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 |
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:0009206 | Colorectum | AD | purine ribonucleoside triphosphate biosynthetic process | 33/3918 | 68/18723 | 3.68e-07 | 1.43e-05 | 33 |
GO:0042776 | Colorectum | AD | mitochondrial ATP synthesis coupled proton transport | 14/3918 | 19/18723 | 1.20e-06 | 3.92e-05 | 14 |
GO:0009201 | Colorectum | AD | ribonucleoside triphosphate biosynthetic process | 34/3918 | 74/18723 | 1.23e-06 | 4.01e-05 | 34 |
GO:0009260 | Colorectum | AD | ribonucleotide biosynthetic process | 66/3918 | 182/18723 | 1.25e-06 | 4.02e-05 | 66 |
GO:0009142 | Colorectum | AD | nucleoside triphosphate biosynthetic process | 37/3918 | 85/18723 | 2.16e-06 | 6.35e-05 | 37 |
GO:0046390 | Colorectum | AD | ribose phosphate biosynthetic process | 67/3918 | 190/18723 | 3.21e-06 | 9.05e-05 | 67 |
GO:0006164 | Colorectum | AD | purine nucleotide biosynthetic process | 66/3918 | 191/18723 | 8.22e-06 | 1.97e-04 | 66 |
GO:0072522 | Colorectum | AD | purine-containing compound biosynthetic process | 68/3918 | 200/18723 | 1.12e-05 | 2.55e-04 | 68 |
GO:1901293 | Colorectum | AD | nucleoside phosphate biosynthetic process | 80/3918 | 256/18723 | 6.31e-05 | 1.05e-03 | 80 |
GO:0009165 | Colorectum | AD | nucleotide biosynthetic process | 79/3918 | 254/18723 | 8.33e-05 | 1.30e-03 | 79 |
GO:0051881 | Colorectum | AD | regulation of mitochondrial membrane potential | 29/3918 | 74/18723 | 2.54e-04 | 3.20e-03 | 29 |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
GO:0010876 | Colorectum | AD | lipid localization | 120/3918 | 448/18723 | 1.59e-03 | 1.33e-02 | 120 |
GO:0006851 | Colorectum | AD | mitochondrial calcium ion transmembrane transport | 10/3918 | 20/18723 | 3.67e-03 | 2.60e-02 | 10 |
GO:0006650 | Colorectum | AD | glycerophospholipid metabolic process | 83/3918 | 306/18723 | 5.40e-03 | 3.55e-02 | 83 |
GO:0006644 | Colorectum | AD | phospholipid metabolic process | 101/3918 | 383/18723 | 5.80e-03 | 3.67e-02 | 101 |
GO:0016485 | Colorectum | AD | protein processing | 63/3918 | 225/18723 | 6.77e-03 | 4.19e-02 | 63 |
GO:0048284 | Colorectum | AD | organelle fusion | 42/3918 | 141/18723 | 8.04e-03 | 4.73e-02 | 42 |
GO:00090601 | Colorectum | SER | aerobic respiration | 96/2897 | 189/18723 | 5.53e-30 | 1.70e-26 | 96 |
GO:00460341 | Colorectum | SER | ATP metabolic process | 117/2897 | 277/18723 | 5.54e-27 | 1.13e-23 | 117 |
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 |
STOML2 | insertion | In_Frame_Ins | novel | c.869_870insTGGGGA | p.Ala290_Lys291insGlyAsp | p.A290_K291insGD | Q9UJZ1 | protein_coding | | | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
STOML2 | insertion | In_Frame_Ins | novel | c.868_869insAGCTGGGCTTGGCCAGGGAGT | p.Ala290delinsGluLeuGlyLeuAlaArgGluSer | p.A290delinsELGLARES | Q9UJZ1 | protein_coding | | | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
STOML2 | SNV | Missense_Mutation | rs763483882 | c.215G>A | p.Arg72Gln | p.R72Q | Q9UJZ1 | protein_coding | tolerated(0.09) | benign(0.094) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
STOML2 | SNV | Missense_Mutation | rs753222022 | c.511N>T | p.Arg171Cys | p.R171C | Q9UJZ1 | protein_coding | deleterious(0.01) | possibly_damaging(0.892) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
STOML2 | SNV | Missense_Mutation | rs201944176 | c.776G>A | p.Arg259Gln | p.R259Q | Q9UJZ1 | protein_coding | tolerated(0.48) | benign(0.003) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
STOML2 | SNV | Missense_Mutation | | c.1062G>T | p.Lys354Asn | p.K354N | Q9UJZ1 | protein_coding | deleterious_low_confidence(0.01) | benign(0.003) | TCGA-G4-6303-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fu | PD |
STOML2 | SNV | Missense_Mutation | | c.445N>A | p.Glu149Lys | p.E149K | Q9UJZ1 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | PD |
STOML2 | SNV | Missense_Mutation | novel | c.628N>T | p.Thr210Ser | p.T210S | Q9UJZ1 | protein_coding | tolerated(0.36) | benign(0.098) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
STOML2 | SNV | Missense_Mutation | rs781632715 | c.512N>A | p.Arg171His | p.R171H | Q9UJZ1 | protein_coding | tolerated(0.1) | possibly_damaging(0.806) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
STOML2 | SNV | Missense_Mutation | rs201944176 | c.776N>A | p.Arg259Gln | p.R259Q | Q9UJZ1 | protein_coding | tolerated(0.48) | benign(0.003) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |