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 |
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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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:0007626 | Lung | AIS | locomotory behavior | 31/1849 | 179/18723 | 1.39e-03 | 1.70e-02 | 31 |
GO:00447741 | Lung | AIS | mitotic DNA integrity checkpoint | 18/1849 | 85/18723 | 1.41e-03 | 1.73e-02 | 18 |
GO:000007711 | Lung | AIS | DNA damage checkpoint | 22/1849 | 115/18723 | 1.82e-03 | 2.05e-02 | 22 |
GO:005077912 | Lung | AIS | RNA destabilization | 18/1849 | 88/18723 | 2.13e-03 | 2.30e-02 | 18 |
GO:000189412 | Lung | AIS | tissue homeostasis | 41/1849 | 268/18723 | 3.13e-03 | 3.01e-02 | 41 |
GO:00315701 | Lung | AIS | DNA integrity checkpoint | 22/1849 | 123/18723 | 4.32e-03 | 3.86e-02 | 22 |
GO:000989620 | Oral cavity | OSCC | positive regulation of catabolic process | 307/7305 | 492/18723 | 2.29e-26 | 7.64e-24 | 307 |
GO:003133120 | Oral cavity | OSCC | positive regulation of cellular catabolic process | 273/7305 | 427/18723 | 6.39e-26 | 2.02e-23 | 273 |
GO:190331118 | Oral cavity | OSCC | regulation of mRNA metabolic process | 197/7305 | 288/18723 | 2.83e-24 | 7.16e-22 | 197 |
GO:000640118 | Oral cavity | OSCC | RNA catabolic process | 184/7305 | 278/18723 | 2.71e-20 | 4.19e-18 | 184 |
GO:00447728 | Oral cavity | OSCC | mitotic cell cycle phase transition | 255/7305 | 424/18723 | 5.29e-19 | 6.98e-17 | 255 |
GO:000640218 | Oral cavity | OSCC | mRNA catabolic process | 156/7305 | 232/18723 | 2.13e-18 | 2.37e-16 | 156 |
GO:000641720 | Oral cavity | OSCC | regulation of translation | 274/7305 | 468/18723 | 4.39e-18 | 4.63e-16 | 274 |
GO:003465517 | Oral cavity | OSCC | nucleobase-containing compound catabolic process | 244/7305 | 407/18723 | 5.38e-18 | 5.49e-16 | 244 |
GO:00073469 | Oral cavity | OSCC | regulation of mitotic cell cycle | 266/7305 | 457/18723 | 3.87e-17 | 3.41e-15 | 266 |
GO:004670015 | Oral cavity | OSCC | heterocycle catabolic process | 254/7305 | 445/18723 | 5.07e-15 | 3.31e-13 | 254 |
GO:004427016 | Oral cavity | OSCC | cellular nitrogen compound catabolic process | 256/7305 | 451/18723 | 9.67e-15 | 5.88e-13 | 256 |
GO:001943915 | Oral cavity | OSCC | aromatic compound catabolic process | 263/7305 | 467/18723 | 1.49e-14 | 8.84e-13 | 263 |
GO:190136115 | Oral cavity | OSCC | organic cyclic compound catabolic process | 272/7305 | 495/18723 | 2.73e-13 | 1.36e-11 | 272 |
GO:19033139 | Oral cavity | OSCC | positive regulation of mRNA metabolic process | 82/7305 | 118/18723 | 1.77e-11 | 6.13e-10 | 82 |
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 |
GIGYF2 | SNV | Missense_Mutation | novel | c.2206N>T | p.Asp736Tyr | p.D736Y | Q6Y7W6 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
GIGYF2 | SNV | Missense_Mutation | | c.1021N>A | p.Glu341Lys | p.E341K | Q6Y7W6 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
GIGYF2 | SNV | Missense_Mutation | rs372418931 | c.3059N>T | p.Thr1020Met | p.T1020M | Q6Y7W6 | protein_coding | tolerated(0.46) | benign(0.441) | TCGA-E2-A15C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
GIGYF2 | insertion | Nonsense_Mutation | novel | c.3493_3494insTCTCCTGGGCTGGAATGTAGCTAGGACT | p.His1165LeufsTer7 | p.H1165Lfs*7 | Q6Y7W6 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
GIGYF2 | deletion | Frame_Shift_Del | | c.734delN | p.Ala245ValfsTer56 | p.A245Vfs*56 | Q6Y7W6 | protein_coding | | | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GIGYF2 | SNV | Missense_Mutation | | c.3323N>A | p.Gly1108Glu | p.G1108E | Q6Y7W6 | protein_coding | deleterious(0) | benign(0.015) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
GIGYF2 | SNV | Missense_Mutation | | c.712N>A | p.Glu238Lys | p.E238K | Q6Y7W6 | protein_coding | tolerated(0.1) | possibly_damaging(0.776) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
GIGYF2 | SNV | Missense_Mutation | rs754519471 | c.2402N>A | p.Arg801Gln | p.R801Q | Q6Y7W6 | protein_coding | tolerated(0.26) | benign(0.297) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GIGYF2 | SNV | Missense_Mutation | novel | c.937N>A | p.Glu313Lys | p.E313K | Q6Y7W6 | protein_coding | deleterious(0.01) | possibly_damaging(0.857) | TCGA-ZJ-AB0H-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
GIGYF2 | SNV | Missense_Mutation | | c.2423N>A | p.Arg808Gln | p.R808Q | Q6Y7W6 | protein_coding | deleterious(0.01) | probably_damaging(0.953) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |