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:002290423 | Breast | DCIS | respiratory electron transport chain | 38/1390 | 114/18723 | 7.54e-16 | 2.51e-13 | 38 |
GO:190260022 | Breast | DCIS | proton transmembrane transport | 40/1390 | 157/18723 | 2.77e-12 | 5.80e-10 | 40 |
GO:000612322 | Breast | DCIS | mitochondrial electron transport, cytochrome c to oxygen | 8/1390 | 21/18723 | 7.66e-05 | 1.48e-03 | 8 |
GO:003166723 | Breast | DCIS | response to nutrient levels | 58/1390 | 474/18723 | 1.16e-04 | 2.03e-03 | 58 |
GO:000758422 | Breast | DCIS | response to nutrient | 27/1390 | 174/18723 | 2.05e-04 | 3.28e-03 | 27 |
GO:004603410 | Cervix | CC | ATP metabolic process | 90/2311 | 277/18723 | 7.90e-19 | 2.36e-15 | 90 |
GO:000611910 | Cervix | CC | oxidative phosphorylation | 55/2311 | 141/18723 | 7.12e-16 | 1.42e-12 | 55 |
GO:00090609 | Cervix | CC | aerobic respiration | 60/2311 | 189/18723 | 1.59e-12 | 6.36e-10 | 60 |
GO:00427739 | Cervix | CC | ATP synthesis coupled electron transport | 38/2311 | 95/18723 | 8.45e-12 | 2.66e-09 | 38 |
GO:00427759 | Cervix | CC | mitochondrial ATP synthesis coupled electron transport | 38/2311 | 95/18723 | 8.45e-12 | 2.66e-09 | 38 |
GO:00196469 | Cervix | CC | aerobic electron transport chain | 36/2311 | 87/18723 | 9.15e-12 | 2.74e-09 | 36 |
GO:00229049 | Cervix | CC | respiratory electron transport chain | 42/2311 | 114/18723 | 1.67e-11 | 4.77e-09 | 42 |
GO:00453339 | Cervix | CC | cellular respiration | 66/2311 | 230/18723 | 2.07e-11 | 5.39e-09 | 66 |
GO:00229009 | Cervix | CC | electron transport chain | 53/2311 | 175/18723 | 2.23e-10 | 3.43e-08 | 53 |
GO:00060919 | Cervix | CC | generation of precursor metabolites and energy | 105/2311 | 490/18723 | 7.40e-09 | 6.61e-07 | 105 |
GO:00159809 | Cervix | CC | energy derivation by oxidation of organic compounds | 74/2311 | 318/18723 | 3.83e-08 | 2.53e-06 | 74 |
GO:003166710 | Cervix | CC | response to nutrient levels | 92/2311 | 474/18723 | 5.80e-06 | 1.42e-04 | 92 |
GO:19026009 | Cervix | CC | proton transmembrane transport | 39/2311 | 157/18723 | 1.23e-05 | 2.57e-04 | 39 |
GO:00061239 | Cervix | CC | mitochondrial electron transport, cytochrome c to oxygen | 9/2311 | 21/18723 | 4.77e-04 | 4.69e-03 | 9 |
GO:00075846 | Cervix | CC | response to nutrient | 33/2311 | 174/18723 | 7.65e-03 | 4.07e-02 | 33 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501218 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
hsa0502016 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
hsa0501616 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
hsa0019016 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
hsa0501016 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
hsa0501416 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0520818 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
hsa0493216 | Breast | Precancer | Non-alcoholic fatty liver disease | 48/684 | 155/8465 | 6.16e-17 | 1.50e-15 | 1.15e-15 | 48 |
hsa0426016 | Breast | Precancer | Cardiac muscle contraction | 22/684 | 87/8465 | 9.72e-07 | 1.62e-05 | 1.24e-05 | 22 |
hsa0501219 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
hsa0502017 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
hsa0501617 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
hsa0019017 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
hsa0501017 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
hsa0501417 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0520819 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
hsa0493217 | Breast | Precancer | Non-alcoholic fatty liver disease | 48/684 | 155/8465 | 6.16e-17 | 1.50e-15 | 1.15e-15 | 48 |
hsa0426017 | Breast | Precancer | Cardiac muscle contraction | 22/684 | 87/8465 | 9.72e-07 | 1.62e-05 | 1.24e-05 | 22 |
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 |
COX4I1 | insertion | Frame_Shift_Ins | novel | c.252dupT | p.Lys85Ter | p.K85* | P13073 | protein_coding | | | TCGA-A2-A04Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COX4I1 | insertion | Nonsense_Mutation | novel | c.421_422insTGGACTTCCTAGCCTGAGCTGGGTTTTCATCTCATTTCT | p.Gln141delinsLeuAspPheLeuAlaTerAlaGlyPheSerSerHisPheTer | p.Q141delinsLDFLA*AGFSSHF* | P13073 | protein_coding | | | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
COX4I1 | SNV | Missense_Mutation | rs374125919 | c.248G>A | p.Arg83His | p.R83H | P13073 | protein_coding | tolerated(0.25) | benign(0.011) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
COX4I1 | SNV | Missense_Mutation | | c.53N>G | p.Ser18Cys | p.S18C | P13073 | protein_coding | deleterious(0.03) | probably_damaging(0.997) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
COX4I1 | SNV | Missense_Mutation | rs772180664 | c.343N>A | p.Ala115Thr | p.A115T | P13073 | protein_coding | tolerated(0.06) | benign(0.132) | TCGA-AA-3664-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COX4I1 | SNV | Missense_Mutation | rs201058411 | c.101C>T | p.Ser34Leu | p.S34L | P13073 | protein_coding | deleterious(0.01) | benign(0.029) | TCGA-CK-6746-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COX4I1 | SNV | Missense_Mutation | novel | c.371N>G | p.Tyr124Cys | p.Y124C | P13073 | protein_coding | tolerated(0.06) | probably_damaging(0.929) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
COX4I1 | SNV | Missense_Mutation | | c.340N>G | p.Thr114Ala | p.T114A | P13073 | protein_coding | tolerated(0.09) | benign(0.017) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COX4I1 | SNV | Missense_Mutation | | c.258N>A | p.Phe86Leu | p.F86L | P13073 | protein_coding | deleterious(0.01) | possibly_damaging(0.691) | TCGA-D1-A16F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COX4I1 | SNV | Missense_Mutation | rs761492668 | c.238G>A | p.Glu80Lys | p.E80K | P13073 | protein_coding | tolerated(0.07) | benign(0.199) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |