GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000276412 | Endometrium | EEC | immune response-regulating signaling pathway | 80/2168 | 468/18723 | 2.20e-04 | 2.64e-03 | 80 |
GO:0006959 | Stomach | GC | humoral immune response | 42/1159 | 317/18723 | 2.59e-06 | 1.10e-04 | 42 |
GO:0051251 | Stomach | GC | positive regulation of lymphocyte activation | 43/1159 | 362/18723 | 3.12e-05 | 8.51e-04 | 43 |
GO:0002696 | Stomach | GC | positive regulation of leukocyte activation | 46/1159 | 409/18723 | 6.50e-05 | 1.46e-03 | 46 |
GO:0050867 | Stomach | GC | positive regulation of cell activation | 46/1159 | 420/18723 | 1.22e-04 | 2.33e-03 | 46 |
GO:0016064 | Stomach | GC | immunoglobulin mediated immune response | 26/1159 | 207/18723 | 4.66e-04 | 6.83e-03 | 26 |
GO:0019724 | Stomach | GC | B cell mediated immunity | 26/1159 | 210/18723 | 5.82e-04 | 7.99e-03 | 26 |
GO:0042742 | Stomach | GC | defense response to bacterium | 37/1159 | 350/18723 | 1.05e-03 | 1.23e-02 | 37 |
GO:0002764 | Stomach | GC | immune response-regulating signaling pathway | 46/1159 | 468/18723 | 1.31e-03 | 1.46e-02 | 46 |
GO:0010324 | Stomach | GC | membrane invagination | 19/1159 | 144/18723 | 1.44e-03 | 1.57e-02 | 19 |
GO:0050851 | Stomach | GC | antigen receptor-mediated signaling pathway | 27/1159 | 240/18723 | 1.96e-03 | 2.00e-02 | 27 |
GO:0099024 | Stomach | GC | plasma membrane invagination | 17/1159 | 136/18723 | 4.41e-03 | 3.60e-02 | 17 |
GO:0002460 | Stomach | GC | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 35/1159 | 356/18723 | 4.64e-03 | 3.76e-02 | 35 |
GO:0006911 | Stomach | GC | phagocytosis, engulfment | 16/1159 | 127/18723 | 5.22e-03 | 4.11e-02 | 16 |
GO:0002253 | Stomach | GC | activation of immune response | 36/1159 | 375/18723 | 6.03e-03 | 4.55e-02 | 36 |
GO:0002449 | Stomach | GC | lymphocyte mediated immunity | 34/1159 | 350/18723 | 6.25e-03 | 4.69e-02 | 34 |
GO:0006956 | Stomach | GC | complement activation | 16/1159 | 130/18723 | 6.54e-03 | 4.83e-02 | 16 |
GO:0006958 | Stomach | GC | complement activation, classical pathway | 14/1159 | 108/18723 | 6.75e-03 | 4.90e-02 | 14 |
GO:00069592 | Stomach | CSG | humoral immune response | 40/1034 | 317/18723 | 9.26e-07 | 4.76e-05 | 40 |
GO:00512512 | Stomach | CSG | positive regulation of lymphocyte activation | 38/1034 | 362/18723 | 1.13e-04 | 2.42e-03 | 38 |
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 |
IGLL5 | SNV | Missense_Mutation | rs547486842 | c.362C>T | p.Pro121Leu | p.P121L | B9A064 | protein_coding | tolerated_low_confidence(1) | possibly_damaging(0.803) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IGLL5 | SNV | Missense_Mutation | rs565314713 | c.119N>A | p.Arg40His | p.R40H | B9A064 | protein_coding | tolerated_low_confidence(0.4) | benign(0) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
IGLL5 | SNV | Missense_Mutation | novel | c.639N>G | p.Cys213Trp | p.C213W | B9A064 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IGLL5 | SNV | Missense_Mutation | novel | c.640N>G | p.Ser214Ala | p.S214A | B9A064 | protein_coding | tolerated_low_confidence(0.42) | benign(0.092) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IGLL5 | SNV | Missense_Mutation | novel | c.634N>A | p.Glu212Lys | p.E212K | B9A064 | protein_coding | tolerated_low_confidence(0.12) | benign(0.078) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
IGLL5 | SNV | Missense_Mutation | novel | c.389N>T | p.Asn130Ile | p.N130I | B9A064 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.958) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IGLL5 | SNV | Missense_Mutation | novel | c.521N>G | p.Tyr174Cys | p.Y174C | B9A064 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
IGLL5 | deletion | Frame_Shift_Del | novel | c.257delN | p.Trp89GlyfsTer20 | p.W89Gfs*20 | B9A064 | protein_coding | | | TCGA-D1-A176-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IGLL5 | deletion | Frame_Shift_Del | rs777611193 | c.229delC | p.Gln77ArgfsTer32 | p.Q77Rfs*32 | B9A064 | protein_coding | | | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IGLL5 | SNV | Missense_Mutation | rs367960872 | c.531N>A | p.Ser177Arg | p.S177R | B9A064 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.944) | TCGA-DD-A115-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Chemotherapy | unknown | SD |