GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005164810 | Esophagus | HGIN | vesicle localization | 37/2587 | 177/18723 | 6.03e-03 | 4.87e-02 | 37 |
GO:00086544 | Esophagus | ESCC | phospholipid biosynthetic process | 162/8552 | 253/18723 | 2.59e-09 | 5.73e-08 | 162 |
GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
GO:00464744 | Esophagus | ESCC | glycerophospholipid biosynthetic process | 135/8552 | 211/18723 | 5.75e-08 | 1.02e-06 | 135 |
GO:00450175 | Esophagus | ESCC | glycerolipid biosynthetic process | 154/8552 | 252/18723 | 5.20e-07 | 6.96e-06 | 154 |
GO:00066446 | Esophagus | ESCC | phospholipid metabolic process | 218/8552 | 383/18723 | 5.37e-06 | 5.59e-05 | 218 |
GO:00066505 | Esophagus | ESCC | glycerophospholipid metabolic process | 174/8552 | 306/18723 | 4.92e-05 | 3.85e-04 | 174 |
GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
GO:005164811 | Liver | Cirrhotic | vesicle localization | 62/4634 | 177/18723 | 1.37e-03 | 9.18e-03 | 62 |
GO:005164821 | Liver | HCC | vesicle localization | 107/7958 | 177/18723 | 1.05e-06 | 1.57e-05 | 107 |
GO:00516489 | Oral cavity | OSCC | vesicle localization | 105/7305 | 177/18723 | 3.30e-08 | 6.30e-07 | 105 |
GO:00086543 | Oral cavity | OSCC | phospholipid biosynthetic process | 130/7305 | 253/18723 | 3.96e-05 | 3.46e-04 | 130 |
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:005164814 | Oral cavity | LP | vesicle localization | 66/4623 | 177/18723 | 1.25e-04 | 1.46e-03 | 66 |
GO:005164816 | Skin | cSCC | vesicle localization | 73/4864 | 177/18723 | 6.36e-06 | 8.92e-05 | 73 |
GO:005164817 | Thyroid | PTC | vesicle localization | 94/5968 | 177/18723 | 3.54e-09 | 9.45e-08 | 94 |
GO:005164818 | Thyroid | ATC | vesicle localization | 91/6293 | 177/18723 | 7.21e-07 | 9.64e-06 | 91 |
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 |
PGS1 | SNV | Missense_Mutation | novel | c.667N>T | p.Val223Leu | p.V223L | Q32NB8 | protein_coding | tolerated(0.34) | benign(0.27) | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PGS1 | SNV | Missense_Mutation | rs752824213 | c.295N>A | p.Val99Met | p.V99M | Q32NB8 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PGS1 | SNV | Missense_Mutation | novel | c.394C>G | p.Pro132Ala | p.P132A | Q32NB8 | protein_coding | tolerated(0.35) | benign(0.258) | TCGA-E2-A573-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
PGS1 | SNV | Missense_Mutation | novel | c.595C>T | p.His199Tyr | p.H199Y | Q32NB8 | protein_coding | deleterious(0.02) | benign(0.284) | TCGA-GM-A2DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
PGS1 | SNV | Missense_Mutation | novel | c.700N>T | p.Gly234Cys | p.G234C | Q32NB8 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-OL-A5RY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PGS1 | insertion | Frame_Shift_Ins | novel | c.1615_1616insTCCAAAA | p.Arg539LeufsTer70 | p.R539Lfs*70 | Q32NB8 | protein_coding | | | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
PGS1 | insertion | In_Frame_Ins | novel | c.1616_1617insTGTTGGGATTATAGGCTTTAGCCACTGTGC | p.Arg539_Gln540insValGlyIleIleGlyPheSerHisCysAla | p.R539_Q540insVGIIGFSHCA | Q32NB8 | protein_coding | | | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
PGS1 | insertion | In_Frame_Ins | novel | c.1638_1639insTCTTTAGGAACACGGCTTCTT | p.Lys546_Met547insSerLeuGlyThrArgLeuLeu | p.K546_M547insSLGTRLL | Q32NB8 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PGS1 | deletion | Frame_Shift_Del | novel | c.1551+1delG | | | Q32NB8 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
PGS1 | insertion | Frame_Shift_Ins | novel | c.1378_1379insT | p.Arg460MetfsTer29 | p.R460Mfs*29 | Q32NB8 | protein_coding | | | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |