GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
GO:00507775 | Esophagus | ESCC | negative regulation of immune response | 112/8552 | 194/18723 | 4.67e-04 | 2.62e-03 | 112 |
GO:00063101 | Esophagus | ESCC | DNA recombination | 168/8552 | 305/18723 | 5.58e-04 | 3.05e-03 | 168 |
GO:002240720 | Esophagus | ESCC | regulation of cell-cell adhesion | 239/8552 | 448/18723 | 5.88e-04 | 3.19e-03 | 239 |
GO:000268316 | Esophagus | ESCC | negative regulation of immune system process | 231/8552 | 434/18723 | 8.48e-04 | 4.36e-03 | 231 |
GO:00025622 | Esophagus | ESCC | somatic diversification of immune receptors via germline recombination within a single locus | 43/8552 | 66/18723 | 1.10e-03 | 5.53e-03 | 43 |
GO:00164442 | Esophagus | ESCC | somatic cell DNA recombination | 43/8552 | 66/18723 | 1.10e-03 | 5.53e-03 | 43 |
GO:00164472 | Esophagus | ESCC | somatic recombination of immunoglobulin gene segments | 38/8552 | 57/18723 | 1.11e-03 | 5.56e-03 | 38 |
GO:00022003 | Esophagus | ESCC | somatic diversification of immune receptors | 49/8552 | 77/18723 | 1.12e-03 | 5.60e-03 | 49 |
GO:004211018 | Esophagus | ESCC | T cell activation | 256/8552 | 487/18723 | 1.18e-03 | 5.87e-03 | 256 |
GO:002240919 | Esophagus | ESCC | positive regulation of cell-cell adhesion | 155/8552 | 284/18723 | 1.50e-03 | 7.06e-03 | 155 |
GO:00164452 | Esophagus | ESCC | somatic diversification of immunoglobulins | 43/8552 | 67/18723 | 1.73e-03 | 7.97e-03 | 43 |
GO:000181916 | Esophagus | ESCC | positive regulation of cytokine production | 244/8552 | 467/18723 | 2.29e-03 | 1.01e-02 | 244 |
GO:00023815 | Esophagus | ESCC | immunoglobulin production involved in immunoglobulin-mediated immune response | 44/8552 | 70/18723 | 2.80e-03 | 1.19e-02 | 44 |
GO:005087015 | Esophagus | ESCC | positive regulation of T cell activation | 117/8552 | 216/18723 | 7.23e-03 | 2.62e-02 | 117 |
GO:000268515 | Esophagus | ESCC | regulation of leukocyte migration | 114/8552 | 210/18723 | 7.26e-03 | 2.63e-02 | 114 |
GO:190303916 | Esophagus | ESCC | positive regulation of leukocyte cell-cell adhesion | 128/8552 | 239/18723 | 8.40e-03 | 2.96e-02 | 128 |
GO:0002204 | Esophagus | ESCC | somatic recombination of immunoglobulin genes involved in immune response | 31/8552 | 49/18723 | 9.89e-03 | 3.40e-02 | 31 |
GO:0002208 | Esophagus | ESCC | somatic diversification of immunoglobulins involved in immune response | 31/8552 | 49/18723 | 9.89e-03 | 3.40e-02 | 31 |
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 |
IL27RA | insertion | Frame_Shift_Ins | novel | c.356_357insGCACAGAGAAGTTAAGTCACTTACTCAAGGTCACA | p.Phe119LeufsTer14 | p.F119Lfs*14 | Q6UWB1 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IL27RA | insertion | Frame_Shift_Ins | novel | c.1247_1248insG | p.Leu417ProfsTer63 | p.L417Pfs*63 | Q6UWB1 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IL27RA | insertion | Nonsense_Mutation | novel | c.1249_1250insACCGTACCTGGCAAGAAATCTTTATAAATAAATAAATAAATTAAT | p.Pro416_Leu417insHisArgThrTrpGlnGluIlePheIleAsnLysTerIleAsnTer | p.P416_L417insHRTWQEIFINK*IN* | Q6UWB1 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IL27RA | insertion | Frame_Shift_Ins | novel | c.394dupC | p.Arg132ProfsTer5 | p.R132Pfs*5 | Q6UWB1 | protein_coding | | | TCGA-AN-A0FD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IL27RA | SNV | Missense_Mutation | rs768013483 | c.625N>T | p.Arg209Trp | p.R209W | Q6UWB1 | protein_coding | deleterious(0.01) | possibly_damaging(0.649) | TCGA-DG-A2KL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
IL27RA | SNV | Missense_Mutation | novel | c.484N>G | p.Leu162Val | p.L162V | Q6UWB1 | protein_coding | deleterious(0.01) | benign(0.283) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
IL27RA | SNV | Missense_Mutation | | c.1279G>A | p.Asp427Asn | p.D427N | Q6UWB1 | protein_coding | tolerated(0.11) | benign(0.113) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IL27RA | insertion | Nonsense_Mutation | novel | c.1878_1879insTGA | p.Leu626_Leu627insTer | p.L626_L627ins* | Q6UWB1 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
IL27RA | SNV | Missense_Mutation | rs756798393 | c.1655N>A | p.Arg552His | p.R552H | Q6UWB1 | protein_coding | tolerated(0.41) | benign(0) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
IL27RA | SNV | Missense_Mutation | rs376141649 | c.1819N>A | p.Ala607Thr | p.A607T | Q6UWB1 | protein_coding | tolerated(0.44) | benign(0.001) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |