GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0001667 | Colorectum | AD | ameboidal-type cell migration | 137/3918 | 475/18723 | 2.17e-05 | 4.33e-04 | 137 |
GO:0001701 | Colorectum | AD | in utero embryonic development | 110/3918 | 367/18723 | 2.36e-05 | 4.62e-04 | 110 |
GO:0001890 | Colorectum | AD | placenta development | 51/3918 | 144/18723 | 3.99e-05 | 7.16e-04 | 51 |
GO:0001892 | Colorectum | AD | embryonic placenta development | 33/3918 | 82/18723 | 5.30e-05 | 9.01e-04 | 33 |
GO:0060562 | Colorectum | AD | epithelial tube morphogenesis | 93/3918 | 325/18723 | 5.65e-04 | 6.00e-03 | 93 |
GO:0060711 | Colorectum | AD | labyrinthine layer development | 19/3918 | 44/18723 | 7.13e-04 | 7.21e-03 | 19 |
GO:0050673 | Colorectum | AD | epithelial cell proliferation | 119/3918 | 437/18723 | 8.75e-04 | 8.51e-03 | 119 |
GO:0007178 | Colorectum | AD | transmembrane receptor protein serine/threonine kinase signaling pathway | 99/3918 | 355/18723 | 9.92e-04 | 9.28e-03 | 99 |
GO:0014020 | Colorectum | AD | primary neural tube formation | 33/3918 | 94/18723 | 1.02e-03 | 9.50e-03 | 33 |
GO:0061458 | Colorectum | AD | reproductive system development | 116/3918 | 427/18723 | 1.11e-03 | 1.01e-02 | 116 |
GO:0001841 | Colorectum | AD | neural tube formation | 35/3918 | 102/18723 | 1.16e-03 | 1.05e-02 | 35 |
GO:0043616 | Colorectum | AD | keratinocyte proliferation | 19/3918 | 46/18723 | 1.36e-03 | 1.19e-02 | 19 |
GO:0071559 | Colorectum | AD | response to transforming growth factor beta | 74/3918 | 256/18723 | 1.45e-03 | 1.23e-02 | 74 |
GO:0048608 | Colorectum | AD | reproductive structure development | 114/3918 | 424/18723 | 1.78e-03 | 1.47e-02 | 114 |
GO:0071560 | Colorectum | AD | cellular response to transforming growth factor beta stimulus | 72/3918 | 250/18723 | 1.85e-03 | 1.52e-02 | 72 |
GO:0060390 | Colorectum | AD | regulation of SMAD protein signal transduction | 14/3918 | 31/18723 | 2.10e-03 | 1.67e-02 | 14 |
GO:0010837 | Colorectum | AD | regulation of keratinocyte proliferation | 15/3918 | 35/18723 | 2.78e-03 | 2.09e-02 | 15 |
GO:0060395 | Colorectum | AD | SMAD protein signal transduction | 28/3918 | 82/18723 | 3.73e-03 | 2.63e-02 | 28 |
GO:0035148 | Colorectum | AD | tube formation | 45/3918 | 148/18723 | 4.13e-03 | 2.87e-02 | 45 |
GO:0001838 | Colorectum | AD | embryonic epithelial tube formation | 38/3918 | 121/18723 | 4.40e-03 | 3.01e-02 | 38 |
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 |
OVOL2 | SNV | Missense_Mutation | novel | c.749T>C | p.Leu250Pro | p.L250P | Q9BRP0 | protein_coding | deleterious(0.01) | probably_damaging(0.963) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
OVOL2 | insertion | Frame_Shift_Ins | novel | c.664_665insGCAGTAGGGTC | p.Thr222SerfsTer16 | p.T222Sfs*16 | Q9BRP0 | protein_coding | | | TCGA-AO-A0J3-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD |
OVOL2 | insertion | Frame_Shift_Ins | novel | c.332_333insAT | p.Thr112SerfsTer24 | p.T112Sfs*24 | Q9BRP0 | protein_coding | | | TCGA-B6-A0IM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OVOL2 | insertion | Nonsense_Mutation | novel | c.331_332insAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAA | p.Gly111GlufsTer12 | p.G111Efs*12 | Q9BRP0 | protein_coding | | | TCGA-B6-A0IM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OVOL2 | SNV | Missense_Mutation | | c.481N>C | p.Asp161His | p.D161H | Q9BRP0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
OVOL2 | SNV | Missense_Mutation | | c.343G>A | p.Asp115Asn | p.D115N | Q9BRP0 | protein_coding | tolerated(0.15) | benign(0.007) | TCGA-JW-A5VG-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
OVOL2 | SNV | Missense_Mutation | rs368800012 | c.407N>A | p.Arg136His | p.R136H | Q9BRP0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D5-6530-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
OVOL2 | SNV | Missense_Mutation | novel | c.701A>G | p.Asn234Ser | p.N234S | Q9BRP0 | protein_coding | tolerated(0.32) | benign(0.034) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
OVOL2 | SNV | Missense_Mutation | novel | c.527N>G | p.Lys176Arg | p.K176R | Q9BRP0 | protein_coding | deleterious(0.05) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
OVOL2 | SNV | Missense_Mutation | novel | c.674C>G | p.Thr225Ser | p.T225S | Q9BRP0 | protein_coding | tolerated(0.69) | benign(0.047) | TCGA-A5-A2K2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | taxol | SD |