GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00485119 | Endometrium | AEH | rhythmic process | 67/2100 | 298/18723 | 1.69e-08 | 1.04e-06 | 67 |
GO:000660516 | Endometrium | AEH | protein targeting | 68/2100 | 314/18723 | 6.30e-08 | 3.38e-06 | 68 |
GO:00516568 | Endometrium | AEH | establishment of organelle localization | 77/2100 | 390/18723 | 4.89e-07 | 1.94e-05 | 77 |
GO:00076239 | Endometrium | AEH | circadian rhythm | 47/2100 | 210/18723 | 2.54e-06 | 7.28e-05 | 47 |
GO:00343299 | Endometrium | AEH | cell junction assembly | 78/2100 | 420/18723 | 4.80e-06 | 1.24e-04 | 78 |
GO:00301009 | Endometrium | AEH | regulation of endocytosis | 44/2100 | 211/18723 | 3.39e-05 | 6.05e-04 | 44 |
GO:00109758 | Endometrium | AEH | regulation of neuron projection development | 75/2100 | 445/18723 | 2.01e-04 | 2.54e-03 | 75 |
GO:001003816 | Endometrium | AEH | response to metal ion | 65/2100 | 373/18723 | 2.02e-04 | 2.54e-03 | 65 |
GO:00458078 | Endometrium | AEH | positive regulation of endocytosis | 24/2100 | 100/18723 | 2.27e-04 | 2.75e-03 | 24 |
GO:00163588 | Endometrium | AEH | dendrite development | 46/2100 | 243/18723 | 2.56e-04 | 3.03e-03 | 46 |
GO:19000275 | Endometrium | AEH | regulation of ruffle assembly | 11/2100 | 31/18723 | 3.44e-04 | 3.80e-03 | 11 |
GO:00313468 | Endometrium | AEH | positive regulation of cell projection organization | 61/2100 | 353/18723 | 3.91e-04 | 4.20e-03 | 61 |
GO:19018887 | Endometrium | AEH | regulation of cell junction assembly | 39/2100 | 204/18723 | 5.94e-04 | 5.86e-03 | 39 |
GO:00971786 | Endometrium | AEH | ruffle assembly | 13/2100 | 44/18723 | 7.79e-04 | 7.36e-03 | 13 |
GO:00516507 | Endometrium | AEH | establishment of vesicle localization | 32/2100 | 161/18723 | 8.99e-04 | 8.24e-03 | 32 |
GO:00069035 | Endometrium | AEH | vesicle targeting | 13/2100 | 45/18723 | 9.84e-04 | 8.90e-03 | 13 |
GO:00315296 | Endometrium | AEH | ruffle organization | 15/2100 | 56/18723 | 9.88e-04 | 8.90e-03 | 15 |
GO:00427527 | Endometrium | AEH | regulation of circadian rhythm | 25/2100 | 121/18723 | 1.79e-03 | 1.43e-02 | 25 |
GO:00308658 | Endometrium | AEH | cortical cytoskeleton organization | 15/2100 | 61/18723 | 2.50e-03 | 1.87e-02 | 15 |
GO:00508086 | Endometrium | AEH | synapse organization | 67/2100 | 426/18723 | 2.67e-03 | 1.94e-02 | 67 |
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 |
NLGN1 | SNV | Missense_Mutation | | c.344N>A | p.Pro115His | p.P115H | Q8N2Q7 | protein_coding | deleterious(0.03) | possibly_damaging(0.49) | TCGA-66-2773-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NLGN1 | SNV | Missense_Mutation | novel | c.1445N>G | p.Pro482Arg | p.P482R | Q8N2Q7 | protein_coding | deleterious(0.03) | possibly_damaging(0.857) | TCGA-77-7141-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NLGN1 | SNV | Missense_Mutation | | c.104N>T | p.Gly35Val | p.G35V | Q8N2Q7 | protein_coding | tolerated_low_confidence(0.52) | benign(0.012) | TCGA-79-5596-01 | Lung | lung squamous cell carcinoma | Male | Unknown | III/IV | Unknown | Unknown | SD |
NLGN1 | SNV | Missense_Mutation | novel | c.1546N>A | p.Pro516Thr | p.P516T | Q8N2Q7 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-85-7844-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NLGN1 | SNV | Missense_Mutation | novel | c.458N>T | p.Cys153Phe | p.C153F | Q8N2Q7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-85-A53L-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NLGN1 | SNV | Missense_Mutation | novel | c.1403N>A | p.Pro468Gln | p.P468Q | Q8N2Q7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-85-A53L-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NLGN1 | SNV | Missense_Mutation | novel | c.2122N>T | p.Val708Phe | p.V708F | Q8N2Q7 | protein_coding | tolerated(0.42) | benign(0.257) | TCGA-85-A53L-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NLGN1 | SNV | Missense_Mutation | | c.1253N>C | p.Phe418Ser | p.F418S | Q8N2Q7 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-92-8063-01 | Lung | lung squamous cell carcinoma | Male | <65 | III/IV | Chemotherapy | taxol | SD |
NLGN1 | SNV | Missense_Mutation | novel | c.1855N>G | p.Ile619Val | p.I619V | Q8N2Q7 | protein_coding | tolerated(0.69) | benign(0.001) | TCGA-94-8035-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unspecific | | Complete Response |
NLGN1 | SNV | Missense_Mutation | novel | c.2042N>T | p.Ala681Val | p.A681V | Q8N2Q7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-XC-AA0X-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |