GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
GO:000961518 | Esophagus | ESCC | response to virus | 238/8552 | 367/18723 | 6.65e-14 | 3.32e-12 | 238 |
GO:00516075 | Esophagus | ESCC | defense response to virus | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
GO:01405465 | Esophagus | ESCC | defense response to symbiont | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
GO:003158919 | Esophagus | ESCC | cell-substrate adhesion | 221/8552 | 363/18723 | 3.06e-09 | 6.62e-08 | 221 |
GO:001081020 | Esophagus | ESCC | regulation of cell-substrate adhesion | 144/8552 | 221/18723 | 3.55e-09 | 7.45e-08 | 144 |
GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
GO:001081126 | Esophagus | ESCC | positive regulation of cell-substrate adhesion | 84/8552 | 123/18723 | 3.18e-07 | 4.50e-06 | 84 |
GO:002260420 | Esophagus | ESCC | regulation of cell morphogenesis | 180/8552 | 309/18723 | 5.19e-06 | 5.45e-05 | 180 |
GO:001072010 | Esophagus | ESCC | positive regulation of cell development | 172/8552 | 298/18723 | 1.74e-05 | 1.55e-04 | 172 |
GO:001076920 | Esophagus | ESCC | regulation of cell morphogenesis involved in differentiation | 61/8552 | 96/18723 | 3.12e-04 | 1.85e-03 | 61 |
GO:001077018 | Esophagus | ESCC | positive regulation of cell morphogenesis involved in differentiation | 51/8552 | 79/18723 | 5.48e-04 | 3.00e-03 | 51 |
GO:190002420 | Esophagus | ESCC | regulation of substrate adhesion-dependent cell spreading | 38/8552 | 57/18723 | 1.11e-03 | 5.56e-03 | 38 |
GO:00025442 | Esophagus | ESCC | chronic inflammatory response | 15/8552 | 18/18723 | 1.20e-03 | 5.88e-03 | 15 |
GO:003444620 | Esophagus | ESCC | substrate adhesion-dependent cell spreading | 65/8552 | 108/18723 | 1.67e-03 | 7.72e-03 | 65 |
GO:0002467 | Esophagus | ESCC | germinal center formation | 12/8552 | 14/18723 | 2.51e-03 | 1.08e-02 | 12 |
GO:190002620 | Esophagus | ESCC | positive regulation of substrate adhesion-dependent cell spreading | 28/8552 | 41/18723 | 2.88e-03 | 1.21e-02 | 28 |
GO:0022604112 | Thyroid | PTC | regulation of cell morphogenesis | 165/5968 | 309/18723 | 2.60e-15 | 1.82e-13 | 165 |
GO:005165620 | Thyroid | PTC | establishment of organelle localization | 193/5968 | 390/18723 | 2.21e-13 | 1.15e-11 | 193 |
GO:0010810112 | Thyroid | PTC | regulation of cell-substrate adhesion | 113/5968 | 221/18723 | 1.87e-09 | 5.28e-08 | 113 |
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 |
UNC13D | SNV | Missense_Mutation | | c.736N>A | p.Val246Met | p.V246M | Q70J99 | protein_coding | deleterious(0) | possibly_damaging(0.724) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UNC13D | SNV | Missense_Mutation | | c.1244N>T | p.Ser415Phe | p.S415F | Q70J99 | protein_coding | deleterious(0.04) | possibly_damaging(0.503) | TCGA-C8-A26X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
UNC13D | SNV | Missense_Mutation | rs560279707 | c.3230N>A | p.Arg1077Gln | p.R1077Q | Q70J99 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-C8-A8HR-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
UNC13D | SNV | Missense_Mutation | rs774176637 | c.761G>A | p.Arg254His | p.R254H | Q70J99 | protein_coding | tolerated(0.9) | benign(0) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
UNC13D | SNV | Missense_Mutation | novel | c.2823N>A | p.Asp941Glu | p.D941E | Q70J99 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-GM-A2DN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
UNC13D | insertion | Frame_Shift_Ins | novel | c.612_613insGGTGGAATGGTGGTGCGGCTGGAGAC | p.Trp205GlyfsTer53 | p.W205Gfs*53 | Q70J99 | protein_coding | | | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
UNC13D | deletion | Frame_Shift_Del | novel | c.498delN | p.Glu167ArgfsTer82 | p.E167Rfs*82 | Q70J99 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
UNC13D | SNV | Missense_Mutation | | c.421N>C | p.Glu141Gln | p.E141Q | Q70J99 | protein_coding | tolerated(0.38) | possibly_damaging(0.772) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
UNC13D | SNV | Missense_Mutation | rs776737156 | c.3049G>A | p.Glu1017Lys | p.E1017K | Q70J99 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
UNC13D | SNV | Missense_Mutation | novel | c.787N>A | p.Leu263Met | p.L263M | Q70J99 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-UC-A7PG-06 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |