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.451G>A | p.Glu151Lys | p.E151K | Q8N2Q7 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A7-A13E-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | bevacizumab | PD |
NLGN1 | SNV | Missense_Mutation | | c.1333N>A | p.Asp445Asn | p.D445N | Q8N2Q7 | protein_coding | tolerated(0.1) | possibly_damaging(0.523) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NLGN1 | SNV | Missense_Mutation | | c.2251N>C | p.Glu751Gln | p.E751Q | Q8N2Q7 | protein_coding | tolerated_low_confidence(0.12) | possibly_damaging(0.521) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NLGN1 | SNV | Missense_Mutation | | c.2465N>C | p.Arg822Thr | p.R822T | Q8N2Q7 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.943) | TCGA-E9-A1RH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | SD |
NLGN1 | SNV | Missense_Mutation | | c.1756N>A | p.Leu586Ile | p.L586I | Q8N2Q7 | protein_coding | tolerated(0.06) | possibly_damaging(0.892) | TCGA-GM-A2DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
NLGN1 | insertion | In_Frame_Ins | novel | c.2151_2152insCTTTGG | p.Thr717_Thr718insLeuTrp | p.T717_T718insLW | Q8N2Q7 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NLGN1 | insertion | Nonsense_Mutation | novel | c.2153_2154insCTGTGATTGATGGTGATGTAA | p.Thr718_Thr719insCysAspTerTrpTerCysAsn | p.T718_T719insCD*W*CN | Q8N2Q7 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NLGN1 | insertion | Nonsense_Mutation | novel | c.2320_2321insTTTAA | p.Pro774LeufsTer2 | p.P774Lfs*2 | Q8N2Q7 | protein_coding | | | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
NLGN1 | insertion | Frame_Shift_Ins | novel | c.2321_2322insT | p.Met776AsnfsTer52 | p.M776Nfs*52 | Q8N2Q7 | protein_coding | | | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
NLGN1 | insertion | Nonsense_Mutation | novel | c.1444_1445insTCCTAACATTATATCATAGTTGAGAAACT | p.Pro482LeufsTer8 | p.P482Lfs*8 | Q8N2Q7 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |