GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022604 | Colorectum | AD | regulation of cell morphogenesis | 109/3918 | 309/18723 | 3.08e-09 | 2.07e-07 | 109 |
GO:0034329 | Colorectum | AD | cell junction assembly | 136/3918 | 420/18723 | 2.02e-08 | 1.15e-06 | 136 |
GO:0010975 | Colorectum | AD | regulation of neuron projection development | 129/3918 | 445/18723 | 2.88e-05 | 5.37e-04 | 129 |
GO:0031346 | Colorectum | AD | positive regulation of cell projection organization | 104/3918 | 353/18723 | 8.26e-05 | 1.30e-03 | 104 |
GO:0071709 | Colorectum | AD | membrane assembly | 22/3918 | 50/18723 | 2.00e-04 | 2.66e-03 | 22 |
GO:0010769 | Colorectum | AD | regulation of cell morphogenesis involved in differentiation | 35/3918 | 96/18723 | 3.26e-04 | 3.85e-03 | 35 |
GO:0010770 | Colorectum | AD | positive regulation of cell morphogenesis involved in differentiation | 30/3918 | 79/18723 | 3.81e-04 | 4.38e-03 | 30 |
GO:0010720 | Colorectum | AD | positive regulation of cell development | 87/3918 | 298/18723 | 4.17e-04 | 4.71e-03 | 87 |
GO:0044091 | Colorectum | AD | membrane biogenesis | 22/3918 | 55/18723 | 9.88e-04 | 9.28e-03 | 22 |
GO:1901888 | Colorectum | AD | regulation of cell junction assembly | 61/3918 | 204/18723 | 1.50e-03 | 1.27e-02 | 61 |
GO:0050767 | Colorectum | AD | regulation of neurogenesis | 99/3918 | 364/18723 | 2.35e-03 | 1.82e-02 | 99 |
GO:0099173 | Colorectum | AD | postsynapse organization | 51/3918 | 168/18723 | 2.47e-03 | 1.90e-02 | 51 |
GO:0006887 | Colorectum | AD | exocytosis | 96/3918 | 352/18723 | 2.48e-03 | 1.90e-02 | 96 |
GO:0017157 | Colorectum | AD | regulation of exocytosis | 59/3918 | 202/18723 | 3.20e-03 | 2.36e-02 | 59 |
GO:0016358 | Colorectum | AD | dendrite development | 69/3918 | 243/18723 | 3.32e-03 | 2.42e-02 | 69 |
GO:0050808 | Colorectum | AD | synapse organization | 112/3918 | 426/18723 | 4.25e-03 | 2.92e-02 | 112 |
GO:0050807 | Colorectum | AD | regulation of synapse organization | 60/3918 | 211/18723 | 5.67e-03 | 3.64e-02 | 60 |
GO:00226041 | Colorectum | SER | regulation of cell morphogenesis | 89/2897 | 309/18723 | 1.51e-09 | 1.52e-07 | 89 |
GO:00343291 | Colorectum | SER | cell junction assembly | 100/2897 | 420/18723 | 4.23e-06 | 1.61e-04 | 100 |
GO:00717091 | Colorectum | SER | membrane assembly | 20/2897 | 50/18723 | 2.45e-05 | 6.84e-04 | 20 |
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 |
IL1RAPL1 | SNV | Missense_Mutation | rs199864130 | c.149N>A | p.Arg50Gln | p.R50Q | Q9NZN1 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IL1RAPL1 | SNV | Missense_Mutation | | c.1490N>A | p.Arg497Gln | p.R497Q | Q9NZN1 | protein_coding | tolerated(0.7) | benign(0.186) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IL1RAPL1 | SNV | Missense_Mutation | | c.1859N>A | p.Arg620His | p.R620H | Q9NZN1 | protein_coding | deleterious_low_confidence(0) | benign(0.012) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IL1RAPL1 | SNV | Missense_Mutation | novel | c.534N>C | p.Glu178Asp | p.E178D | Q9NZN1 | protein_coding | tolerated(0.7) | benign(0.007) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
IL1RAPL1 | SNV | Missense_Mutation | | c.1320N>T | p.Lys440Asn | p.K440N | Q9NZN1 | protein_coding | tolerated(0.85) | possibly_damaging(0.539) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
IL1RAPL1 | insertion | Nonsense_Mutation | novel | c.1108_1109insATTTGGATTAAGAGAATTGTAAATA | p.Leu370HisfsTer4 | p.L370Hfs*4 | Q9NZN1 | protein_coding | | | TCGA-A5-A0R8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
IL1RAPL1 | insertion | Frame_Shift_Ins | novel | c.305_306insTGCTAACAAA | p.Ile103AlafsTer38 | p.I103Afs*38 | Q9NZN1 | protein_coding | | | TCGA-A5-A0R9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IL1RAPL1 | insertion | Frame_Shift_Ins | novel | c.1851_1852insATTAGAAT | p.Gln618IlefsTer29 | p.Q618Ifs*29 | Q9NZN1 | protein_coding | | | TCGA-BG-A0MQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IL1RAPL1 | insertion | Frame_Shift_Ins | novel | c.1851_1852insATTAGAAT | p.Gln618IlefsTer29 | p.Q618Ifs*29 | Q9NZN1 | protein_coding | | | TCGA-BG-A0W2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IL1RAPL1 | insertion | Frame_Shift_Ins | novel | c.1870_1871insTTAATTTCTCC | p.Tyr624PhefsTer24 | p.Y624Ffs*24 | Q9NZN1 | protein_coding | | | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |