GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:006100814 | Cervix | N_HPV | hepaticobiliary system development | 13/534 | 150/18723 | 3.72e-04 | 5.41e-03 | 13 |
GO:00181492 | Cervix | N_HPV | peptide cross-linking | 6/534 | 35/18723 | 4.20e-04 | 5.88e-03 | 6 |
GO:000854423 | Cervix | N_HPV | epidermis development | 21/534 | 324/18723 | 4.32e-04 | 6.01e-03 | 21 |
GO:009719124 | Cervix | N_HPV | extrinsic apoptotic signaling pathway | 16/534 | 219/18723 | 5.71e-04 | 7.61e-03 | 16 |
GO:004358821 | Cervix | N_HPV | skin development | 18/534 | 263/18723 | 5.79e-04 | 7.67e-03 | 18 |
GO:000756824 | Cervix | N_HPV | aging | 21/534 | 339/18723 | 7.77e-04 | 9.73e-03 | 21 |
GO:004873215 | Cervix | N_HPV | gland development | 25/534 | 436/18723 | 7.93e-04 | 9.90e-03 | 25 |
GO:005087824 | Cervix | N_HPV | regulation of body fluid levels | 22/534 | 379/18723 | 1.37e-03 | 1.49e-02 | 22 |
GO:199077813 | Cervix | N_HPV | protein localization to cell periphery | 20/534 | 333/18723 | 1.49e-03 | 1.57e-02 | 20 |
GO:004886313 | Cervix | N_HPV | stem cell differentiation | 14/534 | 206/18723 | 2.43e-03 | 2.20e-02 | 14 |
GO:004860822 | Cervix | N_HPV | reproductive structure development | 23/534 | 424/18723 | 2.58e-03 | 2.31e-02 | 23 |
GO:006145823 | Cervix | N_HPV | reproductive system development | 23/534 | 427/18723 | 2.81e-03 | 2.45e-02 | 23 |
GO:004510421 | Cervix | N_HPV | intermediate filament cytoskeleton organization | 6/534 | 51/18723 | 3.17e-03 | 2.64e-02 | 6 |
GO:009015014 | Cervix | N_HPV | establishment of protein localization to membrane | 16/534 | 260/18723 | 3.37e-03 | 2.74e-02 | 16 |
GO:004510321 | Cervix | N_HPV | intermediate filament-based process | 6/534 | 52/18723 | 3.50e-03 | 2.83e-02 | 6 |
GO:000721911 | Cervix | N_HPV | Notch signaling pathway | 12/534 | 172/18723 | 3.92e-03 | 3.08e-02 | 12 |
GO:005081721 | Cervix | N_HPV | coagulation | 14/534 | 222/18723 | 4.76e-03 | 3.52e-02 | 14 |
GO:00451091 | Cervix | N_HPV | intermediate filament organization | 4/534 | 25/18723 | 5.14e-03 | 3.76e-02 | 4 |
GO:001004312 | Cervix | N_HPV | response to zinc ion | 6/534 | 58/18723 | 6.04e-03 | 4.17e-02 | 6 |
GO:00313481 | Cervix | N_HPV | negative regulation of defense response | 15/534 | 258/18723 | 7.41e-03 | 4.82e-02 | 15 |
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 |