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 |
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:000912311 | Liver | HCC | nucleoside monophosphate metabolic process | 52/7958 | 76/18723 | 4.35e-06 | 5.54e-05 | 52 |
GO:00091612 | Liver | HCC | ribonucleoside monophosphate metabolic process | 41/7958 | 58/18723 | 1.29e-05 | 1.44e-04 | 41 |
GO:007252212 | Liver | HCC | purine-containing compound biosynthetic process | 114/7958 | 200/18723 | 2.36e-05 | 2.49e-04 | 114 |
GO:00461121 | Liver | HCC | nucleobase biosynthetic process | 16/7958 | 18/18723 | 6.21e-05 | 5.68e-04 | 16 |
GO:000616412 | Liver | HCC | purine nucleotide biosynthetic process | 107/7958 | 191/18723 | 1.08e-04 | 9.22e-04 | 107 |
GO:00091241 | Liver | HCC | nucleoside monophosphate biosynthetic process | 29/7958 | 42/18723 | 4.57e-04 | 3.04e-03 | 29 |
GO:000912611 | Liver | HCC | purine nucleoside monophosphate metabolic process | 30/7958 | 44/18723 | 5.12e-04 | 3.33e-03 | 30 |
GO:0042440 | Liver | HCC | pigment metabolic process | 51/7958 | 84/18723 | 5.74e-04 | 3.65e-03 | 51 |
GO:000916711 | Liver | HCC | purine ribonucleoside monophosphate metabolic process | 28/7958 | 41/18723 | 7.54e-04 | 4.55e-03 | 28 |
GO:0009064 | Liver | HCC | glutamine family amino acid metabolic process | 47/7958 | 78/18723 | 1.17e-03 | 6.54e-03 | 47 |
GO:00091561 | Liver | HCC | ribonucleoside monophosphate biosynthetic process | 23/7958 | 33/18723 | 1.46e-03 | 7.75e-03 | 23 |
GO:00091131 | Liver | HCC | purine nucleobase biosynthetic process | 9/7958 | 10/18723 | 2.79e-03 | 1.31e-02 | 9 |
GO:0046148 | Liver | HCC | pigment biosynthetic process | 37/7958 | 62/18723 | 4.73e-03 | 2.02e-02 | 37 |
GO:00061441 | Liver | HCC | purine nucleobase metabolic process | 14/7958 | 19/18723 | 5.94e-03 | 2.44e-02 | 14 |
GO:000675318 | Oral cavity | OSCC | nucleoside phosphate metabolic process | 247/7305 | 497/18723 | 6.28e-07 | 8.96e-06 | 247 |
GO:000911719 | Oral cavity | OSCC | nucleotide metabolic process | 243/7305 | 489/18723 | 7.80e-07 | 1.09e-05 | 243 |
GO:00091233 | Oral cavity | OSCC | nucleoside monophosphate metabolic process | 50/7305 | 76/18723 | 2.04e-06 | 2.62e-05 | 50 |
GO:001969319 | Oral cavity | OSCC | ribose phosphate metabolic process | 199/7305 | 396/18723 | 2.97e-06 | 3.64e-05 | 199 |
GO:000925919 | Oral cavity | OSCC | ribonucleotide metabolic process | 189/7305 | 385/18723 | 3.18e-05 | 2.87e-04 | 189 |
GO:00091614 | Oral cavity | OSCC | ribonucleoside monophosphate metabolic process | 38/7305 | 58/18723 | 3.91e-05 | 3.43e-04 | 38 |
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 |
GMPS | SNV | Missense_Mutation | | c.472G>C | p.Asp158His | p.D158H | P49915 | protein_coding | tolerated(0.05) | benign(0.151) | TCGA-A2-A0CM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | PD |
GMPS | SNV | Missense_Mutation | | c.420N>G | p.Phe140Leu | p.F140L | P49915 | protein_coding | deleterious(0) | possibly_damaging(0.784) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GMPS | SNV | Missense_Mutation | novel | c.207N>G | p.Phe69Leu | p.F69L | P49915 | protein_coding | tolerated(0.13) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GMPS | SNV | Missense_Mutation | | c.1783N>C | p.Ala595Pro | p.A595P | P49915 | protein_coding | deleterious(0.01) | probably_damaging(0.988) | TCGA-D8-A1Y1-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | PD |
GMPS | SNV | Missense_Mutation | novel | c.91C>G | p.Leu31Val | p.L31V | P49915 | protein_coding | deleterious(0) | possibly_damaging(0.857) | TCGA-C5-A2LY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
GMPS | SNV | Missense_Mutation | | c.905N>T | p.Ser302Phe | p.S302F | P49915 | protein_coding | tolerated(0.06) | benign(0.127) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
GMPS | SNV | Missense_Mutation | rs879113982 | c.1913N>A | p.Arg638Gln | p.R638Q | P49915 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
GMPS | SNV | Missense_Mutation | novel | c.380N>C | p.Gly127Ala | p.G127A | P49915 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GMPS | SNV | Missense_Mutation | | c.1711N>T | p.Pro571Ser | p.P571S | P49915 | protein_coding | tolerated(0.27) | benign(0.063) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GMPS | SNV | Missense_Mutation | | c.2059N>A | p.Pro687Thr | p.P687T | P49915 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |