GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003425025 | Skin | AK | positive regulation of cellular amide metabolic process | 43/1910 | 162/18723 | 2.77e-09 | 2.40e-07 | 43 |
GO:000170120 | Skin | AK | in utero embryonic development | 75/1910 | 367/18723 | 3.09e-09 | 2.62e-07 | 75 |
GO:000697928 | Skin | AK | response to oxidative stress | 86/1910 | 446/18723 | 4.23e-09 | 3.30e-07 | 86 |
GO:004572726 | Skin | AK | positive regulation of translation | 36/1910 | 136/18723 | 5.71e-08 | 2.89e-06 | 36 |
GO:007265925 | Skin | AK | protein localization to plasma membrane | 59/1910 | 284/18723 | 8.01e-08 | 3.80e-06 | 59 |
GO:199077820 | Skin | AK | protein localization to cell periphery | 66/1910 | 333/18723 | 9.18e-08 | 4.21e-06 | 66 |
GO:00302168 | Skin | AK | keratinocyte differentiation | 35/1910 | 139/18723 | 3.27e-07 | 1.27e-05 | 35 |
GO:000991316 | Skin | AK | epidermal cell differentiation | 45/1910 | 202/18723 | 3.50e-07 | 1.35e-05 | 45 |
GO:004860819 | Skin | AK | reproductive structure development | 77/1910 | 424/18723 | 3.56e-07 | 1.36e-05 | 77 |
GO:006145820 | Skin | AK | reproductive system development | 77/1910 | 427/18723 | 4.76e-07 | 1.74e-05 | 77 |
GO:009719127 | Skin | AK | extrinsic apoptotic signaling pathway | 47/1910 | 219/18723 | 6.14e-07 | 2.16e-05 | 47 |
GO:00423034 | Skin | AK | molting cycle | 29/1910 | 107/18723 | 6.35e-07 | 2.20e-05 | 29 |
GO:00426334 | Skin | AK | hair cycle | 29/1910 | 107/18723 | 6.35e-07 | 2.20e-05 | 29 |
GO:00987733 | Skin | AK | skin epidermis development | 25/1910 | 85/18723 | 7.05e-07 | 2.41e-05 | 25 |
GO:006100824 | Skin | AK | hepaticobiliary system development | 36/1910 | 150/18723 | 7.85e-07 | 2.62e-05 | 36 |
GO:00019423 | Skin | AK | hair follicle development | 24/1910 | 81/18723 | 1.01e-06 | 3.21e-05 | 24 |
GO:000188924 | Skin | AK | liver development | 35/1910 | 147/18723 | 1.35e-06 | 4.16e-05 | 35 |
GO:000756826 | Skin | AK | aging | 63/1910 | 339/18723 | 1.83e-06 | 5.42e-05 | 63 |
GO:00224044 | Skin | AK | molting cycle process | 24/1910 | 84/18723 | 2.08e-06 | 6.00e-05 | 24 |
GO:00224054 | Skin | AK | hair cycle process | 24/1910 | 84/18723 | 2.08e-06 | 6.00e-05 | 24 |
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 |