GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001049826 | Esophagus | HGIN | proteasomal protein catabolic process | 139/2587 | 490/18723 | 1.20e-17 | 3.41e-15 | 139 |
GO:004316126 | Esophagus | HGIN | proteasome-mediated ubiquitin-dependent protein catabolic process | 114/2587 | 412/18723 | 7.00e-14 | 1.20e-11 | 114 |
GO:003497625 | Esophagus | HGIN | response to endoplasmic reticulum stress | 81/2587 | 256/18723 | 1.47e-13 | 2.32e-11 | 81 |
GO:000697927 | Esophagus | HGIN | response to oxidative stress | 107/2587 | 446/18723 | 3.91e-09 | 2.76e-07 | 107 |
GO:006219727 | Esophagus | HGIN | cellular response to chemical stress | 76/2587 | 337/18723 | 8.00e-06 | 2.41e-04 | 76 |
GO:003459926 | Esophagus | HGIN | cellular response to oxidative stress | 65/2587 | 288/18723 | 3.42e-05 | 8.66e-04 | 65 |
GO:000030226 | Esophagus | HGIN | response to reactive oxygen species | 52/2587 | 222/18723 | 7.30e-05 | 1.66e-03 | 52 |
GO:004254220 | Esophagus | HGIN | response to hydrogen peroxide | 35/2587 | 146/18723 | 6.58e-04 | 9.01e-03 | 35 |
GO:00365036 | Esophagus | HGIN | ERAD pathway | 27/2587 | 107/18723 | 1.15e-03 | 1.39e-02 | 27 |
GO:00304335 | Esophagus | HGIN | ubiquitin-dependent ERAD pathway | 22/2587 | 85/18723 | 2.24e-03 | 2.31e-02 | 22 |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
GO:0062197111 | Esophagus | ESCC | cellular response to chemical stress | 234/8552 | 337/18723 | 5.37e-19 | 5.97e-17 | 234 |
GO:0034599111 | Esophagus | ESCC | cellular response to oxidative stress | 197/8552 | 288/18723 | 3.76e-15 | 2.15e-13 | 197 |
GO:0000302111 | Esophagus | ESCC | response to reactive oxygen species | 150/8552 | 222/18723 | 3.06e-11 | 1.02e-09 | 150 |
GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
GO:003043314 | Esophagus | ESCC | ubiquitin-dependent ERAD pathway | 66/8552 | 85/18723 | 1.64e-09 | 3.78e-08 | 66 |
GO:0042542111 | Esophagus | ESCC | response to hydrogen peroxide | 102/8552 | 146/18723 | 2.64e-09 | 5.81e-08 | 102 |
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 |
ANKZF1 | SNV | Missense_Mutation | novel | c.1043T>G | p.Val348Gly | p.V348G | Q9H8Y5 | protein_coding | deleterious(0) | possibly_damaging(0.786) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANKZF1 | SNV | Missense_Mutation | novel | c.1300N>T | p.Pro434Ser | p.P434S | Q9H8Y5 | protein_coding | deleterious(0.02) | benign(0.077) | TCGA-E6-A1M0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ANKZF1 | SNV | Missense_Mutation | novel | c.68N>T | p.Ala23Val | p.A23V | Q9H8Y5 | protein_coding | tolerated(0.18) | benign(0.018) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANKZF1 | SNV | Missense_Mutation | rs761017394 | c.290N>A | p.Arg97Gln | p.R97Q | Q9H8Y5 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANKZF1 | SNV | Missense_Mutation | novel | c.1486A>G | p.Asn496Asp | p.N496D | Q9H8Y5 | protein_coding | tolerated(1) | benign(0) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ANKZF1 | SNV | Missense_Mutation | novel | c.210N>T | p.Glu70Asp | p.E70D | Q9H8Y5 | protein_coding | tolerated(0.66) | benign(0) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
ANKZF1 | insertion | In_Frame_Ins | novel | c.1040_1041insGACACTGGATCGGGAGAGGGCTACATT | p.His347delinsGlnThrLeuAspArgGluArgAlaThrPhe | p.H347delinsQTLDRERATF | Q9H8Y5 | protein_coding | | | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANKZF1 | SNV | Missense_Mutation | | c.1294G>T | p.Val432Leu | p.V432L | Q9H8Y5 | protein_coding | deleterious(0.04) | benign(0.007) | TCGA-2V-A95S-01 | Liver | liver hepatocellular carcinoma | Male | Unknown | I/II | Unknown | Unknown | SD |
ANKZF1 | SNV | Missense_Mutation | | c.31N>G | p.Pro11Ala | p.P11A | Q9H8Y5 | protein_coding | deleterious(0.04) | benign(0.079) | TCGA-DD-A39V-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ANKZF1 | SNV | Missense_Mutation | novel | c.272N>G | p.Tyr91Cys | p.Y91C | Q9H8Y5 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-DD-AADL-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |