GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003428418 | Prostate | BPH | response to monosaccharide | 61/3107 | 225/18723 | 4.34e-05 | 4.60e-04 | 61 |
GO:00435886 | Prostate | BPH | skin development | 69/3107 | 263/18723 | 4.49e-05 | 4.73e-04 | 69 |
GO:00607063 | Prostate | BPH | cell differentiation involved in embryonic placenta development | 13/3107 | 25/18723 | 5.04e-05 | 5.21e-04 | 13 |
GO:19040196 | Prostate | BPH | epithelial cell apoptotic process | 37/3107 | 121/18723 | 9.71e-05 | 9.04e-04 | 37 |
GO:00085448 | Prostate | BPH | epidermis development | 80/3107 | 324/18723 | 1.12e-04 | 1.02e-03 | 80 |
GO:000974617 | Prostate | BPH | response to hexose | 58/3107 | 219/18723 | 1.33e-04 | 1.19e-03 | 58 |
GO:007135616 | Prostate | BPH | cellular response to tumor necrosis factor | 60/3107 | 229/18723 | 1.42e-04 | 1.26e-03 | 60 |
GO:00488636 | Prostate | BPH | stem cell differentiation | 55/3107 | 206/18723 | 1.56e-04 | 1.36e-03 | 55 |
GO:00459279 | Prostate | BPH | positive regulation of growth | 66/3107 | 259/18723 | 1.64e-04 | 1.43e-03 | 66 |
GO:000931414 | Prostate | BPH | response to radiation | 105/3107 | 456/18723 | 2.07e-04 | 1.70e-03 | 105 |
GO:00102127 | Prostate | BPH | response to ionizing radiation | 42/3107 | 148/18723 | 2.20e-04 | 1.78e-03 | 42 |
GO:005087817 | Prostate | BPH | regulation of body fluid levels | 89/3107 | 379/18723 | 3.08e-04 | 2.37e-03 | 89 |
GO:00099138 | Prostate | BPH | epidermal cell differentiation | 52/3107 | 202/18723 | 5.95e-04 | 4.11e-03 | 52 |
GO:00426926 | Prostate | BPH | muscle cell differentiation | 88/3107 | 384/18723 | 7.59e-04 | 5.01e-03 | 88 |
GO:00302165 | Prostate | BPH | keratinocyte differentiation | 38/3107 | 139/18723 | 9.35e-04 | 5.92e-03 | 38 |
GO:00068937 | Prostate | BPH | Golgi to plasma membrane transport | 19/3107 | 60/18723 | 2.94e-03 | 1.54e-02 | 19 |
GO:00619517 | Prostate | BPH | establishment of protein localization to plasma membrane | 19/3107 | 60/18723 | 2.94e-03 | 1.54e-02 | 19 |
GO:00456824 | Prostate | BPH | regulation of epidermis development | 20/3107 | 65/18723 | 3.36e-03 | 1.73e-02 | 20 |
GO:00430017 | Prostate | BPH | Golgi to plasma membrane protein transport | 14/3107 | 40/18723 | 3.68e-03 | 1.85e-02 | 14 |
GO:00614363 | Prostate | BPH | establishment of skin barrier | 10/3107 | 25/18723 | 4.57e-03 | 2.19e-02 | 10 |
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 |