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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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:00460349 | Breast | Precancer | ATP metabolic process | 82/1080 | 277/18723 | 1.94e-36 | 5.19e-33 | 82 |
GO:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
GO:00971939 | Breast | Precancer | intrinsic apoptotic signaling pathway | 59/1080 | 288/18723 | 8.07e-18 | 3.60e-15 | 59 |
GO:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
GO:20012429 | Breast | Precancer | regulation of intrinsic apoptotic signaling pathway | 41/1080 | 164/18723 | 6.48e-16 | 2.31e-13 | 41 |
GO:00067547 | Breast | Precancer | ATP biosynthetic process | 21/1080 | 57/18723 | 2.31e-12 | 4.26e-10 | 21 |
GO:00362939 | Breast | Precancer | response to decreased oxygen levels | 53/1080 | 322/18723 | 4.09e-12 | 6.84e-10 | 53 |
GO:00016669 | Breast | Precancer | response to hypoxia | 51/1080 | 307/18723 | 7.33e-12 | 1.11e-09 | 51 |
GO:00704829 | Breast | Precancer | response to oxygen levels | 55/1080 | 347/18723 | 7.47e-12 | 1.11e-09 | 55 |
GO:00092067 | Breast | Precancer | purine ribonucleoside triphosphate biosynthetic process | 22/1080 | 68/18723 | 1.41e-11 | 1.88e-09 | 22 |
GO:00091457 | Breast | Precancer | purine nucleoside triphosphate biosynthetic process | 22/1080 | 69/18723 | 1.95e-11 | 2.43e-09 | 22 |
GO:00092017 | Breast | Precancer | ribonucleoside triphosphate biosynthetic process | 22/1080 | 74/18723 | 9.18e-11 | 1.00e-08 | 22 |
GO:00091448 | Breast | Precancer | purine nucleoside triphosphate metabolic process | 24/1080 | 88/18723 | 9.66e-11 | 1.03e-08 | 24 |
GO:00092057 | Breast | Precancer | purine ribonucleoside triphosphate metabolic process | 23/1080 | 82/18723 | 1.27e-10 | 1.34e-08 | 23 |
GO:00091427 | Breast | Precancer | nucleoside triphosphate biosynthetic process | 23/1080 | 85/18723 | 2.82e-10 | 2.69e-08 | 23 |
GO:20012349 | Breast | Precancer | negative regulation of apoptotic signaling pathway | 39/1080 | 224/18723 | 5.35e-10 | 4.77e-08 | 39 |
GO:00091997 | Breast | Precancer | ribonucleoside triphosphate metabolic process | 23/1080 | 89/18723 | 7.65e-10 | 6.66e-08 | 23 |
GO:00091418 | Breast | Precancer | nucleoside triphosphate metabolic process | 26/1080 | 112/18723 | 7.72e-10 | 6.66e-08 | 26 |
GO:00362948 | Breast | Precancer | cellular response to decreased oxygen levels | 31/1080 | 161/18723 | 2.61e-09 | 2.11e-07 | 31 |
GO:20012439 | Breast | Precancer | negative regulation of intrinsic apoptotic signaling pathway | 23/1080 | 98/18723 | 5.82e-09 | 4.45e-07 | 23 |
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 |
ENO1 | SNV | Missense_Mutation | | c.689C>A | p.Ala230Asp | p.A230D | P06733 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.988) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
ENO1 | SNV | Missense_Mutation | rs750183904 | c.466N>A | p.Gly156Ser | p.G156S | P06733 | protein_coding | deleterious_low_confidence(0.05) | possibly_damaging(0.594) | TCGA-E9-A22H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ENO1 | insertion | Nonsense_Mutation | novel | c.945_946insATTTTATTTTTATTTTTTTGAGAGGGATCTCACTC | p.Val316IlefsTer7 | p.V316Ifs*7 | P06733 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
ENO1 | SNV | Missense_Mutation | | c.1240G>A | p.Glu414Lys | p.E414K | P06733 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.984) | TCGA-C5-A7CH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unspecific | | SD |
ENO1 | SNV | Missense_Mutation | rs527568599 | c.452N>G | p.Asn151Ser | p.N151S | P06733 | protein_coding | deleterious_low_confidence(0.05) | benign(0.083) | TCGA-EX-A1H6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ENO1 | SNV | Missense_Mutation | novel | c.628N>A | p.Glu210Lys | p.E210K | P06733 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.796) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ENO1 | insertion | Frame_Shift_Ins | novel | c.1081dupC | p.Gln361ProfsTer17 | p.Q361Pfs*17 | P06733 | protein_coding | | | TCGA-C5-A1M7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ENO1 | SNV | Missense_Mutation | novel | c.97G>C | p.Ala33Pro | p.A33P | P06733 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-AA-A01D-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | capecitabine | PD |
ENO1 | SNV | Missense_Mutation | | c.223C>G | p.Pro75Ala | p.P75A | P06733 | protein_coding | deleterious_low_confidence(0.03) | benign(0.046) | TCGA-AD-6965-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | PD |
ENO1 | SNV | Missense_Mutation | | c.1286G>A | p.Arg429Lys | p.R429K | P06733 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.861) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |