Tissue | Expression Dynamics | Abbreviation |
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:0046034 | Colorectum | AD | ATP metabolic process | 142/3918 | 277/18723 | 2.64e-29 | 8.26e-26 | 142 |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0009060 | Colorectum | AD | aerobic respiration | 108/3918 | 189/18723 | 9.14e-28 | 1.43e-24 | 108 |
GO:0045333 | Colorectum | AD | cellular respiration | 119/3918 | 230/18723 | 3.21e-25 | 4.02e-22 | 119 |
GO:0006119 | Colorectum | AD | oxidative phosphorylation | 83/3918 | 141/18723 | 7.95e-23 | 8.30e-20 | 83 |
GO:0015980 | Colorectum | AD | energy derivation by oxidation of organic compounds | 143/3918 | 318/18723 | 2.78e-22 | 2.49e-19 | 143 |
GO:0022900 | Colorectum | AD | electron transport chain | 89/3918 | 175/18723 | 1.42e-18 | 8.91e-16 | 89 |
GO:0019646 | Colorectum | AD | aerobic electron transport chain | 53/3918 | 87/18723 | 5.58e-16 | 2.16e-13 | 53 |
GO:0042773 | Colorectum | AD | ATP synthesis coupled electron transport | 56/3918 | 95/18723 | 6.76e-16 | 2.22e-13 | 56 |
GO:0042775 | Colorectum | AD | mitochondrial ATP synthesis coupled electron transport | 56/3918 | 95/18723 | 6.76e-16 | 2.22e-13 | 56 |
GO:0022904 | Colorectum | AD | respiratory electron transport chain | 63/3918 | 114/18723 | 8.23e-16 | 2.45e-13 | 63 |
GO:0006120 | Colorectum | AD | mitochondrial electron transport, NADH to ubiquinone | 32/3918 | 51/18723 | 1.12e-10 | 1.11e-08 | 32 |
GO:0055076 | Colorectum | AD | transition metal ion homeostasis | 53/3918 | 138/18723 | 1.89e-06 | 5.65e-05 | 53 |
GO:0043467 | Colorectum | AD | regulation of generation of precursor metabolites and energy | 49/3918 | 130/18723 | 8.33e-06 | 1.99e-04 | 49 |
GO:0046916 | Colorectum | AD | cellular transition metal ion homeostasis | 43/3918 | 115/18723 | 3.62e-05 | 6.56e-04 | 43 |
GO:0006790 | Colorectum | AD | sulfur compound metabolic process | 101/3918 | 339/18723 | 6.46e-05 | 1.07e-03 | 101 |
GO:0055072 | Colorectum | AD | iron ion homeostasis | 32/3918 | 85/18723 | 2.97e-04 | 3.60e-03 | 32 |
GO:0043457 | Colorectum | AD | regulation of cellular respiration | 20/3918 | 49/18723 | 1.23e-03 | 1.09e-02 | 20 |
GO:1903715 | Colorectum | AD | regulation of aerobic respiration | 15/3918 | 33/18723 | 1.36e-03 | 1.18e-02 | 15 |
GO:0006879 | Colorectum | AD | cellular iron ion homeostasis | 25/3918 | 67/18723 | 1.51e-03 | 1.27e-02 | 25 |
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 |
ISCU | insertion | Frame_Shift_Ins | novel | c.209_210insACCATTCAAGAGAAAAATCCATTTCCCAGATTCCTCCCCTTTA | p.Asp71ProfsTer15 | p.D71Pfs*15 | Q9H1K1 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ISCU | SNV | Missense_Mutation | | c.214N>A | p.Val72Ile | p.V72I | Q9H1K1 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.88) | TCGA-AA-A017-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ISCU | SNV | Missense_Mutation | novel | c.278T>G | p.Phe93Cys | p.F93C | Q9H1K1 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ISCU | SNV | Missense_Mutation | rs371513074 | c.145N>A | p.Val49Met | p.V49M | Q9H1K1 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.956) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
ISCU | SNV | Missense_Mutation | | c.421N>A | p.Leu141Met | p.L141M | Q9H1K1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ISCU | SNV | Missense_Mutation | novel | c.394N>T | p.Pro132Ser | p.P132S | Q9H1K1 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ISCU | SNV | Missense_Mutation | novel | c.398C>T | p.Pro133Leu | p.P133L | Q9H1K1 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-EC-A24G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ISCU | SNV | Missense_Mutation | novel | c.358N>T | p.Ile120Phe | p.I120F | Q9H1K1 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.981) | TCGA-DD-AAW1-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
ISCU | SNV | Missense_Mutation | | c.241N>A | p.Glu81Lys | p.E81K | Q9H1K1 | protein_coding | tolerated_low_confidence(0.06) | benign(0.052) | TCGA-05-4395-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
ISCU | insertion | In_Frame_Ins | rs763609964 | c.228_228+1insATTCAA | p.Ile77_Gln78dup | p.I77_Q78dup | Q9H1K1 | protein_coding | | | TCGA-CV-7245-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |