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 |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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:0006401 | Colorectum | AD | RNA catabolic process | 102/3918 | 278/18723 | 8.64e-10 | 6.76e-08 | 102 |
GO:0044270 | Colorectum | AD | cellular nitrogen compound catabolic process | 147/3918 | 451/18723 | 3.35e-09 | 2.23e-07 | 147 |
GO:0046700 | Colorectum | AD | heterocycle catabolic process | 145/3918 | 445/18723 | 4.37e-09 | 2.84e-07 | 145 |
GO:0006402 | Colorectum | AD | mRNA catabolic process | 87/3918 | 232/18723 | 4.40e-09 | 2.84e-07 | 87 |
GO:0034655 | Colorectum | AD | nucleobase-containing compound catabolic process | 133/3918 | 407/18723 | 1.56e-08 | 9.12e-07 | 133 |
GO:0019439 | Colorectum | AD | aromatic compound catabolic process | 146/3918 | 467/18723 | 7.48e-08 | 3.84e-06 | 146 |
GO:1901361 | Colorectum | AD | organic cyclic compound catabolic process | 153/3918 | 495/18723 | 8.23e-08 | 4.18e-06 | 153 |
GO:0000956 | Colorectum | AD | nuclear-transcribed mRNA catabolic process | 40/3918 | 112/18723 | 2.11e-04 | 2.79e-03 | 40 |
GO:00064012 | Colorectum | MSS | RNA catabolic process | 102/3467 | 278/18723 | 5.07e-13 | 1.02e-10 | 102 |
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:19013612 | Colorectum | MSS | organic cyclic compound catabolic process | 148/3467 | 495/18723 | 3.47e-10 | 3.18e-08 | 148 |
GO:00194392 | Colorectum | MSS | aromatic compound catabolic process | 140/3467 | 467/18723 | 8.56e-10 | 6.85e-08 | 140 |
GO:00009561 | Colorectum | MSS | nuclear-transcribed mRNA catabolic process | 42/3467 | 112/18723 | 1.75e-06 | 5.60e-05 | 42 |
GO:0000184 | Colorectum | MSS | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 15/3467 | 37/18723 | 1.51e-03 | 1.39e-02 | 15 |
GO:0006401110 | Esophagus | ESCC | RNA catabolic process | 204/8552 | 278/18723 | 3.39e-21 | 5.66e-19 | 204 |
GO:0034655110 | Esophagus | ESCC | nucleobase-containing compound catabolic process | 272/8552 | 407/18723 | 2.92e-18 | 2.90e-16 | 272 |
GO:0006402110 | Esophagus | ESCC | mRNA catabolic process | 170/8552 | 232/18723 | 8.70e-18 | 8.00e-16 | 170 |
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 |
HELZ2 | SNV | Missense_Mutation | rs202204982 | c.6862N>T | p.Arg2288Trp | p.R2288W | Q9BYK8 | protein_coding | deleterious(0.01) | probably_damaging(0.965) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
HELZ2 | SNV | Missense_Mutation | novel | c.5110N>C | p.Asp1704His | p.D1704H | Q9BYK8 | protein_coding | deleterious(0) | possibly_damaging(0.767) | TCGA-AJ-A3BI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | paclitaxel | CR |
HELZ2 | SNV | Missense_Mutation | novel | c.6679N>A | p.Asp2227Asn | p.D2227N | Q9BYK8 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
HELZ2 | SNV | Missense_Mutation | novel | c.6106N>A | p.Asp2036Asn | p.D2036N | Q9BYK8 | protein_coding | tolerated(0.06) | probably_damaging(0.948) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
HELZ2 | SNV | Missense_Mutation | novel | c.7784N>G | p.Asn2595Ser | p.N2595S | Q9BYK8 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HELZ2 | SNV | Missense_Mutation | rs745338681 | c.3817N>T | p.Arg1273Trp | p.R1273W | Q9BYK8 | protein_coding | deleterious(0.03) | possibly_damaging(0.719) | TCGA-AJ-A3OK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
HELZ2 | SNV | Missense_Mutation | rs151312101 | c.1549C>T | p.Arg517Cys | p.R517C | Q9BYK8 | protein_coding | tolerated(0.06) | benign(0.024) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HELZ2 | SNV | Missense_Mutation | | c.7162N>T | p.Asp2388Tyr | p.D2388Y | Q9BYK8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
HELZ2 | SNV | Missense_Mutation | | c.1021N>G | p.Asn341Asp | p.N341D | Q9BYK8 | protein_coding | tolerated(0.06) | probably_damaging(0.922) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
HELZ2 | SNV | Missense_Mutation | | c.7369N>A | p.Leu2457Met | p.L2457M | Q9BYK8 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |