GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003297027 | Esophagus | HGIN | regulation of actin filament-based process | 77/2587 | 397/18723 | 1.14e-03 | 1.39e-02 | 77 |
GO:001605516 | Esophagus | HGIN | Wnt signaling pathway | 83/2587 | 444/18723 | 2.27e-03 | 2.33e-02 | 83 |
GO:003295627 | Esophagus | HGIN | regulation of actin cytoskeleton organization | 69/2587 | 358/18723 | 2.35e-03 | 2.39e-02 | 69 |
GO:019873816 | Esophagus | HGIN | cell-cell signaling by wnt | 83/2587 | 446/18723 | 2.58e-03 | 2.55e-02 | 83 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:0032970111 | Esophagus | ESCC | regulation of actin filament-based process | 231/8552 | 397/18723 | 2.91e-07 | 4.20e-06 | 231 |
GO:0032956111 | Esophagus | ESCC | regulation of actin cytoskeleton organization | 210/8552 | 358/18723 | 4.40e-07 | 6.00e-06 | 210 |
GO:004206027 | Esophagus | ESCC | wound healing | 243/8552 | 422/18723 | 4.62e-07 | 6.25e-06 | 243 |
GO:00017387 | Esophagus | ESCC | morphogenesis of a polarized epithelium | 63/8552 | 94/18723 | 2.34e-05 | 2.00e-04 | 63 |
GO:00600714 | Esophagus | ESCC | Wnt signaling pathway, planar cell polarity pathway | 36/8552 | 52/18723 | 5.05e-04 | 2.79e-03 | 36 |
GO:00901753 | Esophagus | ESCC | regulation of establishment of planar polarity | 37/8552 | 56/18723 | 1.65e-03 | 7.65e-03 | 37 |
GO:00017361 | Esophagus | ESCC | establishment of planar polarity | 45/8552 | 72/18723 | 2.97e-03 | 1.24e-02 | 45 |
GO:00071641 | Esophagus | ESCC | establishment of tissue polarity | 45/8552 | 72/18723 | 2.97e-03 | 1.24e-02 | 45 |
GO:00355671 | Esophagus | ESCC | non-canonical Wnt signaling pathway | 45/8552 | 72/18723 | 2.97e-03 | 1.24e-02 | 45 |
GO:004308715 | Esophagus | ESCC | regulation of GTPase activity | 183/8552 | 348/18723 | 5.34e-03 | 2.00e-02 | 183 |
GO:20000274 | Esophagus | ESCC | regulation of animal organ morphogenesis | 71/8552 | 125/18723 | 7.97e-03 | 2.84e-02 | 71 |
GO:005105610 | Esophagus | ESCC | regulation of small GTPase mediated signal transduction | 157/8552 | 302/18723 | 1.55e-02 | 4.98e-02 | 157 |
GO:004206020 | Oral cavity | OSCC | wound healing | 237/7305 | 422/18723 | 4.51e-13 | 2.18e-11 | 237 |
GO:003297020 | Oral cavity | OSCC | regulation of actin filament-based process | 209/7305 | 397/18723 | 1.89e-08 | 3.72e-07 | 209 |
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 |
ARHGEF19 | SNV | Missense_Mutation | | c.2317N>C | p.Glu773Gln | p.E773Q | Q8IW93 | protein_coding | deleterious(0.02) | possibly_damaging(0.885) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARHGEF19 | SNV | Missense_Mutation | | c.2228N>T | p.Ser743Leu | p.S743L | Q8IW93 | protein_coding | tolerated(0.75) | benign(0) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
ARHGEF19 | insertion | Frame_Shift_Ins | novel | c.14_15insGGGAGGG | p.Pro6GlyfsTer144 | p.P6Gfs*144 | Q8IW93 | protein_coding | | | TCGA-AN-A0FY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ARHGEF19 | insertion | Frame_Shift_Ins | novel | c.1787_1788insGAATCAAGGGCTAGACTGTATGCCGAGGACT | p.His596GlnfsTer42 | p.H596Qfs*42 | Q8IW93 | protein_coding | | | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ARHGEF19 | SNV | Missense_Mutation | novel | c.1164G>T | p.Glu388Asp | p.E388D | Q8IW93 | protein_coding | deleterious(0) | probably_damaging(0.943) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ARHGEF19 | SNV | Missense_Mutation | | c.620N>G | p.Ser207Cys | p.S207C | Q8IW93 | protein_coding | tolerated_low_confidence(0.12) | benign(0.319) | TCGA-C5-A1BL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ARHGEF19 | SNV | Missense_Mutation | novel | c.2356N>A | p.Glu786Lys | p.E786K | Q8IW93 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
ARHGEF19 | SNV | Missense_Mutation | novel | c.2345G>A | p.Arg782Gln | p.R782Q | Q8IW93 | protein_coding | tolerated(0.21) | possibly_damaging(0.611) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
ARHGEF19 | SNV | Missense_Mutation | rs781061684 | c.1772N>A | p.Arg591His | p.R591H | Q8IW93 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ARHGEF19 | SNV | Missense_Mutation | | c.1357N>A | p.Asp453Asn | p.D453N | Q8IW93 | protein_coding | deleterious(0.02) | probably_damaging(0.969) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |