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:0034655111 | Skin | cSCC | nucleobase-containing compound catabolic process | 172/4864 | 407/18723 | 4.11e-13 | 2.43e-11 | 172 |
GO:000697929 | Skin | cSCC | response to oxidative stress | 184/4864 | 446/18723 | 8.57e-13 | 4.89e-11 | 184 |
GO:0046700110 | Skin | cSCC | heterocycle catabolic process | 178/4864 | 445/18723 | 4.45e-11 | 2.13e-09 | 178 |
GO:0044270110 | Skin | cSCC | cellular nitrogen compound catabolic process | 179/4864 | 451/18723 | 8.34e-11 | 3.79e-09 | 179 |
GO:0019439110 | Skin | cSCC | aromatic compound catabolic process | 183/4864 | 467/18723 | 1.76e-10 | 7.68e-09 | 183 |
GO:1901361110 | Skin | cSCC | organic cyclic compound catabolic process | 188/4864 | 495/18723 | 1.92e-09 | 7.01e-08 | 188 |
GO:000030228 | Skin | cSCC | response to reactive oxygen species | 97/4864 | 222/18723 | 6.88e-09 | 2.25e-07 | 97 |
GO:007149628 | Skin | cSCC | cellular response to external stimulus | 125/4864 | 320/18723 | 1.63e-07 | 3.65e-06 | 125 |
GO:005105217 | Skin | cSCC | regulation of DNA metabolic process | 136/4864 | 359/18723 | 3.83e-07 | 7.58e-06 | 136 |
GO:0019693112 | Skin | cSCC | ribose phosphate metabolic process | 146/4864 | 396/18723 | 9.28e-07 | 1.68e-05 | 146 |
GO:000675324 | Skin | cSCC | nucleoside phosphate metabolic process | 176/4864 | 497/18723 | 1.55e-06 | 2.62e-05 | 176 |
GO:000756827 | Skin | cSCC | aging | 127/4864 | 339/18723 | 1.80e-06 | 3.02e-05 | 127 |
GO:000911724 | Skin | cSCC | nucleotide metabolic process | 173/4864 | 489/18723 | 2.03e-06 | 3.35e-05 | 173 |
GO:0072521112 | Skin | cSCC | purine-containing compound metabolic process | 150/4864 | 416/18723 | 2.88e-06 | 4.54e-05 | 150 |
GO:2001020111 | Skin | cSCC | regulation of response to DNA damage stimulus | 87/4864 | 219/18723 | 5.38e-06 | 7.75e-05 | 87 |
GO:000914126 | Skin | cSCC | nucleoside triphosphate metabolic process | 51/4864 | 112/18723 | 5.89e-06 | 8.44e-05 | 51 |
GO:000914425 | Skin | cSCC | purine nucleoside triphosphate metabolic process | 42/4864 | 88/18723 | 9.13e-06 | 1.20e-04 | 42 |
GO:001827910 | Skin | cSCC | protein N-linked glycosylation via asparagine | 16/4864 | 23/18723 | 1.47e-05 | 1.82e-04 | 16 |
GO:003166825 | Skin | cSCC | cellular response to extracellular stimulus | 94/4864 | 246/18723 | 1.52e-05 | 1.87e-04 | 94 |
GO:00064877 | Skin | cSCC | protein N-linked glycosylation | 33/4864 | 65/18723 | 1.63e-05 | 1.99e-04 | 33 |
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 |
NUDT1 | SNV | Missense_Mutation | rs374666803 | c.205N>A | p.Glu69Lys | p.E69K | P36639 | protein_coding | tolerated(0.2) | possibly_damaging(0.847) | TCGA-AC-A2B8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | chemo | PD |
NUDT1 | SNV | Missense_Mutation | rs746490760 | c.533N>T | p.Thr178Met | p.T178M | P36639 | protein_coding | tolerated(0.08) | benign(0.188) | TCGA-C8-A12V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NUDT1 | insertion | Nonsense_Mutation | novel | c.483_484insCCTGCTCTGCGCCCACCCTAAAATGAGAAACACGGTCATGAGGATGAAATA | p.Lys161_Phe162insProAlaLeuArgProProTerAsnGluLysHisGlyHisGluAspGluIle | p.K161_F162insPALRPP*NEKHGHEDEI | P36639 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
NUDT1 | SNV | Missense_Mutation | | c.190N>C | p.Glu64Gln | p.E64Q | P36639 | protein_coding | tolerated(0.43) | benign(0.255) | TCGA-C5-A1M6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
NUDT1 | SNV | Missense_Mutation | rs747651511 | c.373C>T | p.Arg125Cys | p.R125C | P36639 | protein_coding | tolerated(0.05) | benign(0.073) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
NUDT1 | SNV | Missense_Mutation | novel | c.421N>T | p.Pro141Ser | p.P141S | P36639 | protein_coding | deleterious(0.05) | possibly_damaging(0.834) | TCGA-E6-A1M0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
NUDT1 | SNV | Missense_Mutation | novel | c.466N>G | p.Phe156Val | p.F156V | P36639 | protein_coding | deleterious(0) | benign(0.436) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NUDT1 | SNV | Missense_Mutation | novel | c.124N>A | p.Leu42Ile | p.L42I | P36639 | protein_coding | deleterious(0) | possibly_damaging(0.787) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
NUDT1 | SNV | Missense_Mutation | novel | c.291N>A | p.Phe97Leu | p.F97L | P36639 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
NUDT1 | SNV | Missense_Mutation | rs115556911 | c.367N>A | p.Glu123Lys | p.E123K | P36639 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-44-6779-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | taxol | PD |