GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000632517 | Esophagus | ESCC | chromatin organization | 240/8552 | 409/18723 | 6.52e-08 | 1.14e-06 | 240 |
GO:002260420 | Esophagus | ESCC | regulation of cell morphogenesis | 180/8552 | 309/18723 | 5.19e-06 | 5.45e-05 | 180 |
GO:003134616 | Esophagus | ESCC | positive regulation of cell projection organization | 201/8552 | 353/18723 | 1.19e-05 | 1.11e-04 | 201 |
GO:001072010 | Esophagus | ESCC | positive regulation of cell development | 172/8552 | 298/18723 | 1.74e-05 | 1.55e-04 | 172 |
GO:005076710 | Esophagus | ESCC | regulation of neurogenesis | 203/8552 | 364/18723 | 6.10e-05 | 4.68e-04 | 203 |
GO:00507697 | Esophagus | ESCC | positive regulation of neurogenesis | 131/8552 | 225/18723 | 9.71e-05 | 6.90e-04 | 131 |
GO:001097516 | Esophagus | ESCC | regulation of neuron projection development | 240/8552 | 445/18723 | 2.48e-04 | 1.53e-03 | 240 |
GO:001076920 | Esophagus | ESCC | regulation of cell morphogenesis involved in differentiation | 61/8552 | 96/18723 | 3.12e-04 | 1.85e-03 | 61 |
GO:00519606 | Esophagus | ESCC | regulation of nervous system development | 237/8552 | 443/18723 | 5.02e-04 | 2.78e-03 | 237 |
GO:001077018 | Esophagus | ESCC | positive regulation of cell morphogenesis involved in differentiation | 51/8552 | 79/18723 | 5.48e-04 | 3.00e-03 | 51 |
GO:00519625 | Esophagus | ESCC | positive regulation of nervous system development | 149/8552 | 272/18723 | 1.50e-03 | 7.06e-03 | 149 |
GO:001635816 | Esophagus | ESCC | dendrite development | 130/8552 | 243/18723 | 8.33e-03 | 2.95e-02 | 130 |
GO:00226047 | Liver | NAFLD | regulation of cell morphogenesis | 62/1882 | 309/18723 | 8.35e-08 | 7.09e-06 | 62 |
GO:00107697 | Liver | NAFLD | regulation of cell morphogenesis involved in differentiation | 24/1882 | 96/18723 | 1.98e-05 | 5.62e-04 | 24 |
GO:00163585 | Liver | NAFLD | dendrite development | 43/1882 | 243/18723 | 1.70e-04 | 3.07e-03 | 43 |
GO:00313465 | Liver | NAFLD | positive regulation of cell projection organization | 57/1882 | 353/18723 | 2.19e-04 | 3.73e-03 | 57 |
GO:00063255 | Liver | NAFLD | chromatin organization | 64/1882 | 409/18723 | 2.31e-04 | 3.89e-03 | 64 |
GO:00107707 | Liver | NAFLD | positive regulation of cell morphogenesis involved in differentiation | 19/1882 | 79/18723 | 2.42e-04 | 4.06e-03 | 19 |
GO:00488133 | Liver | NAFLD | dendrite morphogenesis | 29/1882 | 146/18723 | 2.63e-04 | 4.26e-03 | 29 |
GO:00109755 | Liver | NAFLD | regulation of neuron projection development | 64/1882 | 445/18723 | 2.12e-03 | 2.08e-02 | 64 |
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 |
SS18L1 | SNV | Missense_Mutation | rs140015301 | c.464N>T | p.Ala155Val | p.A155V | O75177 | protein_coding | tolerated_low_confidence(0.05) | benign(0.06) | TCGA-A2-A0CO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
SS18L1 | SNV | Missense_Mutation | novel | c.298N>T | p.His100Tyr | p.H100Y | O75177 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SS18L1 | SNV | Missense_Mutation | novel | c.1064A>G | p.Tyr355Cys | p.Y355C | O75177 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.996) | TCGA-HM-A6W2-06 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
SS18L1 | SNV | Missense_Mutation | novel | c.758N>G | p.Tyr253Cys | p.Y253C | O75177 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-VS-A9V4-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
SS18L1 | SNV | Missense_Mutation | | c.791C>T | p.Ala264Val | p.A264V | O75177 | protein_coding | deleterious_low_confidence(0.02) | benign(0.06) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR |
SS18L1 | SNV | Missense_Mutation | novel | c.1142N>G | p.Gln381Arg | p.Q381R | O75177 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.953) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SS18L1 | SNV | Missense_Mutation | | c.1088N>A | p.Gly363Asp | p.G363D | O75177 | protein_coding | deleterious_low_confidence(0) | benign(0.43) | TCGA-CM-5860-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | SD |
SS18L1 | SNV | Missense_Mutation | rs746253864 | c.143C>T | p.Thr48Met | p.T48M | O75177 | protein_coding | deleterious(0.04) | benign(0.369) | TCGA-F4-6463-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SS18L1 | SNV | Missense_Mutation | novel | c.875N>G | p.Asp292Gly | p.D292G | O75177 | protein_coding | deleterious_low_confidence(0.04) | possibly_damaging(0.629) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SS18L1 | SNV | Missense_Mutation | rs753325512 | c.610G>A | p.Gly204Ser | p.G204S | O75177 | protein_coding | tolerated_low_confidence(0.06) | possibly_damaging(0.747) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |