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:00434871 | Colorectum | SER | regulation of RNA stability | 40/2897 | 170/18723 | 3.72e-03 | 3.09e-02 | 40 |
GO:00097911 | Colorectum | SER | post-embryonic development | 22/2897 | 80/18723 | 4.12e-03 | 3.36e-02 | 22 |
GO:19033112 | Colorectum | MSS | regulation of mRNA metabolic process | 115/3467 | 288/18723 | 1.23e-17 | 6.41e-15 | 115 |
GO:00098962 | Colorectum | MSS | positive regulation of catabolic process | 163/3467 | 492/18723 | 3.10e-15 | 9.22e-13 | 163 |
GO:00064012 | Colorectum | MSS | RNA catabolic process | 102/3467 | 278/18723 | 5.07e-13 | 1.02e-10 | 102 |
GO:00313312 | Colorectum | MSS | positive regulation of cellular catabolic process | 140/3467 | 427/18723 | 7.02e-13 | 1.33e-10 | 140 |
GO:00064022 | Colorectum | MSS | mRNA catabolic process | 89/3467 | 232/18723 | 8.70e-13 | 1.60e-10 | 89 |
GO:00442702 | Colorectum | MSS | cellular nitrogen compound catabolic process | 141/3467 | 451/18723 | 2.95e-11 | 3.83e-09 | 141 |
GO:00467002 | Colorectum | MSS | heterocycle catabolic process | 139/3467 | 445/18723 | 4.37e-11 | 5.05e-09 | 139 |
GO:00346552 | Colorectum | MSS | nucleobase-containing compound catabolic process | 129/3467 | 407/18723 | 7.48e-11 | 8.18e-09 | 129 |
GO:00610132 | Colorectum | MSS | regulation of mRNA catabolic process | 66/3467 | 166/18723 | 1.25e-10 | 1.26e-08 | 66 |
GO:19013612 | Colorectum | MSS | organic cyclic compound catabolic process | 148/3467 | 495/18723 | 3.47e-10 | 3.18e-08 | 148 |
GO:00434872 | Colorectum | MSS | regulation of RNA stability | 66/3467 | 170/18723 | 4.14e-10 | 3.49e-08 | 66 |
GO:00434882 | Colorectum | MSS | regulation of mRNA stability | 62/3467 | 158/18723 | 8.41e-10 | 6.81e-08 | 62 |
GO:00194392 | Colorectum | MSS | aromatic compound catabolic process | 140/3467 | 467/18723 | 8.56e-10 | 6.85e-08 | 140 |
GO:00064172 | Colorectum | MSS | regulation of translation | 134/3467 | 468/18723 | 4.43e-08 | 2.38e-06 | 134 |
GO:00488722 | Colorectum | MSS | homeostasis of number of cells | 82/3467 | 272/18723 | 2.02e-06 | 6.28e-05 | 82 |
GO:19033131 | Colorectum | MSS | positive regulation of mRNA metabolic process | 42/3467 | 118/18723 | 8.17e-06 | 2.06e-04 | 42 |
GO:00610141 | Colorectum | MSS | positive regulation of mRNA catabolic process | 32/3467 | 87/18723 | 4.49e-05 | 8.28e-04 | 32 |
GO:00611571 | Colorectum | MSS | mRNA destabilization | 31/3467 | 84/18723 | 5.44e-05 | 9.70e-04 | 31 |
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 |