GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00430016 | Cervix | CC | Golgi to plasma membrane protein transport | 12/2311 | 40/18723 | 2.44e-03 | 1.71e-02 | 12 |
GO:00018957 | Cervix | CC | retina homeostasis | 19/2311 | 79/18723 | 2.94e-03 | 1.94e-02 | 19 |
GO:19013423 | Cervix | CC | regulation of vasculature development | 60/2311 | 348/18723 | 4.48e-03 | 2.72e-02 | 60 |
GO:00457653 | Cervix | CC | regulation of angiogenesis | 59/2311 | 342/18723 | 4.73e-03 | 2.83e-02 | 59 |
GO:00511464 | Cervix | CC | striated muscle cell differentiation | 50/2311 | 283/18723 | 5.53e-03 | 3.19e-02 | 50 |
GO:00181493 | Cervix | CC | peptide cross-linking | 10/2311 | 35/18723 | 7.99e-03 | 4.18e-02 | 10 |
GO:00069597 | Cervix | CC | humoral immune response | 54/2311 | 317/18723 | 8.57e-03 | 4.42e-02 | 54 |
GO:000697915 | Cervix | HSIL_HPV | response to oxidative stress | 48/737 | 446/18723 | 2.76e-10 | 7.02e-08 | 48 |
GO:000695912 | Cervix | HSIL_HPV | humoral immune response | 39/737 | 317/18723 | 2.88e-10 | 7.02e-08 | 39 |
GO:000854413 | Cervix | HSIL_HPV | epidermis development | 38/737 | 324/18723 | 1.92e-09 | 3.23e-07 | 38 |
GO:005072711 | Cervix | HSIL_HPV | regulation of inflammatory response | 41/737 | 386/18723 | 8.30e-09 | 1.03e-06 | 41 |
GO:000225312 | Cervix | HSIL_HPV | activation of immune response | 40/737 | 375/18723 | 1.12e-08 | 1.30e-06 | 40 |
GO:003021611 | Cervix | HSIL_HPV | keratinocyte differentiation | 22/737 | 139/18723 | 2.53e-08 | 2.18e-06 | 22 |
GO:004358813 | Cervix | HSIL_HPV | skin development | 31/737 | 263/18723 | 5.32e-08 | 3.89e-06 | 31 |
GO:000991313 | Cervix | HSIL_HPV | epidermal cell differentiation | 26/737 | 202/18723 | 1.10e-07 | 7.15e-06 | 26 |
GO:004206015 | Cervix | HSIL_HPV | wound healing | 40/737 | 422/18723 | 2.80e-07 | 1.61e-05 | 40 |
GO:005087814 | Cervix | HSIL_HPV | regulation of body fluid levels | 37/737 | 379/18723 | 3.81e-07 | 2.06e-05 | 37 |
GO:001003815 | Cervix | HSIL_HPV | response to metal ion | 36/737 | 373/18723 | 7.19e-07 | 3.65e-05 | 36 |
GO:001063113 | Cervix | HSIL_HPV | epithelial cell migration | 33/737 | 357/18723 | 5.28e-06 | 2.04e-04 | 33 |
GO:000166715 | Cervix | HSIL_HPV | ameboidal-type cell migration | 40/737 | 475/18723 | 5.48e-06 | 2.07e-04 | 40 |
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 |