GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003164727 | Esophagus | HGIN | regulation of protein stability | 96/2587 | 298/18723 | 2.21e-16 | 5.76e-14 | 96 |
GO:001604919 | Esophagus | HGIN | cell growth | 93/2587 | 482/18723 | 4.49e-04 | 6.62e-03 | 93 |
GO:000155818 | Esophagus | HGIN | regulation of cell growth | 76/2587 | 414/18723 | 5.40e-03 | 4.42e-02 | 76 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:0016049110 | Esophagus | ESCC | cell growth | 289/8552 | 482/18723 | 1.29e-10 | 3.77e-09 | 289 |
GO:000155819 | Esophagus | ESCC | regulation of cell growth | 248/8552 | 414/18723 | 2.97e-09 | 6.45e-08 | 248 |
GO:00459267 | Esophagus | ESCC | negative regulation of growth | 148/8552 | 249/18723 | 7.88e-06 | 7.73e-05 | 148 |
GO:003030710 | Esophagus | ESCC | positive regulation of cell growth | 100/8552 | 166/18723 | 1.07e-04 | 7.55e-04 | 100 |
GO:00303085 | Esophagus | ESCC | negative regulation of cell growth | 108/8552 | 188/18723 | 7.46e-04 | 3.87e-03 | 108 |
GO:004592717 | Esophagus | ESCC | positive regulation of growth | 137/8552 | 259/18723 | 1.13e-02 | 3.80e-02 | 137 |
GO:003164720 | Oral cavity | OSCC | regulation of protein stability | 193/7305 | 298/18723 | 1.30e-19 | 1.95e-17 | 193 |
GO:001604917 | Oral cavity | OSCC | cell growth | 268/7305 | 482/18723 | 6.55e-14 | 3.51e-12 | 268 |
GO:000155816 | Oral cavity | OSCC | regulation of cell growth | 228/7305 | 414/18723 | 1.74e-11 | 6.09e-10 | 228 |
GO:00459266 | Oral cavity | OSCC | negative regulation of growth | 135/7305 | 249/18723 | 7.29e-07 | 1.03e-05 | 135 |
GO:00303079 | Oral cavity | OSCC | positive regulation of cell growth | 92/7305 | 166/18723 | 1.27e-05 | 1.29e-04 | 92 |
GO:00303084 | Oral cavity | OSCC | negative regulation of cell growth | 101/7305 | 188/18723 | 2.85e-05 | 2.63e-04 | 101 |
GO:004592710 | Oral cavity | OSCC | positive regulation of growth | 125/7305 | 259/18723 | 1.44e-03 | 6.97e-03 | 125 |
GO:003164718 | Prostate | BPH | regulation of protein stability | 111/3107 | 298/18723 | 4.58e-18 | 1.42e-15 | 111 |
GO:001604910 | Prostate | BPH | cell growth | 139/3107 | 482/18723 | 7.53e-12 | 5.90e-10 | 139 |
GO:000155810 | Prostate | BPH | regulation of cell growth | 116/3107 | 414/18723 | 2.66e-09 | 1.05e-07 | 116 |
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 |
CDKN2AIP | SNV | Missense_Mutation | | c.1272C>A | p.Phe424Leu | p.F424L | Q9NXV6 | protein_coding | tolerated(0.61) | benign(0.023) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKN2AIP | SNV | Missense_Mutation | | c.1526C>T | p.Ser509Phe | p.S509F | Q9NXV6 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKN2AIP | SNV | Missense_Mutation | | c.274T>C | p.Tyr92His | p.Y92H | Q9NXV6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKN2AIP | SNV | Missense_Mutation | | c.623G>A | p.Arg208Gln | p.R208Q | Q9NXV6 | protein_coding | tolerated(0.26) | benign(0) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKN2AIP | SNV | Missense_Mutation | novel | c.1248G>T | p.Gln416His | p.Q416H | Q9NXV6 | protein_coding | tolerated(0.07) | benign(0.158) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKN2AIP | SNV | Missense_Mutation | novel | c.1435N>A | p.Asp479Asn | p.D479N | Q9NXV6 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKN2AIP | insertion | Frame_Shift_Ins | novel | c.1440_1441insT | p.Val483CysfsTer13 | p.V483Cfs*13 | Q9NXV6 | protein_coding | | | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
CDKN2AIP | insertion | Frame_Shift_Ins | novel | c.116dupT | p.Leu39PhefsTer18 | p.L39Ffs*18 | Q9NXV6 | protein_coding | | | TCGA-BG-A18B-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKN2AIP | SNV | Missense_Mutation | novel | c.388N>G | p.Ile130Val | p.I130V | Q9NXV6 | protein_coding | deleterious(0.02) | benign(0.311) | TCGA-86-8669-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | CR |
CDKN2AIP | SNV | Missense_Mutation | | c.527N>T | p.Ser176Leu | p.S176L | Q9NXV6 | protein_coding | deleterious_low_confidence(0.01) | benign(0.1) | TCGA-MP-A4T2-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |