GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001083319 | Esophagus | ESCC | telomere maintenance via telomere lengthening | 61/8552 | 81/18723 | 5.24e-08 | 9.37e-07 | 61 |
GO:1903321111 | Esophagus | ESCC | negative regulation of protein modification by small protein conjugation or removal | 69/8552 | 95/18723 | 8.54e-08 | 1.44e-06 | 69 |
GO:00322108 | Esophagus | ESCC | regulation of telomere maintenance via telomerase | 43/8552 | 53/18723 | 1.20e-07 | 1.95e-06 | 43 |
GO:005197217 | Esophagus | ESCC | regulation of telomerase activity | 39/8552 | 47/18723 | 1.48e-07 | 2.35e-06 | 39 |
GO:000627816 | Esophagus | ESCC | RNA-dependent DNA biosynthetic process | 56/8552 | 75/18723 | 3.03e-07 | 4.30e-06 | 56 |
GO:00109484 | Esophagus | ESCC | negative regulation of cell cycle process | 177/8552 | 294/18723 | 3.26e-07 | 4.59e-06 | 177 |
GO:190435616 | Esophagus | ESCC | regulation of telomere maintenance via telomere lengthening | 47/8552 | 61/18723 | 5.61e-07 | 7.40e-06 | 47 |
GO:19019883 | Esophagus | ESCC | negative regulation of cell cycle phase transition | 151/8552 | 249/18723 | 1.28e-06 | 1.57e-05 | 151 |
GO:004593013 | Esophagus | ESCC | negative regulation of mitotic cell cycle | 143/8552 | 235/18723 | 1.84e-06 | 2.15e-05 | 143 |
GO:190199113 | Esophagus | ESCC | negative regulation of mitotic cell cycle phase transition | 112/8552 | 179/18723 | 3.69e-06 | 4.03e-05 | 112 |
GO:20012513 | Esophagus | ESCC | negative regulation of chromosome organization | 60/8552 | 86/18723 | 5.20e-06 | 5.45e-05 | 60 |
GO:007019815 | Esophagus | ESCC | protein localization to chromosome, telomeric region | 25/8552 | 29/18723 | 7.24e-06 | 7.20e-05 | 25 |
GO:00103891 | Esophagus | ESCC | regulation of G2/M transition of mitotic cell cycle | 64/8552 | 94/18723 | 9.21e-06 | 8.82e-05 | 64 |
GO:19027491 | Esophagus | ESCC | regulation of cell cycle G2/M phase transition | 68/8552 | 102/18723 | 1.48e-05 | 1.33e-04 | 68 |
GO:003220014 | Esophagus | ESCC | telomere organization | 99/8552 | 159/18723 | 1.77e-05 | 1.57e-04 | 99 |
GO:00109721 | Esophagus | ESCC | negative regulation of G2/M transition of mitotic cell cycle | 41/8552 | 60/18723 | 3.25e-04 | 1.91e-03 | 41 |
GO:19027501 | Esophagus | ESCC | negative regulation of cell cycle G2/M phase transition | 42/8552 | 62/18723 | 3.69e-04 | 2.14e-03 | 42 |
GO:004338819 | Esophagus | ESCC | positive regulation of DNA binding | 38/8552 | 56/18723 | 6.60e-04 | 3.50e-03 | 38 |
GO:190257011 | Esophagus | ESCC | protein localization to nucleolus | 13/8552 | 16/18723 | 4.05e-03 | 1.62e-02 | 13 |
GO:00322052 | Esophagus | ESCC | negative regulation of telomere maintenance | 24/8552 | 35/18723 | 5.25e-03 | 1.97e-02 | 24 |
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 |
PINX1 | SNV | Missense_Mutation | novel | c.581N>G | p.Gln194Arg | p.Q194R | Q96BK5 | protein_coding | tolerated(0.06) | benign(0.092) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PINX1 | SNV | Missense_Mutation | | c.857N>A | p.Gly286Asp | p.G286D | Q96BK5 | protein_coding | tolerated(1) | benign(0) | TCGA-BH-A1EY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PINX1 | insertion | Nonsense_Mutation | novel | c.561_562insTCACCTAATACTGATTTATCTGTCACATGGCTGTAAATAGTGAC | p.Ala188SerfsTer12 | p.A188Sfs*12 | Q96BK5 | protein_coding | | | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PINX1 | insertion | Nonsense_Mutation | novel | c.737_738insATCATTACAAATACATGCATTCATGTAAGTGTGCACAC | p.Glu247SerfsTer9 | p.E247Sfs*9 | Q96BK5 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
PINX1 | insertion | Frame_Shift_Ins | novel | c.441dupT | p.Gly148TrpfsTer6 | p.G148Wfs*6 | Q96BK5 | protein_coding | | | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PINX1 | insertion | Frame_Shift_Ins | novel | c.541_542insGTGCGCATCTGTGTGTGTGTGTGTGTGTCACTATCTCC | p.Tyr181CysfsTer22 | p.Y181Cfs*22 | Q96BK5 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PINX1 | SNV | Missense_Mutation | | c.538G>A | p.Glu180Lys | p.E180K | Q96BK5 | protein_coding | deleterious(0) | possibly_damaging(0.898) | TCGA-EK-A2R7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PINX1 | SNV | Missense_Mutation | | c.853N>A | p.Glu285Lys | p.E285K | Q96BK5 | protein_coding | deleterious(0.05) | benign(0.006) | TCGA-FU-A2QG-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PINX1 | SNV | Missense_Mutation | | c.324G>T | p.Lys108Asn | p.K108N | Q96BK5 | protein_coding | deleterious(0.03) | possibly_damaging(0.635) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD |
PINX1 | SNV | Missense_Mutation | | c.551N>C | p.Lys184Thr | p.K184T | Q96BK5 | protein_coding | deleterious(0.03) | benign(0.426) | TCGA-AA-3851-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |