GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004325422 | Liver | HCC | regulation of protein-containing complex assembly | 264/7958 | 428/18723 | 5.47e-16 | 4.39e-14 | 264 |
GO:004854522 | Liver | HCC | response to steroid hormone | 206/7958 | 339/18723 | 6.81e-12 | 2.92e-10 | 206 |
GO:003133412 | Liver | HCC | positive regulation of protein-containing complex assembly | 150/7958 | 237/18723 | 7.35e-11 | 2.63e-09 | 150 |
GO:00066444 | Liver | HCC | phospholipid metabolic process | 214/7958 | 383/18723 | 7.25e-08 | 1.48e-06 | 214 |
GO:00550882 | Liver | HCC | lipid homeostasis | 103/7958 | 167/18723 | 4.27e-07 | 7.18e-06 | 103 |
GO:004648611 | Liver | HCC | glycerolipid metabolic process | 215/7958 | 392/18723 | 4.54e-07 | 7.49e-06 | 215 |
GO:000941022 | Liver | HCC | response to xenobiotic stimulus | 248/7958 | 462/18723 | 6.47e-07 | 1.02e-05 | 248 |
GO:00192162 | Liver | HCC | regulation of lipid metabolic process | 181/7958 | 331/18723 | 4.58e-06 | 5.79e-05 | 181 |
GO:005138421 | Liver | HCC | response to glucocorticoid | 90/7958 | 148/18723 | 5.18e-06 | 6.47e-05 | 90 |
GO:00066504 | Liver | HCC | glycerophospholipid metabolic process | 168/7958 | 306/18723 | 7.27e-06 | 8.62e-05 | 168 |
GO:003196021 | Liver | HCC | response to corticosteroid | 98/7958 | 167/18723 | 1.73e-05 | 1.87e-04 | 98 |
GO:001087621 | Liver | HCC | lipid localization | 228/7958 | 448/18723 | 1.80e-04 | 1.41e-03 | 228 |
GO:01200092 | Liver | HCC | intermembrane lipid transfer | 33/7958 | 48/18723 | 2.12e-04 | 1.63e-03 | 33 |
GO:00468902 | Liver | HCC | regulation of lipid biosynthetic process | 96/7958 | 171/18723 | 2.14e-04 | 1.63e-03 | 96 |
GO:000686921 | Liver | HCC | lipid transport | 198/7958 | 398/18723 | 1.92e-03 | 9.78e-03 | 198 |
GO:00303012 | Liver | HCC | cholesterol transport | 65/7958 | 117/18723 | 2.95e-03 | 1.38e-02 | 65 |
GO:00159182 | Liver | HCC | sterol transport | 71/7958 | 130/18723 | 3.49e-03 | 1.58e-02 | 71 |
GO:003032311 | Liver | HCC | respiratory tube development | 95/7958 | 181/18723 | 4.15e-03 | 1.81e-02 | 95 |
GO:003032411 | Liver | HCC | lung development | 91/7958 | 177/18723 | 1.01e-02 | 3.80e-02 | 91 |
GO:0048875 | Lung | IAC | chemical homeostasis within a tissue | 11/2061 | 14/18723 | 7.44e-09 | 1.05e-06 | 11 |
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 |
ABCA3 | SNV | Missense_Mutation | novel | c.1415N>T | p.Ala472Val | p.A472V | Q99758 | protein_coding | deleterious(0.03) | possibly_damaging(0.632) | TCGA-B5-A5OC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
ABCA3 | SNV | Missense_Mutation | novel | c.1016N>T | p.Ser339Phe | p.S339F | Q99758 | protein_coding | deleterious(0.04) | benign(0.009) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCA3 | SNV | Missense_Mutation | rs201341756 | c.955N>A | p.Ala319Thr | p.A319T | Q99758 | protein_coding | tolerated(0.84) | benign(0.007) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCA3 | SNV | Missense_Mutation | rs777536136 | c.3632C>T | p.Thr1211Met | p.T1211M | Q99758 | protein_coding | deleterious(0.04) | benign(0.418) | TCGA-BK-A0CB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ABCA3 | SNV | Missense_Mutation | novel | c.1381G>A | p.Val461Met | p.V461M | Q99758 | protein_coding | deleterious(0.02) | possibly_damaging(0.625) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCA3 | SNV | Missense_Mutation | rs367773869 | c.694C>T | p.Arg232Cys | p.R232C | Q99758 | protein_coding | deleterious(0.04) | possibly_damaging(0.773) | TCGA-BS-A0TA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
ABCA3 | SNV | Missense_Mutation | rs374123670 | c.2992C>T | p.Arg998Cys | p.R998C | Q99758 | protein_coding | tolerated(0.13) | possibly_damaging(0.892) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ABCA3 | SNV | Missense_Mutation | rs561560107 | c.2843N>T | p.Ser948Leu | p.S948L | Q99758 | protein_coding | tolerated(0.78) | benign(0.021) | TCGA-BS-A0V6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCA3 | SNV | Missense_Mutation | rs560604310 | c.4816N>A | p.Gly1606Ser | p.G1606S | Q99758 | protein_coding | deleterious(0.01) | probably_damaging(0.951) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ABCA3 | SNV | Missense_Mutation | novel | c.3652N>G | p.Ile1218Val | p.I1218V | Q99758 | protein_coding | tolerated(0.31) | benign(0.007) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |