GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00525476 | Stomach | GC | regulation of peptidase activity | 67/1159 | 461/18723 | 5.35e-11 | 1.10e-08 | 67 |
GO:00525486 | Stomach | GC | regulation of endopeptidase activity | 63/1159 | 432/18723 | 1.76e-10 | 2.82e-08 | 63 |
GO:20001166 | Stomach | GC | regulation of cysteine-type endopeptidase activity | 37/1159 | 235/18723 | 1.47e-07 | 8.52e-06 | 37 |
GO:00442424 | Stomach | GC | cellular lipid catabolic process | 32/1159 | 214/18723 | 3.16e-06 | 1.29e-04 | 32 |
GO:00432816 | Stomach | GC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 31/1159 | 209/18723 | 5.31e-06 | 2.11e-04 | 31 |
GO:00160425 | Stomach | GC | lipid catabolic process | 41/1159 | 320/18723 | 7.84e-06 | 2.80e-04 | 41 |
GO:00723316 | Stomach | GC | signal transduction by p53 class mediator | 26/1159 | 163/18723 | 7.98e-06 | 2.82e-04 | 26 |
GO:00458626 | Stomach | GC | positive regulation of proteolysis | 44/1159 | 372/18723 | 2.81e-05 | 7.88e-04 | 44 |
GO:00060665 | Stomach | GC | alcohol metabolic process | 41/1159 | 353/18723 | 7.85e-05 | 1.68e-03 | 41 |
GO:00109526 | Stomach | GC | positive regulation of peptidase activity | 27/1159 | 197/18723 | 8.57e-05 | 1.79e-03 | 27 |
GO:00108106 | Stomach | GC | regulation of cell-substrate adhesion | 28/1159 | 221/18723 | 2.49e-04 | 4.17e-03 | 28 |
GO:00109506 | Stomach | GC | positive regulation of endopeptidase activity | 24/1159 | 179/18723 | 2.90e-04 | 4.67e-03 | 24 |
GO:00315895 | Stomach | GC | cell-substrate adhesion | 40/1159 | 363/18723 | 2.91e-04 | 4.68e-03 | 40 |
GO:00303306 | Stomach | GC | DNA damage response, signal transduction by p53 class mediator | 13/1159 | 72/18723 | 4.25e-04 | 6.35e-03 | 13 |
GO:20010565 | Stomach | GC | positive regulation of cysteine-type endopeptidase activity | 20/1159 | 148/18723 | 8.11e-04 | 1.02e-02 | 20 |
GO:00071623 | Stomach | GC | negative regulation of cell adhesion | 32/1159 | 303/18723 | 2.24e-03 | 2.20e-02 | 32 |
GO:00019525 | Stomach | GC | regulation of cell-matrix adhesion | 17/1159 | 128/18723 | 2.33e-03 | 2.25e-02 | 17 |
GO:00432805 | Stomach | GC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 17/1159 | 129/18723 | 2.54e-03 | 2.39e-02 | 17 |
GO:00071605 | Stomach | GC | cell-matrix adhesion | 25/1159 | 233/18723 | 5.24e-03 | 4.11e-02 | 25 |
GO:005254711 | Stomach | CAG with IM | regulation of peptidase activity | 61/1050 | 461/18723 | 3.60e-10 | 6.00e-08 | 61 |
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 |
ACER2 | SNV | Missense_Mutation | rs369508087 | c.194A>G | p.Tyr65Cys | p.Y65C | Q5QJU3 | protein_coding | tolerated(0.11) | probably_damaging(0.969) | TCGA-A8-A085-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ACER2 | SNV | Missense_Mutation | | c.707N>T | p.Ser236Leu | p.S236L | Q5QJU3 | protein_coding | tolerated(0.16) | benign(0.345) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACER2 | SNV | Missense_Mutation | | c.819N>C | p.Lys273Asn | p.K273N | Q5QJU3 | protein_coding | deleterious_low_confidence(0) | benign(0.376) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
ACER2 | insertion | Nonsense_Mutation | novel | c.329_330insTCTTATTTAATTCTTAGTTAATAAGAATAAGAGAGGAGCTTGGG | p.Arg111LeufsTer3 | p.R111Lfs*3 | Q5QJU3 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACER2 | SNV | Missense_Mutation | novel | c.58T>G | p.Cys20Gly | p.C20G | Q5QJU3 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR |
ACER2 | SNV | Missense_Mutation | rs149224164 | c.518G>A | p.Arg173His | p.R173H | Q5QJU3 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-AD-6899-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
ACER2 | SNV | Missense_Mutation | rs767197220 | c.73N>G | p.Thr25Ala | p.T25A | Q5QJU3 | protein_coding | tolerated(0.88) | benign(0.005) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ACER2 | SNV | Missense_Mutation | rs770384271 | c.235N>A | p.Val79Ile | p.V79I | Q5QJU3 | protein_coding | tolerated(0.14) | benign(0.269) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACER2 | SNV | Missense_Mutation | novel | c.490N>A | p.Ala164Thr | p.A164T | Q5QJU3 | protein_coding | tolerated(0.62) | benign(0.003) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACER2 | SNV | Missense_Mutation | novel | c.490N>A | p.Ala164Thr | p.A164T | Q5QJU3 | protein_coding | tolerated(0.62) | benign(0.003) | TCGA-A5-A0GG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |