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:00447727 | Prostate | BPH | mitotic cell cycle phase transition | 112/3107 | 424/18723 | 1.57e-07 | 3.58e-06 | 112 |
GO:004887218 | Prostate | BPH | homeostasis of number of cells | 79/3107 | 272/18723 | 1.79e-07 | 3.99e-06 | 79 |
GO:003465515 | Prostate | BPH | nucleobase-containing compound catabolic process | 107/3107 | 407/18723 | 3.79e-07 | 7.89e-06 | 107 |
GO:004348714 | Prostate | BPH | regulation of RNA stability | 54/3107 | 170/18723 | 7.56e-07 | 1.43e-05 | 54 |
GO:00342494 | Prostate | BPH | negative regulation of cellular amide metabolic process | 77/3107 | 273/18723 | 9.10e-07 | 1.67e-05 | 77 |
GO:19033138 | Prostate | BPH | positive regulation of mRNA metabolic process | 41/3107 | 118/18723 | 1.23e-06 | 2.16e-05 | 41 |
GO:00073468 | Prostate | BPH | regulation of mitotic cell cycle | 115/3107 | 457/18723 | 1.52e-06 | 2.62e-05 | 115 |
GO:004670010 | Prostate | BPH | heterocycle catabolic process | 111/3107 | 445/18723 | 3.58e-06 | 5.54e-05 | 111 |
GO:00448435 | Prostate | BPH | cell cycle G1/S phase transition | 68/3107 | 241/18723 | 3.80e-06 | 5.83e-05 | 68 |
GO:00000825 | Prostate | BPH | G1/S transition of mitotic cell cycle | 62/3107 | 214/18723 | 3.93e-06 | 5.97e-05 | 62 |
GO:004427014 | Prostate | BPH | cellular nitrogen compound catabolic process | 112/3107 | 451/18723 | 4.04e-06 | 6.12e-05 | 112 |
GO:00171484 | Prostate | BPH | negative regulation of translation | 68/3107 | 245/18723 | 7.01e-06 | 1.01e-04 | 68 |
GO:001943910 | Prostate | BPH | aromatic compound catabolic process | 113/3107 | 467/18723 | 1.30e-05 | 1.72e-04 | 113 |
GO:19028063 | Prostate | BPH | regulation of cell cycle G1/S phase transition | 50/3107 | 168/18723 | 1.47e-05 | 1.89e-04 | 50 |
GO:20000454 | Prostate | BPH | regulation of G1/S transition of mitotic cell cycle | 44/3107 | 142/18723 | 1.55e-05 | 1.96e-04 | 44 |
GO:190136110 | Prostate | BPH | organic cyclic compound catabolic process | 118/3107 | 495/18723 | 1.75e-05 | 2.17e-04 | 118 |
GO:19019904 | Prostate | BPH | regulation of mitotic cell cycle phase transition | 77/3107 | 299/18723 | 3.36e-05 | 3.77e-04 | 77 |
GO:00610148 | Prostate | BPH | positive regulation of mRNA catabolic process | 30/3107 | 87/18723 | 3.72e-05 | 4.04e-04 | 30 |
GO:00611578 | Prostate | BPH | mRNA destabilization | 29/3107 | 84/18723 | 4.86e-05 | 5.07e-04 | 29 |
GO:00097917 | Prostate | BPH | post-embryonic development | 28/3107 | 80/18723 | 4.93e-05 | 5.11e-04 | 28 |
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 |