GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003166825 | Skin | cSCC | cellular response to extracellular stimulus | 94/4864 | 246/18723 | 1.52e-05 | 1.87e-04 | 94 |
GO:000926722 | Skin | cSCC | cellular response to starvation | 64/4864 | 156/18723 | 2.79e-05 | 3.12e-04 | 64 |
GO:0042594110 | Skin | cSCC | response to starvation | 77/4864 | 197/18723 | 3.52e-05 | 3.82e-04 | 77 |
GO:00065758 | Skin | cSCC | cellular modified amino acid metabolic process | 73/4864 | 188/18723 | 7.11e-05 | 6.85e-04 | 73 |
GO:003166728 | Skin | cSCC | response to nutrient levels | 160/4864 | 474/18723 | 8.44e-05 | 8.02e-04 | 160 |
GO:003166925 | Skin | cSCC | cellular response to nutrient levels | 80/4864 | 215/18723 | 1.76e-04 | 1.50e-03 | 80 |
GO:000155824 | Skin | cSCC | regulation of cell growth | 140/4864 | 414/18723 | 2.07e-04 | 1.72e-03 | 140 |
GO:003030722 | Skin | cSCC | positive regulation of cell growth | 61/4864 | 166/18723 | 1.39e-03 | 8.78e-03 | 61 |
GO:002154311 | Skin | cSCC | pallium development | 61/4864 | 169/18723 | 2.27e-03 | 1.33e-02 | 61 |
GO:00450569 | Skin | cSCC | transcytosis | 12/4864 | 21/18723 | 2.40e-03 | 1.38e-02 | 12 |
GO:001097522 | Skin | cSCC | regulation of neuron projection development | 141/4864 | 445/18723 | 3.72e-03 | 1.99e-02 | 141 |
GO:00066359 | Skin | cSCC | fatty acid beta-oxidation | 30/4864 | 74/18723 | 4.32e-03 | 2.27e-02 | 30 |
GO:004592719 | Skin | cSCC | positive regulation of growth | 85/4864 | 259/18723 | 8.03e-03 | 3.73e-02 | 85 |
GO:0022604112 | Thyroid | PTC | regulation of cell morphogenesis | 165/5968 | 309/18723 | 2.60e-15 | 1.82e-13 | 165 |
GO:0016049112 | Thyroid | PTC | cell growth | 225/5968 | 482/18723 | 4.75e-12 | 2.07e-10 | 225 |
GO:0071496113 | Thyroid | PTC | cellular response to external stimulus | 158/5968 | 320/18723 | 4.12e-11 | 1.47e-09 | 158 |
GO:0031330113 | Thyroid | PTC | negative regulation of cellular catabolic process | 131/5968 | 262/18723 | 6.63e-10 | 2.03e-08 | 131 |
GO:0009895113 | Thyroid | PTC | negative regulation of catabolic process | 154/5968 | 320/18723 | 7.77e-10 | 2.31e-08 | 154 |
GO:0001558111 | Thyroid | PTC | regulation of cell growth | 188/5968 | 414/18723 | 4.13e-09 | 1.09e-07 | 188 |
GO:0031668113 | Thyroid | PTC | cellular response to extracellular stimulus | 120/5968 | 246/18723 | 2.13e-08 | 4.91e-07 | 120 |
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 |
FSD2 | SNV | Missense_Mutation | rs200109394 | c.1411N>T | p.Pro471Ser | p.P471S | A1L4K1 | protein_coding | deleterious(0.04) | probably_damaging(1) | TCGA-A7-A26E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | SD |
FSD2 | SNV | Missense_Mutation | | c.413N>T | p.Gly138Val | p.G138V | A1L4K1 | protein_coding | deleterious(0.04) | benign(0.348) | TCGA-AN-A0AM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FSD2 | SNV | Missense_Mutation | rs774888742 | c.1499N>T | p.Ser500Leu | p.S500L | A1L4K1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A142-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamid | SD |
FSD2 | SNV | Missense_Mutation | | c.923C>A | p.Thr308Lys | p.T308K | A1L4K1 | protein_coding | deleterious(0.01) | benign(0.435) | TCGA-D8-A1X9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD |
FSD2 | SNV | Missense_Mutation | rs781225191 | c.388G>A | p.Glu130Lys | p.E130K | A1L4K1 | protein_coding | tolerated(0.07) | benign(0.096) | TCGA-DS-A0VK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
FSD2 | SNV | Missense_Mutation | novel | c.493N>T | p.Val165Phe | p.V165F | A1L4K1 | protein_coding | deleterious(0) | probably_damaging(0.957) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD |
FSD2 | SNV | Missense_Mutation | | c.520N>A | p.Glu174Lys | p.E174K | A1L4K1 | protein_coding | tolerated(0.07) | possibly_damaging(0.867) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
FSD2 | SNV | Missense_Mutation | | c.1398G>A | p.Met466Ile | p.M466I | A1L4K1 | protein_coding | tolerated(0.05) | benign(0.003) | TCGA-LP-A4AV-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
FSD2 | SNV | Missense_Mutation | | c.88G>A | p.Glu30Lys | p.E30K | A1L4K1 | protein_coding | tolerated(0.41) | benign(0.006) | TCGA-VS-A8QC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | paclitaxel | PD |
FSD2 | SNV | Missense_Mutation | novel | c.586N>A | p.Glu196Lys | p.E196K | A1L4K1 | protein_coding | deleterious(0.04) | benign(0.157) | TCGA-ZJ-AAXU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |