Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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:00091177 | Liver | NAFLD | nucleotide metabolic process | 85/1882 | 489/18723 | 3.31e-07 | 2.18e-05 | 85 |
GO:00067537 | Liver | NAFLD | nucleoside phosphate metabolic process | 85/1882 | 497/18723 | 6.69e-07 | 3.83e-05 | 85 |
GO:00091857 | Liver | NAFLD | ribonucleoside diphosphate metabolic process | 28/1882 | 106/18723 | 1.29e-06 | 6.02e-05 | 28 |
GO:00091327 | Liver | NAFLD | nucleoside diphosphate metabolic process | 28/1882 | 124/18723 | 3.22e-05 | 8.40e-04 | 28 |
GO:00160526 | Liver | NAFLD | carbohydrate catabolic process | 32/1882 | 154/18723 | 5.29e-05 | 1.21e-03 | 32 |
GO:00063255 | Liver | NAFLD | chromatin organization | 64/1882 | 409/18723 | 2.31e-04 | 3.89e-03 | 64 |
GO:00460347 | Liver | NAFLD | ATP metabolic process | 46/1882 | 277/18723 | 4.55e-04 | 6.69e-03 | 46 |
GO:0046434 | Liver | NAFLD | organophosphate catabolic process | 27/1882 | 155/18723 | 3.21e-03 | 2.86e-02 | 27 |
GO:004603412 | Liver | Cirrhotic | ATP metabolic process | 144/4634 | 277/18723 | 1.04e-22 | 5.02e-20 | 144 |
GO:190136111 | Liver | Cirrhotic | organic cyclic compound catabolic process | 213/4634 | 495/18723 | 1.58e-19 | 3.67e-17 | 213 |
GO:001943911 | Liver | Cirrhotic | aromatic compound catabolic process | 202/4634 | 467/18723 | 6.93e-19 | 1.28e-16 | 202 |
GO:004427011 | Liver | Cirrhotic | cellular nitrogen compound catabolic process | 195/4634 | 451/18723 | 2.99e-18 | 4.94e-16 | 195 |
GO:004670011 | Liver | Cirrhotic | heterocycle catabolic process | 192/4634 | 445/18723 | 7.17e-18 | 1.12e-15 | 192 |
GO:003465511 | Liver | Cirrhotic | nucleobase-containing compound catabolic process | 171/4634 | 407/18723 | 9.07e-15 | 9.33e-13 | 171 |
GO:000675312 | Liver | Cirrhotic | nucleoside phosphate metabolic process | 190/4634 | 497/18723 | 1.10e-11 | 6.96e-10 | 190 |
GO:000911712 | Liver | Cirrhotic | nucleotide metabolic process | 187/4634 | 489/18723 | 1.55e-11 | 9.63e-10 | 187 |
GO:004428211 | Liver | Cirrhotic | small molecule catabolic process | 151/4634 | 376/18723 | 2.20e-11 | 1.34e-09 | 151 |
GO:001969312 | Liver | Cirrhotic | ribose phosphate metabolic process | 156/4634 | 396/18723 | 5.83e-11 | 3.23e-09 | 156 |
GO:000599612 | Liver | Cirrhotic | monosaccharide metabolic process | 104/4634 | 257/18723 | 1.74e-08 | 6.32e-07 | 104 |
GO:000918512 | Liver | Cirrhotic | ribonucleoside diphosphate metabolic process | 52/4634 | 106/18723 | 5.24e-08 | 1.63e-06 | 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 |
NUDT5 | SNV | Missense_Mutation | | c.307N>A | p.Glu103Lys | p.E103K | Q9UKK9 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
NUDT5 | insertion | Frame_Shift_Ins | novel | c.202_203insACCCTGCCGTCTCCAGCCTTTTGAGTAATTGCCC | p.Leu68HisfsTer19 | p.L68Hfs*19 | Q9UKK9 | protein_coding | | | TCGA-AN-A0FV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NUDT5 | deletion | Frame_Shift_Del | novel | c.490delG | p.Asp164MetfsTer23 | p.D164Mfs*23 | Q9UKK9 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
NUDT5 | SNV | Missense_Mutation | | c.439N>G | p.Thr147Ala | p.T147A | Q9UKK9 | protein_coding | tolerated(0.61) | benign(0.017) | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NUDT5 | SNV | Missense_Mutation | rs755821025 | c.151N>T | p.Arg51Cys | p.R51C | Q9UKK9 | protein_coding | deleterious(0) | probably_damaging(0.965) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NUDT5 | SNV | Missense_Mutation | novel | c.611N>G | p.Leu204Arg | p.L204R | Q9UKK9 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NUDT5 | SNV | Missense_Mutation | | c.472N>A | p.Pro158Thr | p.P158T | Q9UKK9 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NUDT5 | SNV | Missense_Mutation | novel | c.626N>A | p.Ala209Glu | p.A209E | Q9UKK9 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
NUDT5 | SNV | Missense_Mutation | novel | c.116C>T | p.Pro39Leu | p.P39L | Q9UKK9 | protein_coding | deleterious(0) | possibly_damaging(0.8) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NUDT5 | SNV | Missense_Mutation | rs755821025 | c.151N>T | p.Arg51Cys | p.R51C | Q9UKK9 | protein_coding | deleterious(0) | probably_damaging(0.965) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |