GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:0006986111 | Esophagus | ESCC | response to unfolded protein | 107/8552 | 137/18723 | 7.01e-15 | 3.87e-13 | 107 |
GO:005160418 | Esophagus | ESCC | protein maturation | 189/8552 | 294/18723 | 7.64e-11 | 2.39e-09 | 189 |
GO:0070059111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 50/8552 | 63/18723 | 4.37e-08 | 7.96e-07 | 50 |
GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:00442725 | Esophagus | ESCC | sulfur compound biosynthetic process | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:00072197 | Esophagus | ESCC | Notch signaling pathway | 106/8552 | 172/18723 | 1.74e-05 | 1.55e-04 | 106 |
GO:001648514 | Esophagus | ESCC | protein processing | 134/8552 | 225/18723 | 1.81e-05 | 1.60e-04 | 134 |
GO:00065757 | Esophagus | ESCC | cellular modified amino acid metabolic process | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:0045746 | Esophagus | ESCC | negative regulation of Notch signaling pathway | 28/8552 | 36/18723 | 8.62e-05 | 6.22e-04 | 28 |
GO:00423986 | Esophagus | ESCC | cellular modified amino acid biosynthetic process | 34/8552 | 46/18723 | 9.39e-05 | 6.70e-04 | 34 |
GO:0045861111 | Esophagus | ESCC | negative regulation of proteolysis | 195/8552 | 351/18723 | 1.13e-04 | 7.85e-04 | 195 |
GO:00085935 | Esophagus | ESCC | regulation of Notch signaling pathway | 59/8552 | 95/18723 | 9.12e-04 | 4.65e-03 | 59 |
GO:000674912 | Esophagus | ESCC | glutathione metabolic process | 42/8552 | 64/18723 | 1.01e-03 | 5.12e-03 | 42 |
GO:001095511 | Esophagus | ESCC | negative regulation of protein processing | 20/8552 | 29/18723 | 9.66e-03 | 3.34e-02 | 20 |
GO:190331811 | Esophagus | ESCC | negative regulation of protein maturation | 20/8552 | 29/18723 | 9.66e-03 | 3.34e-02 | 20 |
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 |
CHAC1 | SNV | Missense_Mutation | | c.550N>A | p.Ala184Thr | p.A184T | Q9BUX1 | protein_coding | tolerated(0.06) | benign(0.212) | TCGA-EI-6507-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CHAC1 | SNV | Missense_Mutation | rs373245737 | c.490N>A | p.Asp164Asn | p.D164N | Q9BUX1 | protein_coding | tolerated(0.21) | possibly_damaging(0.748) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
CHAC1 | SNV | Missense_Mutation | novel | c.412N>A | p.Ala138Thr | p.A138T | Q9BUX1 | protein_coding | deleterious(0) | possibly_damaging(0.639) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CHAC1 | SNV | Missense_Mutation | novel | c.138N>T | p.Glu46Asp | p.E46D | Q9BUX1 | protein_coding | tolerated_low_confidence(0.21) | benign(0) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CHAC1 | SNV | Missense_Mutation | novel | c.731N>C | p.Val244Ala | p.V244A | Q9BUX1 | protein_coding | tolerated(0.62) | benign(0.277) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
CHAC1 | SNV | Missense_Mutation | novel | c.611C>A | p.Ala204Asp | p.A204D | Q9BUX1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CHAC1 | SNV | Missense_Mutation | rs781632634 | c.643N>A | p.Gly215Ser | p.G215S | Q9BUX1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DD-A73G-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHAC1 | SNV | Missense_Mutation | | c.708G>T | p.Gln236His | p.Q236H | Q9BUX1 | protein_coding | tolerated(0.25) | benign(0.115) | TCGA-49-AARQ-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CHAC1 | SNV | Missense_Mutation | | c.550N>T | p.Ala184Ser | p.A184S | Q9BUX1 | protein_coding | deleterious(0.02) | possibly_damaging(0.681) | TCGA-21-1080-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
CHAC1 | SNV | Missense_Mutation | novel | c.431N>T | p.Glu144Val | p.E144V | Q9BUX1 | protein_coding | deleterious(0.03) | benign(0.215) | TCGA-22-1016-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |