Tissue | Expression Dynamics | Abbreviation |
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 |
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:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
GO:190280613 | Esophagus | ESCC | regulation of cell cycle G1/S phase transition | 95/8552 | 168/18723 | 2.91e-03 | 1.22e-02 | 95 |
GO:000680917 | Esophagus | ESCC | nitric oxide biosynthetic process | 47/8552 | 76/18723 | 3.29e-03 | 1.35e-02 | 47 |
GO:200105717 | Esophagus | ESCC | reactive nitrogen species metabolic process | 50/8552 | 82/18723 | 3.76e-03 | 1.53e-02 | 50 |
GO:004620917 | Esophagus | ESCC | nitric oxide metabolic process | 49/8552 | 81/18723 | 5.11e-03 | 1.93e-02 | 49 |
GO:00215436 | Esophagus | ESCC | pallium development | 94/8552 | 169/18723 | 5.79e-03 | 2.14e-02 | 94 |
GO:001063120 | Esophagus | ESCC | epithelial cell migration | 187/8552 | 357/18723 | 6.05e-03 | 2.23e-02 | 187 |
GO:00331355 | Esophagus | ESCC | regulation of peptidyl-serine phosphorylation | 81/8552 | 144/18723 | 6.79e-03 | 2.48e-02 | 81 |
GO:009013220 | Esophagus | ESCC | epithelium migration | 188/8552 | 360/18723 | 6.96e-03 | 2.54e-02 | 188 |
GO:009013020 | Esophagus | ESCC | tissue migration | 190/8552 | 365/18723 | 7.91e-03 | 2.82e-02 | 190 |
GO:00331383 | Esophagus | ESCC | positive regulation of peptidyl-serine phosphorylation | 61/8552 | 108/18723 | 1.54e-02 | 4.96e-02 | 61 |
GO:00463953 | Liver | NAFLD | carboxylic acid catabolic process | 73/1882 | 236/18723 | 4.16e-19 | 1.22e-15 | 73 |
GO:00160544 | Liver | NAFLD | organic acid catabolic process | 73/1882 | 240/18723 | 1.20e-18 | 2.34e-15 | 73 |
GO:00442825 | Liver | NAFLD | small molecule catabolic process | 91/1882 | 376/18723 | 8.96e-16 | 1.31e-12 | 91 |
GO:00160535 | Liver | NAFLD | organic acid biosynthetic process | 77/1882 | 316/18723 | 1.03e-13 | 6.69e-11 | 77 |
GO:00463945 | Liver | NAFLD | carboxylic acid biosynthetic process | 75/1882 | 314/18723 | 6.37e-13 | 3.39e-10 | 75 |
GO:0009063 | Liver | NAFLD | cellular amino acid catabolic process | 36/1882 | 110/18723 | 6.56e-11 | 1.99e-08 | 36 |
GO:00065203 | Liver | NAFLD | cellular amino acid metabolic process | 63/1882 | 284/18723 | 1.14e-09 | 2.17e-07 | 63 |
GO:00086523 | Liver | NAFLD | cellular amino acid biosynthetic process | 26/1882 | 76/18723 | 1.00e-08 | 1.33e-06 | 26 |
GO:00098957 | Liver | NAFLD | negative regulation of catabolic process | 65/1882 | 320/18723 | 2.50e-08 | 2.71e-06 | 65 |
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 |
ATP2B4 | SNV | Missense_Mutation | novel | c.2582N>C | p.Gly861Ala | p.G861A | P23634 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ATP2B4 | SNV | Missense_Mutation | novel | c.1003N>A | p.Glu335Lys | p.E335K | P23634 | protein_coding | tolerated(0.1) | benign(0.093) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ATP2B4 | SNV | Missense_Mutation | | c.587G>C | p.Gly196Ala | p.G196A | P23634 | protein_coding | deleterious(0.04) | possibly_damaging(0.682) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ATP2B4 | SNV | Missense_Mutation | | c.691G>A | p.Asp231Asn | p.D231N | P23634 | protein_coding | tolerated(0.08) | possibly_damaging(0.763) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ATP2B4 | SNV | Missense_Mutation | | c.922G>A | p.Glu308Lys | p.E308K | P23634 | protein_coding | tolerated(0.37) | benign(0.105) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ATP2B4 | SNV | Missense_Mutation | novel | c.2966N>T | p.Ser989Leu | p.S989L | P23634 | protein_coding | deleterious(0.03) | benign(0.116) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
ATP2B4 | SNV | Missense_Mutation | rs373440876 | c.2506N>A | p.Val836Ile | p.V836I | P23634 | protein_coding | deleterious(0.03) | possibly_damaging(0.845) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP2B4 | SNV | Missense_Mutation | | c.2644N>G | p.Met882Val | p.M882V | P23634 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
ATP2B4 | SNV | Missense_Mutation | | c.2023N>T | p.Arg675Cys | p.R675C | P23634 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A1R7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | fareston | SD |
ATP2B4 | SNV | Missense_Mutation | rs762956558 | c.1592T>G | p.Val531Gly | p.V531G | P23634 | protein_coding | deleterious(0) | possibly_damaging(0.732) | TCGA-EW-A1PH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |