GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00066505 | Esophagus | ESCC | glycerophospholipid metabolic process | 174/8552 | 306/18723 | 4.92e-05 | 3.85e-04 | 174 |
GO:00065757 | Esophagus | ESCC | cellular modified amino acid metabolic process | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:003030710 | Esophagus | ESCC | positive regulation of cell growth | 100/8552 | 166/18723 | 1.07e-04 | 7.55e-04 | 100 |
GO:00066358 | Esophagus | ESCC | fatty acid beta-oxidation | 50/8552 | 74/18723 | 1.16e-04 | 8.04e-04 | 50 |
GO:001097516 | Esophagus | ESCC | regulation of neuron projection development | 240/8552 | 445/18723 | 2.48e-04 | 1.53e-03 | 240 |
GO:00620129 | Esophagus | ESCC | regulation of small molecule metabolic process | 184/8552 | 334/18723 | 3.11e-04 | 1.85e-03 | 184 |
GO:00352647 | Esophagus | ESCC | multicellular organism growth | 80/8552 | 132/18723 | 3.84e-04 | 2.22e-03 | 80 |
GO:00723297 | Esophagus | ESCC | monocarboxylic acid catabolic process | 74/8552 | 122/18723 | 6.03e-04 | 3.27e-03 | 74 |
GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
GO:00421805 | Esophagus | ESCC | cellular ketone metabolic process | 120/8552 | 211/18723 | 6.70e-04 | 3.55e-03 | 120 |
GO:00442427 | Esophagus | ESCC | cellular lipid catabolic process | 121/8552 | 214/18723 | 8.63e-04 | 4.43e-03 | 121 |
GO:00450568 | Esophagus | ESCC | transcytosis | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
GO:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
GO:00302586 | Esophagus | ESCC | lipid modification | 116/8552 | 212/18723 | 4.90e-03 | 1.89e-02 | 116 |
GO:01501724 | Esophagus | ESCC | regulation of phosphatidylcholine metabolic process | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
GO:003563310 | Esophagus | ESCC | maintenance of blood-brain barrier | 24/8552 | 35/18723 | 5.25e-03 | 1.97e-02 | 24 |
GO:00215436 | Esophagus | ESCC | pallium development | 94/8552 | 169/18723 | 5.79e-03 | 2.14e-02 | 94 |
GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
GO:001635816 | Esophagus | ESCC | dendrite development | 130/8552 | 243/18723 | 8.33e-03 | 2.95e-02 | 130 |
GO:004592717 | Esophagus | ESCC | positive regulation of growth | 137/8552 | 259/18723 | 1.13e-02 | 3.80e-02 | 137 |
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 |