GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0035994 | Liver | NAFLD | response to muscle stretch | 9/1882 | 23/18723 | 2.26e-04 | 3.83e-03 | 9 |
GO:00600705 | Liver | NAFLD | canonical Wnt signaling pathway | 50/1882 | 303/18723 | 3.08e-04 | 4.83e-03 | 50 |
GO:0097150 | Liver | NAFLD | neuronal stem cell population maintenance | 8/1882 | 20/18723 | 4.27e-04 | 6.32e-03 | 8 |
GO:00198273 | Liver | NAFLD | stem cell population maintenance | 26/1882 | 131/18723 | 5.40e-04 | 7.38e-03 | 26 |
GO:00987273 | Liver | NAFLD | maintenance of cell number | 26/1882 | 134/18723 | 7.72e-04 | 9.73e-03 | 26 |
GO:00488727 | Liver | NAFLD | homeostasis of number of cells | 43/1882 | 272/18723 | 1.86e-03 | 1.91e-02 | 43 |
GO:00109755 | Liver | NAFLD | regulation of neuron projection development | 64/1882 | 445/18723 | 2.12e-03 | 2.08e-02 | 64 |
GO:00516485 | Liver | NAFLD | vesicle localization | 30/1882 | 177/18723 | 3.01e-03 | 2.72e-02 | 30 |
GO:00488632 | Liver | NAFLD | stem cell differentiation | 33/1882 | 206/18723 | 4.81e-03 | 3.81e-02 | 33 |
GO:00452167 | Liver | NAFLD | cell-cell junction organization | 32/1882 | 200/18723 | 5.53e-03 | 4.23e-02 | 32 |
GO:00016676 | Liver | NAFLD | ameboidal-type cell migration | 65/1882 | 475/18723 | 6.32e-03 | 4.69e-02 | 65 |
GO:00615645 | Liver | NAFLD | axon development | 64/1882 | 467/18723 | 6.48e-03 | 4.69e-02 | 64 |
GO:00074095 | Liver | NAFLD | axonogenesis | 58/1882 | 418/18723 | 7.16e-03 | 4.96e-02 | 58 |
GO:199077811 | Liver | Cirrhotic | protein localization to cell periphery | 135/4634 | 333/18723 | 1.18e-10 | 6.21e-09 | 135 |
GO:007265911 | Liver | Cirrhotic | protein localization to plasma membrane | 119/4634 | 284/18723 | 1.30e-10 | 6.80e-09 | 119 |
GO:19054755 | Liver | Cirrhotic | regulation of protein localization to membrane | 76/4634 | 175/18723 | 4.55e-08 | 1.45e-06 | 76 |
GO:001605511 | Liver | Cirrhotic | Wnt signaling pathway | 150/4634 | 444/18723 | 9.75e-06 | 1.42e-04 | 150 |
GO:019873811 | Liver | Cirrhotic | cell-cell signaling by wnt | 150/4634 | 446/18723 | 1.28e-05 | 1.80e-04 | 150 |
GO:003011111 | Liver | Cirrhotic | regulation of Wnt signaling pathway | 112/4634 | 328/18723 | 7.57e-05 | 8.40e-04 | 112 |
GO:000206412 | Liver | Cirrhotic | epithelial cell development | 80/4634 | 220/18723 | 7.63e-05 | 8.44e-04 | 80 |
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 |
CDH2 | SNV | Missense_Mutation | novel | c.2125N>C | p.Cys709Arg | p.C709R | P19022 | protein_coding | deleterious(0.01) | possibly_damaging(0.866) | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CDH2 | SNV | Missense_Mutation | | c.1949N>C | p.Arg650Thr | p.R650T | P19022 | protein_coding | deleterious(0.02) | possibly_damaging(0.665) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
CDH2 | SNV | Missense_Mutation | novel | c.847N>A | p.Gly283Arg | p.G283R | P19022 | protein_coding | tolerated(0.05) | possibly_damaging(0.715) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
CDH2 | SNV | Missense_Mutation | | c.560G>C | p.Arg187Thr | p.R187T | P19022 | protein_coding | deleterious(0.01) | possibly_damaging(0.8) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CDH2 | insertion | Frame_Shift_Ins | novel | c.2122_2123insTTCCATGCTTGGTTTACAAT | p.Asp708ValfsTer40 | p.D708Vfs*40 | P19022 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CDH2 | insertion | Frame_Shift_Ins | novel | c.2604_2605insATTTTATGTGCCTTTTTGTACCTTTTTCAGATTGGAAT | p.Ser869IlefsTer15 | p.S869Ifs*15 | P19022 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
CDH2 | insertion | Nonsense_Mutation | novel | c.2275_2276insAGTGGTTTTTCTACCATACATA | p.Leu759Ter | p.L759* | P19022 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDH2 | SNV | Missense_Mutation | rs771312999 | c.2257N>T | p.Arg753Cys | p.R753C | P19022 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CDH2 | SNV | Missense_Mutation | rs140836073 | c.2153N>T | p.Ala718Val | p.A718V | P19022 | protein_coding | deleterious(0) | benign(0.369) | TCGA-C5-A7CK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
CDH2 | SNV | Missense_Mutation | rs201148355 | c.1471N>A | p.Val491Ile | p.V491I | P19022 | protein_coding | tolerated(0.19) | benign(0.001) | TCGA-DS-A0VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |