GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00343298 | Cervix | CC | cell junction assembly | 88/2311 | 420/18723 | 3.42e-07 | 1.38e-05 | 88 |
GO:19018886 | Cervix | CC | regulation of cell junction assembly | 42/2311 | 204/18723 | 5.50e-04 | 5.29e-03 | 42 |
GO:00519603 | Cervix | CC | regulation of nervous system development | 77/2311 | 443/18723 | 1.13e-03 | 9.30e-03 | 77 |
GO:00519622 | Cervix | CC | positive regulation of nervous system development | 48/2311 | 272/18723 | 6.60e-03 | 3.65e-02 | 48 |
GO:00343299 | Endometrium | AEH | cell junction assembly | 78/2100 | 420/18723 | 4.80e-06 | 1.24e-04 | 78 |
GO:19018887 | Endometrium | AEH | regulation of cell junction assembly | 39/2100 | 204/18723 | 5.94e-04 | 5.86e-03 | 39 |
GO:00508086 | Endometrium | AEH | synapse organization | 67/2100 | 426/18723 | 2.67e-03 | 1.94e-02 | 67 |
GO:003432914 | Endometrium | EEC | cell junction assembly | 79/2168 | 420/18723 | 8.37e-06 | 1.85e-04 | 79 |
GO:190188812 | Endometrium | EEC | regulation of cell junction assembly | 37/2168 | 204/18723 | 3.70e-03 | 2.48e-02 | 37 |
GO:005080812 | Endometrium | EEC | synapse organization | 68/2168 | 426/18723 | 3.73e-03 | 2.49e-02 | 68 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
GO:00519606 | Esophagus | ESCC | regulation of nervous system development | 237/8552 | 443/18723 | 5.02e-04 | 2.78e-03 | 237 |
GO:00519625 | Esophagus | ESCC | positive regulation of nervous system development | 149/8552 | 272/18723 | 1.50e-03 | 7.06e-03 | 149 |
GO:190188810 | Esophagus | ESCC | regulation of cell junction assembly | 109/8552 | 204/18723 | 1.53e-02 | 4.96e-02 | 109 |
GO:00343296 | Liver | NAFLD | cell junction assembly | 66/1882 | 420/18723 | 1.64e-04 | 3.00e-03 | 66 |
GO:19018884 | Liver | NAFLD | regulation of cell junction assembly | 36/1882 | 204/18723 | 5.82e-04 | 7.77e-03 | 36 |
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 |
ADGRL2 | SNV | Missense_Mutation | | c.299N>A | p.Arg100Gln | p.R100Q | O95490 | protein_coding | tolerated(0.12) | probably_damaging(0.98) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | | c.586N>T | p.Arg196Cys | p.R196C | O95490 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D1-A174-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | | c.3514N>A | p.Ala1172Thr | p.A1172T | O95490 | protein_coding | tolerated(0.06) | probably_damaging(0.997) | TCGA-D1-A174-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | | c.510T>G | p.Ile170Met | p.I170M | O95490 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | novel | c.2146N>C | p.Val716Leu | p.V716L | O95490 | protein_coding | deleterious(0.01) | probably_damaging(0.981) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | rs767737569 | c.3275N>A | p.Arg1092Gln | p.R1092Q | O95490 | protein_coding | tolerated(0.26) | probably_damaging(0.991) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | rs552007701 | c.1029N>G | p.Ile343Met | p.I343M | O95490 | protein_coding | tolerated(0.4) | benign(0.339) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | rs767811966 | c.1549N>A | p.Asp517Asn | p.D517N | O95490 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | rs758484253 | c.2849N>C | p.Lys950Thr | p.K950T | O95490 | protein_coding | tolerated(0.32) | probably_damaging(0.995) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADGRL2 | SNV | Missense_Mutation | novel | c.3225N>A | p.Phe1075Leu | p.F1075L | O95490 | protein_coding | tolerated(1) | probably_damaging(0.986) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |