GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000657521 | Liver | HCC | cellular modified amino acid metabolic process | 119/7958 | 188/18723 | 6.47e-09 | 1.67e-07 | 119 |
GO:00086542 | Liver | HCC | phospholipid biosynthetic process | 150/7958 | 253/18723 | 4.77e-08 | 1.03e-06 | 150 |
GO:00066444 | Liver | HCC | phospholipid metabolic process | 214/7958 | 383/18723 | 7.25e-08 | 1.48e-06 | 214 |
GO:004648611 | Liver | HCC | glycerolipid metabolic process | 215/7958 | 392/18723 | 4.54e-07 | 7.49e-06 | 215 |
GO:004501711 | Liver | HCC | glycerolipid biosynthetic process | 143/7958 | 252/18723 | 3.27e-06 | 4.31e-05 | 143 |
GO:00066504 | Liver | HCC | glycerophospholipid metabolic process | 168/7958 | 306/18723 | 7.27e-06 | 8.62e-05 | 168 |
GO:004647411 | Liver | HCC | glycerophospholipid biosynthetic process | 121/7958 | 211/18723 | 9.12e-06 | 1.06e-04 | 121 |
GO:004239821 | Liver | HCC | cellular modified amino acid biosynthetic process | 34/7958 | 46/18723 | 1.53e-05 | 1.67e-04 | 34 |
GO:00086543 | Oral cavity | OSCC | phospholipid biosynthetic process | 130/7305 | 253/18723 | 3.96e-05 | 3.46e-04 | 130 |
GO:00423985 | Oral cavity | OSCC | cellular modified amino acid biosynthetic process | 31/7305 | 46/18723 | 9.03e-05 | 6.88e-04 | 31 |
GO:00464743 | Oral cavity | OSCC | glycerophospholipid biosynthetic process | 102/7305 | 211/18723 | 3.50e-03 | 1.48e-02 | 102 |
GO:00066445 | Oral cavity | OSCC | phospholipid metabolic process | 175/7305 | 383/18723 | 4.21e-03 | 1.71e-02 | 175 |
GO:00065756 | Oral cavity | OSCC | cellular modified amino acid metabolic process | 91/7305 | 188/18723 | 5.33e-03 | 2.07e-02 | 91 |
GO:000657513 | Thyroid | PTC | cellular modified amino acid metabolic process | 85/5968 | 188/18723 | 8.29e-05 | 7.01e-04 | 85 |
GO:004239813 | Thyroid | PTC | cellular modified amino acid biosynthetic process | 25/5968 | 46/18723 | 1.31e-03 | 7.43e-03 | 25 |
GO:000657522 | Thyroid | ATC | cellular modified amino acid metabolic process | 82/6293 | 188/18723 | 2.60e-03 | 1.20e-02 | 82 |
GO:004239822 | Thyroid | ATC | cellular modified amino acid biosynthetic process | 25/6293 | 46/18723 | 3.00e-03 | 1.36e-02 | 25 |
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 |
PTDSS2 | SNV | Missense_Mutation | novel | c.1230C>G | p.Phe410Leu | p.F410L | Q9BVG9 | protein_coding | tolerated(0.45) | benign(0.003) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
PTDSS2 | SNV | Missense_Mutation | | c.937N>T | p.Arg313Cys | p.R313C | Q9BVG9 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A2-A0YD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PTDSS2 | SNV | Missense_Mutation | | c.286N>T | p.Gly96Cys | p.G96C | Q9BVG9 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
PTDSS2 | SNV | Missense_Mutation | rs777043477 | c.1069G>A | p.Val357Met | p.V357M | Q9BVG9 | protein_coding | tolerated(0.11) | benign(0.223) | TCGA-AQ-A0Y5-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | SD |
PTDSS2 | SNV | Missense_Mutation | novel | c.874N>A | p.Ala292Thr | p.A292T | Q9BVG9 | protein_coding | tolerated(0.18) | benign(0.356) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PTDSS2 | SNV | Missense_Mutation | rs140991730 | c.1408N>A | p.Glu470Lys | p.E470K | Q9BVG9 | protein_coding | deleterious_low_confidence(0.04) | benign(0) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PTDSS2 | SNV | Missense_Mutation | | c.774N>G | p.Ile258Met | p.I258M | Q9BVG9 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
PTDSS2 | SNV | Missense_Mutation | | c.1090N>C | p.Glu364Gln | p.E364Q | Q9BVG9 | protein_coding | deleterious(0) | probably_damaging(0.942) | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PTDSS2 | SNV | Missense_Mutation | novel | c.1453N>G | p.Thr485Ala | p.T485A | Q9BVG9 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-AA-3851-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PTDSS2 | SNV | Missense_Mutation | rs766899176 | c.185G>A | p.Arg62Gln | p.R62Q | Q9BVG9 | protein_coding | tolerated(0.1) | benign(0.03) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |