GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:019873818 | Skin | AK | cell-cell signaling by wnt | 98/1910 | 446/18723 | 1.26e-13 | 3.72e-11 | 98 |
GO:004206028 | Skin | AK | wound healing | 91/1910 | 422/18723 | 2.93e-12 | 6.67e-10 | 91 |
GO:004873226 | Skin | AK | gland development | 93/1910 | 436/18723 | 3.24e-12 | 7.10e-10 | 93 |
GO:000691320 | Skin | AK | nucleocytoplasmic transport | 69/1910 | 301/18723 | 7.63e-11 | 1.29e-08 | 69 |
GO:005116920 | Skin | AK | nuclear transport | 69/1910 | 301/18723 | 7.63e-11 | 1.29e-08 | 69 |
GO:003011118 | Skin | AK | regulation of Wnt signaling pathway | 73/1910 | 328/18723 | 9.27e-11 | 1.52e-08 | 73 |
GO:190382927 | Skin | AK | positive regulation of cellular protein localization | 64/1910 | 276/18723 | 2.23e-10 | 3.00e-08 | 64 |
GO:006007017 | Skin | AK | canonical Wnt signaling pathway | 67/1910 | 303/18723 | 7.30e-10 | 7.45e-08 | 67 |
GO:006156416 | Skin | AK | axon development | 91/1910 | 467/18723 | 8.60e-10 | 8.63e-08 | 91 |
GO:000170120 | Skin | AK | in utero embryonic development | 75/1910 | 367/18723 | 3.09e-09 | 2.62e-07 | 75 |
GO:004578528 | Skin | AK | positive regulation of cell adhesion | 85/1910 | 437/18723 | 3.40e-09 | 2.79e-07 | 85 |
GO:006082818 | Skin | AK | regulation of canonical Wnt signaling pathway | 57/1910 | 253/18723 | 6.57e-09 | 4.47e-07 | 57 |
GO:007259426 | Skin | AK | establishment of protein localization to organelle | 81/1910 | 422/18723 | 1.48e-08 | 9.11e-07 | 81 |
GO:000740916 | Skin | AK | axonogenesis | 80/1910 | 418/18723 | 2.07e-08 | 1.19e-06 | 80 |
GO:000164919 | Skin | AK | osteoblast differentiation | 52/1910 | 229/18723 | 2.27e-08 | 1.28e-06 | 52 |
GO:000150318 | Skin | AK | ossification | 78/1910 | 408/18723 | 3.26e-08 | 1.76e-06 | 78 |
GO:003450419 | Skin | AK | protein localization to nucleus | 60/1910 | 290/18723 | 7.27e-08 | 3.53e-06 | 60 |
GO:002261217 | Skin | AK | gland morphogenesis | 32/1910 | 118/18723 | 1.68e-07 | 7.09e-06 | 32 |
GO:003238619 | Skin | AK | regulation of intracellular transport | 65/1910 | 337/18723 | 3.23e-07 | 1.27e-05 | 65 |
GO:004860819 | Skin | AK | reproductive structure development | 77/1910 | 424/18723 | 3.56e-07 | 1.36e-05 | 77 |
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 |
GLI3 | SNV | Missense_Mutation | | c.1620C>A | p.His540Gln | p.H540Q | P10071 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI3 | SNV | Missense_Mutation | novel | c.3213N>C | p.Glu1071Asp | p.E1071D | P10071 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GLI3 | SNV | Missense_Mutation | | c.2308N>C | p.Ala770Pro | p.A770P | P10071 | protein_coding | tolerated(0.08) | benign(0.007) | TCGA-B6-A0IM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI3 | SNV | Missense_Mutation | | c.3437T>G | p.Leu1146Arg | p.L1146R | P10071 | protein_coding | deleterious(0.04) | benign(0.014) | TCGA-BH-A203-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GLI3 | SNV | Missense_Mutation | novel | c.1763C>T | p.Ser588Leu | p.S588L | P10071 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
GLI3 | SNV | Missense_Mutation | | c.2422N>C | p.Ile808Leu | p.I808L | P10071 | protein_coding | tolerated(0.55) | benign(0.065) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI3 | SNV | Missense_Mutation | | c.1336N>T | p.Pro446Ser | p.P446S | P10071 | protein_coding | deleterious(0.04) | benign(0.336) | TCGA-E2-A14P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Targeted Molecular therapy | trastuzumab | SD |
GLI3 | SNV | Missense_Mutation | | c.1154N>T | p.Pro385Leu | p.P385L | P10071 | protein_coding | deleterious(0.02) | benign(0.099) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
GLI3 | insertion | Frame_Shift_Ins | novel | c.4513_4514insTATGTATTTTAGCAATCTCATCTCACCTAACTGAGATGTGTTTC | p.Asp1505ValfsTer21 | p.D1505Vfs*21 | P10071 | protein_coding | | | TCGA-A2-A0EM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
GLI3 | insertion | Nonsense_Mutation | novel | c.767_768insTGTTTTAACAGGTTTTACATTTTTGCCTTAAATGATTGTTTGC | p.Ser257ValfsTer10 | p.S257Vfs*10 | P10071 | protein_coding | | | TCGA-A7-A0D9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |