Tissue | Expression Dynamics | Abbreviation |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003166722 | Liver | HCC | response to nutrient levels | 276/7958 | 474/18723 | 2.30e-12 | 1.08e-10 | 276 |
GO:001082112 | Liver | HCC | regulation of mitochondrion organization | 96/7958 | 144/18723 | 3.82e-09 | 1.02e-07 | 96 |
GO:005160412 | Liver | HCC | protein maturation | 171/7958 | 294/18723 | 3.80e-08 | 8.30e-07 | 171 |
GO:200011612 | Liver | HCC | regulation of cysteine-type endopeptidase activity | 137/7958 | 235/18723 | 6.91e-07 | 1.08e-05 | 137 |
GO:005254722 | Liver | HCC | regulation of peptidase activity | 247/7958 | 461/18723 | 8.28e-07 | 1.27e-05 | 247 |
GO:000863712 | Liver | HCC | apoptotic mitochondrial changes | 70/7958 | 107/18723 | 1.39e-06 | 2.01e-05 | 70 |
GO:005254822 | Liver | HCC | regulation of endopeptidase activity | 230/7958 | 432/18723 | 3.58e-06 | 4.68e-05 | 230 |
GO:001082211 | Liver | HCC | positive regulation of mitochondrion organization | 48/7958 | 74/18723 | 8.50e-05 | 7.46e-04 | 48 |
GO:001095212 | Liver | HCC | positive regulation of peptidase activity | 110/7958 | 197/18723 | 1.04e-04 | 8.98e-04 | 110 |
GO:000183612 | Liver | HCC | release of cytochrome c from mitochondria | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:001648511 | Liver | HCC | protein processing | 121/7958 | 225/18723 | 4.01e-04 | 2.71e-03 | 121 |
GO:000863011 | Liver | HCC | intrinsic apoptotic signaling pathway in response to DNA damage | 58/7958 | 99/18723 | 8.97e-04 | 5.29e-03 | 58 |
GO:00316382 | Liver | HCC | zymogen activation | 38/7958 | 60/18723 | 9.06e-04 | 5.33e-03 | 38 |
GO:0038183 | Liver | HCC | bile acid signaling pathway | 12/7958 | 14/18723 | 1.17e-03 | 6.54e-03 | 12 |
GO:00901995 | Liver | HCC | regulation of release of cytochrome c from mitochondria | 31/7958 | 48/18723 | 1.66e-03 | 8.71e-03 | 31 |
GO:001095012 | Liver | HCC | positive regulation of endopeptidase activity | 96/7958 | 179/18723 | 1.68e-03 | 8.79e-03 | 96 |
GO:200105612 | Liver | HCC | positive regulation of cysteine-type endopeptidase activity | 79/7958 | 148/18723 | 4.82e-03 | 2.03e-02 | 79 |
GO:0097194 | Liver | HCC | execution phase of apoptosis | 48/7958 | 85/18723 | 6.47e-03 | 2.63e-02 | 48 |
GO:009719320 | Oral cavity | OSCC | intrinsic apoptotic signaling pathway | 202/7305 | 288/18723 | 4.64e-27 | 1.73e-24 | 202 |
GO:004586220 | Oral cavity | OSCC | positive regulation of proteolysis | 236/7305 | 372/18723 | 6.53e-22 | 1.38e-19 | 236 |
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 |
CIDEB | insertion | Frame_Shift_Ins | novel | c.233_234insATGGAGTGCTAACCCTGGTGCTAGA | p.Glu79TrpfsTer17 | p.E79Wfs*17 | Q9UHD4 | protein_coding | | | TCGA-A2-A1G4-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | adriamycin | SD |
CIDEB | SNV | Missense_Mutation | novel | c.369N>C | p.Glu123Asp | p.E123D | Q9UHD4 | protein_coding | tolerated(0.34) | benign(0.005) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CIDEB | SNV | Missense_Mutation | | c.482N>G | p.Ser161Cys | p.S161C | Q9UHD4 | protein_coding | deleterious(0) | possibly_damaging(0.75) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CIDEB | SNV | Missense_Mutation | | c.208N>T | p.Asn70Tyr | p.N70Y | Q9UHD4 | protein_coding | deleterious(0.03) | benign(0) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CIDEB | SNV | Missense_Mutation | novel | c.639N>T | p.Lys213Asn | p.K213N | Q9UHD4 | protein_coding | tolerated(0.13) | benign(0.001) | TCGA-A5-A2K7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
CIDEB | SNV | Missense_Mutation | | c.66N>C | p.Glu22Asp | p.E22D | Q9UHD4 | protein_coding | tolerated(0.44) | benign(0) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CIDEB | SNV | Missense_Mutation | rs146066890 | c.644N>A | p.Arg215His | p.R215H | Q9UHD4 | protein_coding | tolerated(0.07) | benign(0.001) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
CIDEB | SNV | Missense_Mutation | rs368449983 | c.539G>A | p.Arg180His | p.R180H | Q9UHD4 | protein_coding | deleterious(0.01) | benign(0.007) | TCGA-B5-A11U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CIDEB | SNV | Missense_Mutation | novel | c.436N>T | p.Leu146Phe | p.L146F | Q9UHD4 | protein_coding | tolerated(0.89) | possibly_damaging(0.548) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CIDEB | SNV | Missense_Mutation | novel | c.400N>C | p.Phe134Leu | p.F134L | Q9UHD4 | protein_coding | tolerated(0.17) | benign(0) | TCGA-FV-A3R3-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |