GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00071639 | Cervix | CC | establishment or maintenance of cell polarity | 63/2311 | 218/18723 | 4.25e-11 | 8.76e-09 | 63 |
GO:00300108 | Cervix | CC | establishment of cell polarity | 42/2311 | 143/18723 | 4.30e-08 | 2.62e-06 | 42 |
GO:19021153 | Cervix | CC | regulation of organelle assembly | 40/2311 | 186/18723 | 2.92e-04 | 3.15e-03 | 40 |
GO:01200328 | Cervix | CC | regulation of plasma membrane bounded cell projection assembly | 38/2311 | 186/18723 | 1.14e-03 | 9.35e-03 | 38 |
GO:00604917 | Cervix | CC | regulation of cell projection assembly | 38/2311 | 188/18723 | 1.40e-03 | 1.10e-02 | 38 |
GO:00351487 | Cervix | CC | tube formation | 31/2311 | 148/18723 | 2.07e-03 | 1.51e-02 | 31 |
GO:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:0032535 | Colorectum | AD | regulation of cellular component size | 142/3918 | 383/18723 | 1.74e-13 | 3.41e-11 | 142 |
GO:0090150 | Colorectum | AD | establishment of protein localization to membrane | 100/3918 | 260/18723 | 6.01e-11 | 6.33e-09 | 100 |
GO:0048193 | Colorectum | AD | Golgi vesicle transport | 109/3918 | 296/18723 | 1.80e-10 | 1.68e-08 | 109 |
GO:1905475 | Colorectum | AD | regulation of protein localization to membrane | 73/3918 | 175/18723 | 3.37e-10 | 2.93e-08 | 73 |
GO:1903076 | Colorectum | AD | regulation of protein localization to plasma membrane | 48/3918 | 104/18723 | 7.17e-09 | 4.36e-07 | 48 |
GO:1904375 | Colorectum | AD | regulation of protein localization to cell periphery | 54/3918 | 125/18723 | 1.52e-08 | 9.00e-07 | 54 |
GO:0098876 | Colorectum | AD | vesicle-mediated transport to the plasma membrane | 57/3918 | 136/18723 | 2.30e-08 | 1.27e-06 | 57 |
GO:0061951 | Colorectum | AD | establishment of protein localization to plasma membrane | 31/3918 | 60/18723 | 1.37e-07 | 6.42e-06 | 31 |
GO:0006892 | Colorectum | AD | post-Golgi vesicle-mediated transport | 45/3918 | 104/18723 | 2.22e-07 | 9.26e-06 | 45 |
GO:0070997 | Colorectum | AD | neuron death | 114/3918 | 361/18723 | 1.13e-06 | 3.72e-05 | 114 |
GO:0016049 | Colorectum | AD | cell growth | 143/3918 | 482/18723 | 2.83e-06 | 8.09e-05 | 143 |
GO:0001558 | Colorectum | AD | regulation of cell growth | 124/3918 | 414/18723 | 7.67e-06 | 1.86e-04 | 124 |
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 |
DCC | SNV | Missense_Mutation | novel | c.1786N>A | p.Leu596Ile | p.L596I | P43146 | protein_coding | tolerated(0.07) | benign(0.02) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DCC | SNV | Missense_Mutation | rs751280613 | c.3683N>A | p.Arg1228Gln | p.R1228Q | P43146 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DCC | SNV | Missense_Mutation | rs776292641 | c.1226N>T | p.Ala409Val | p.A409V | P43146 | protein_coding | tolerated(0.44) | benign(0.006) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DCC | SNV | Missense_Mutation | | c.2754N>A | p.Phe918Leu | p.F918L | P43146 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DCC | SNV | Missense_Mutation | rs552730020 | c.233N>A | p.Gly78Asp | p.G78D | P43146 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
DCC | SNV | Missense_Mutation | novel | c.1398N>A | p.Phe466Leu | p.F466L | P43146 | protein_coding | deleterious(0) | possibly_damaging(0.617) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
DCC | SNV | Missense_Mutation | novel | c.1849N>G | p.Thr617Ala | p.T617A | P43146 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
DCC | SNV | Missense_Mutation | novel | c.1541C>A | p.Ser514Tyr | p.S514Y | P43146 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
DCC | SNV | Missense_Mutation | novel | c.2155N>T | p.Asp719Tyr | p.D719Y | P43146 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DCC | SNV | Missense_Mutation | novel | c.3158N>T | p.Asp1053Val | p.D1053V | P43146 | protein_coding | deleterious(0.03) | probably_damaging(0.986) | TCGA-EY-A1GC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |