | Missense_Mutation | | c.221N>T | p.Thr74Ile | p.T74I | Q86Y39 | protein_coding | deleterious_low_confidence(0) | benign(0.153) | TCGA-AZ-5407-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NDUFA11 | SNV | Missense_Mutation | novel | c.643N>T | p.Ile215Leu | p.I215L | Q86Y39 | protein_coding | | benign(0) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
NDUFA11 | deletion | Frame_Shift_Del | novel | c.514delG | p.Ala172HisfsTer21 | p.A172Hfs*21 | Q86Y39 | protein_coding | | | TCGA-AP-A1DH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NDUFA11 | deletion | Frame_Shift_Del | novel | c.514delN | p.Ala172HisfsTer21 | p.A172Hfs*21 | Q86Y39 | protein_coding | | | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
NDUFA11 | insertion | Frame_Shift_Ins | novel | c.514dupG | p.Ala172GlyfsTer256 | p.A172Gfs*256 | Q86Y39 | protein_coding | | | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |