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 |
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:00090608 | Breast | Precancer | aerobic respiration | 58/1080 | 189/18723 | 5.69e-27 | 7.62e-24 | 58 |
GO:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
GO:00453338 | Breast | Precancer | cellular respiration | 59/1080 | 230/18723 | 5.97e-23 | 5.32e-20 | 59 |
GO:00159808 | Breast | Precancer | energy derivation by oxidation of organic compounds | 70/1080 | 318/18723 | 8.33e-23 | 6.37e-20 | 70 |
GO:00091179 | Breast | Precancer | nucleotide metabolic process | 56/1080 | 489/18723 | 7.40e-07 | 3.00e-05 | 56 |
GO:00067539 | Breast | Precancer | nucleoside phosphate metabolic process | 56/1080 | 497/18723 | 1.24e-06 | 4.70e-05 | 56 |
GO:00091655 | Breast | Precancer | nucleotide biosynthetic process | 32/1080 | 254/18723 | 2.72e-05 | 6.21e-04 | 32 |
GO:19012935 | Breast | Precancer | nucleoside phosphate biosynthetic process | 32/1080 | 256/18723 | 3.18e-05 | 6.97e-04 | 32 |
GO:00420633 | Breast | Precancer | gliogenesis | 33/1080 | 301/18723 | 3.06e-04 | 4.40e-03 | 33 |
GO:00507086 | Breast | Precancer | regulation of protein secretion | 28/1080 | 268/18723 | 1.76e-03 | 1.74e-02 | 28 |
GO:00716926 | Breast | Precancer | protein localization to extracellular region | 34/1080 | 368/18723 | 4.65e-03 | 3.58e-02 | 34 |
GO:00093067 | Breast | Precancer | protein secretion | 33/1080 | 359/18723 | 5.65e-03 | 4.08e-02 | 33 |
GO:00355927 | Breast | Precancer | establishment of protein localization to extracellular region | 33/1080 | 360/18723 | 5.89e-03 | 4.21e-02 | 33 |
GO:000906013 | Breast | IDC | aerobic respiration | 61/1434 | 189/18723 | 4.42e-23 | 6.27e-20 | 61 |
GO:000609113 | Breast | IDC | generation of precursor metabolites and energy | 103/1434 | 490/18723 | 1.53e-21 | 1.74e-18 | 103 |
GO:004533313 | Breast | IDC | cellular respiration | 62/1434 | 230/18723 | 5.98e-19 | 4.25e-16 | 62 |
GO:001598013 | Breast | IDC | energy derivation by oxidation of organic compounds | 73/1434 | 318/18723 | 8.70e-18 | 3.80e-15 | 73 |
GO:000675313 | Breast | IDC | nucleoside phosphate metabolic process | 68/1434 | 497/18723 | 2.01e-06 | 8.23e-05 | 68 |
GO:000911713 | Breast | IDC | nucleotide metabolic process | 67/1434 | 489/18723 | 2.28e-06 | 9.05e-05 | 67 |
GO:190129313 | Breast | IDC | nucleoside phosphate biosynthetic process | 41/1434 | 256/18723 | 5.15e-06 | 1.73e-04 | 41 |
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 |
IDH2 | SNV | Missense_Mutation | novel | c.430N>A | p.Gly144Arg | p.G144R | P48735 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.985) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
IDH2 | SNV | Missense_Mutation | novel | c.887N>G | p.Gln296Arg | p.Q296R | P48735 | protein_coding | tolerated_low_confidence(0.07) | probably_damaging(0.979) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
IDH2 | SNV | Missense_Mutation | novel | c.845A>C | p.Lys282Thr | p.K282T | P48735 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.829) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
IDH2 | SNV | Missense_Mutation | novel | c.1315G>A | p.Asp439Asn | p.D439N | P48735 | protein_coding | tolerated_low_confidence(0.07) | benign(0.024) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IDH2 | SNV | Missense_Mutation | novel | c.605N>A | p.Ser202Asn | p.S202N | P48735 | protein_coding | tolerated_low_confidence(0.13) | benign(0.003) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IDH2 | SNV | Missense_Mutation | rs372928432 | c.121N>A | p.Asp41Asn | p.D41N | P48735 | protein_coding | tolerated_low_confidence(0.39) | benign(0.001) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IDH2 | SNV | Missense_Mutation | novel | c.220N>T | p.His74Tyr | p.H74Y | P48735 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-EY-A1GO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
IDH2 | SNV | Missense_Mutation | rs762004020 | c.506N>T | p.Thr169Ile | p.T169I | P48735 | protein_coding | tolerated_low_confidence(0.81) | benign(0.394) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IDH2 | SNV | Missense_Mutation | novel | c.465N>C | p.Lys155Asn | p.K155N | P48735 | protein_coding | tolerated_low_confidence(0.07) | benign(0.023) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
IDH2 | insertion | Frame_Shift_Ins | rs780120934 | c.435_436insG | p.Thr146AspfsTer126 | p.T146Dfs*126 | P48735 | protein_coding | | | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | AG-881 | | |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | AGI-6780 | | 23558173 |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | enasidenib | ENASIDENIB | |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | Enasidenib | ENASIDENIB | |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | VENETOCLAX | VENETOCLAX | 30725494 |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | Enasidenib | ENASIDENIB | 28588020,28193778 |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | ENASIDENIB | ENASIDENIB | 28588020,28193778 |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | inhibitor | 404859110 | | |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | Venetoclax | VENETOCLAX | 27520294 |
3418 | IDH2 | CLINICALLY ACTIONABLE, ENZYME | | Venetoclax | VENETOCLAX | |