Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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 |
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:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
GO:00229008 | Breast | Precancer | electron transport chain | 42/1080 | 175/18723 | 1.37e-15 | 4.59e-13 | 42 |
GO:000609113 | Breast | IDC | generation of precursor metabolites and energy | 103/1434 | 490/18723 | 1.53e-21 | 1.74e-18 | 103 |
GO:002290013 | Breast | IDC | electron transport chain | 51/1434 | 175/18723 | 2.23e-17 | 8.43e-15 | 51 |
GO:000609123 | Breast | DCIS | generation of precursor metabolites and energy | 103/1390 | 490/18723 | 1.46e-22 | 1.65e-19 | 103 |
GO:002290023 | Breast | DCIS | electron transport chain | 51/1390 | 175/18723 | 6.01e-18 | 2.62e-15 | 51 |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0022900 | Colorectum | AD | electron transport chain | 89/3918 | 175/18723 | 1.42e-18 | 8.91e-16 | 89 |
GO:0006066 | Colorectum | AD | alcohol metabolic process | 106/3918 | 353/18723 | 3.02e-05 | 5.57e-04 | 106 |
GO:0034308 | Colorectum | AD | primary alcohol metabolic process | 35/3918 | 102/18723 | 1.16e-03 | 1.05e-02 | 35 |
GO:0006081 | Colorectum | AD | cellular aldehyde metabolic process | 22/3918 | 60/18723 | 3.64e-03 | 2.60e-02 | 22 |
GO:00060911 | Colorectum | SER | generation of precursor metabolites and energy | 168/2897 | 490/18723 | 1.39e-25 | 1.70e-22 | 168 |
GO:00229001 | Colorectum | SER | electron transport chain | 77/2897 | 175/18723 | 1.77e-19 | 1.36e-16 | 77 |
GO:00060661 | Colorectum | SER | alcohol metabolic process | 79/2897 | 353/18723 | 3.50e-04 | 5.50e-03 | 79 |
GO:00343081 | Colorectum | SER | primary alcohol metabolic process | 26/2897 | 102/18723 | 5.87e-03 | 4.29e-02 | 26 |
GO:00060912 | Colorectum | MSS | generation of precursor metabolites and energy | 186/3467 | 490/18723 | 1.14e-24 | 2.15e-21 | 186 |
GO:00229002 | Colorectum | MSS | electron transport chain | 83/3467 | 175/18723 | 2.06e-18 | 1.17e-15 | 83 |
GO:00060662 | Colorectum | MSS | alcohol metabolic process | 92/3467 | 353/18723 | 2.57e-04 | 3.46e-03 | 92 |
GO:00060811 | Colorectum | MSS | cellular aldehyde metabolic process | 21/3467 | 60/18723 | 1.81e-03 | 1.60e-02 | 21 |
GO:00229003 | Colorectum | MSI-H | electron transport chain | 52/1319 | 175/18723 | 1.13e-19 | 5.21e-17 | 52 |
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 |
AKR7A2 | SNV | Missense_Mutation | rs773248892 | c.847G>A | p.Ala283Thr | p.A283T | O43488 | protein_coding | tolerated(0.37) | benign(0.003) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AKR7A2 | SNV | Missense_Mutation | rs775556235 | c.862N>A | p.Ala288Thr | p.A288T | O43488 | protein_coding | tolerated(0.39) | benign(0.003) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AKR7A2 | SNV | Missense_Mutation | rs146046785 | c.358N>T | p.Arg120Trp | p.R120W | O43488 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AKR7A2 | SNV | Missense_Mutation | novel | c.798N>T | p.Lys266Asn | p.K266N | O43488 | protein_coding | tolerated(0.26) | possibly_damaging(0.642) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AKR7A2 | SNV | Missense_Mutation | novel | c.142N>A | p.Gly48Arg | p.G48R | O43488 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-AX-A1C4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AKR7A2 | SNV | Missense_Mutation | rs150666132 | c.472C>T | p.Arg158Trp | p.R158W | O43488 | protein_coding | deleterious(0) | possibly_damaging(0.884) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AKR7A2 | SNV | Missense_Mutation | novel | c.884C>A | p.Ala295Asp | p.A295D | O43488 | protein_coding | deleterious(0) | probably_damaging(0.938) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AKR7A2 | SNV | Missense_Mutation | | c.835G>A | p.Ala279Thr | p.A279T | O43488 | protein_coding | tolerated(0.06) | benign(0.362) | TCGA-D1-A0ZO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AKR7A2 | SNV | Missense_Mutation | | c.1012N>A | p.Ala338Thr | p.A338T | O43488 | protein_coding | tolerated(0.39) | benign(0.007) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AKR7A2 | SNV | Missense_Mutation | novel | c.374N>T | p.Thr125Met | p.T125M | O43488 | protein_coding | deleterious(0.01) | benign(0.098) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |