GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000974328 | Skin | cSCC | response to carbohydrate | 88/4864 | 253/18723 | 1.11e-03 | 7.31e-03 | 88 |
GO:003461226 | Skin | cSCC | response to tumor necrosis factor | 88/4864 | 253/18723 | 1.11e-03 | 7.31e-03 | 88 |
GO:004510323 | Skin | cSCC | intermediate filament-based process | 24/4864 | 52/18723 | 1.32e-03 | 8.50e-03 | 24 |
GO:003030722 | Skin | cSCC | positive regulation of cell growth | 61/4864 | 166/18723 | 1.39e-03 | 8.78e-03 | 61 |
GO:003428427 | Skin | cSCC | response to monosaccharide | 79/4864 | 225/18723 | 1.43e-03 | 9.02e-03 | 79 |
GO:00724972 | Skin | cSCC | mesenchymal stem cell differentiation | 8/4864 | 11/18723 | 1.56e-03 | 9.60e-03 | 8 |
GO:004568215 | Skin | cSCC | regulation of epidermis development | 28/4864 | 65/18723 | 2.02e-03 | 1.20e-02 | 28 |
GO:003320915 | Skin | cSCC | tumor necrosis factor-mediated signaling pathway | 39/4864 | 99/18723 | 2.33e-03 | 1.36e-02 | 39 |
GO:007135625 | Skin | cSCC | cellular response to tumor necrosis factor | 79/4864 | 229/18723 | 2.48e-03 | 1.42e-02 | 79 |
GO:00512624 | Skin | cSCC | protein tetramerization | 35/4864 | 87/18723 | 2.52e-03 | 1.43e-02 | 35 |
GO:001063125 | Skin | cSCC | epithelial cell migration | 115/4864 | 357/18723 | 4.64e-03 | 2.37e-02 | 115 |
GO:0009746111 | Skin | cSCC | response to hexose | 74/4864 | 219/18723 | 5.94e-03 | 2.93e-02 | 74 |
GO:009013225 | Skin | cSCC | epithelium migration | 115/4864 | 360/18723 | 6.20e-03 | 3.04e-02 | 115 |
GO:004592719 | Skin | cSCC | positive regulation of growth | 85/4864 | 259/18723 | 8.03e-03 | 3.73e-02 | 85 |
GO:004886317 | Skin | cSCC | stem cell differentiation | 69/4864 | 206/18723 | 9.56e-03 | 4.30e-02 | 69 |
GO:009013025 | Skin | cSCC | tissue migration | 115/4864 | 365/18723 | 9.81e-03 | 4.33e-02 | 115 |
GO:000166727 | Skin | cSCC | ameboidal-type cell migration | 146/4864 | 475/18723 | 1.05e-02 | 4.58e-02 | 146 |
GO:00097436 | Stomach | GC | response to carbohydrate | 40/1159 | 253/18723 | 4.13e-08 | 2.85e-06 | 40 |
GO:00342846 | Stomach | GC | response to monosaccharide | 37/1159 | 225/18723 | 4.67e-08 | 3.17e-06 | 37 |
GO:00097466 | Stomach | GC | response to hexose | 36/1159 | 219/18723 | 7.14e-08 | 4.62e-06 | 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 |
KRT1 | SNV | Missense_Mutation | novel | c.62C>T | p.Ser21Phe | p.S21F | P04264 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
KRT1 | SNV | Missense_Mutation | novel | c.1807N>A | p.Gly603Ser | p.G603S | P04264 | protein_coding | tolerated_low_confidence(0.56) | benign(0.006) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
KRT1 | SNV | Missense_Mutation | rs771587972 | c.751N>T | p.Arg251Trp | p.R251W | P04264 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KRT1 | SNV | Missense_Mutation | | c.1027N>T | p.Arg343Cys | p.R343C | P04264 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-AO-A03O-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
KRT1 | SNV | Missense_Mutation | | c.1307C>T | p.Ala436Val | p.A436V | P04264 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B6-A0IC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KRT1 | deletion | Frame_Shift_Del | novel | c.402delN | p.Phe134LeufsTer43 | p.F134Lfs*43 | P04264 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
KRT1 | SNV | Missense_Mutation | | c.655N>A | p.Asp219Asn | p.D219N | P04264 | protein_coding | tolerated(0.38) | benign(0.066) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
KRT1 | SNV | Missense_Mutation | | c.811N>C | p.Glu271Gln | p.E271Q | P04264 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
KRT1 | SNV | Missense_Mutation | novel | c.1811C>T | p.Ser604Phe | p.S604F | P04264 | protein_coding | tolerated_low_confidence(0.09) | possibly_damaging(0.554) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KRT1 | SNV | Missense_Mutation | novel | c.971N>G | p.Ser324Cys | p.S324C | P04264 | protein_coding | deleterious(0.02) | probably_damaging(0.923) | TCGA-EK-A2IP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |